WormBase Tree Display for Variation: WBVar00089736
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WBVar00089736 | Evidence | Paper_evidence | WBPaper00032289 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | n765 | |||||||
Other_name | CE15381:p.Pro208LysfsTer16 | ||||||||
ZK662.4.2:c.622_812del | |||||||||
ZK662.4.1:c.622_812del | |||||||||
HGVSg | CHROMOSOME_X:g.15727663_15727853del | ||||||||
Sequence_details | SMap | S_parent | Sequence | ZK678 | |||||
Flanking_sequences | TCAAATGTCAAGTTTACGAACATTGTGTGT | AAGGTAAATTTAGCGTTTTTAACCTTTATA | |||||||
Mapping_target | ZK678 | ||||||||
Type_of_mutation | Insertion | ||||||||
Deletion | |||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain (199) | |||||||||
Laboratory | MT | ||||||||
NM | |||||||||
CX | |||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00003004 | |||||||
WBGene00023497 | |||||||||
WBGene00023498 | |||||||||
Transcript | ZK662.4.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | ZK662.4.1:c.622_812del | ||||||||
HGVSp | CE15381:p.Pro208LysfsTer16 | ||||||||
cDNA_position | 628-818 | ||||||||
CDS_position | 622-812 | ||||||||
Protein_position | 208-271 | ||||||||
Exon_number | 4/10 | ||||||||
Codon_change | CCAAACGAAGAGATTTGCAAGCTGGTTGAAGAGAGTGCAGTTGTCAAACGATACAACGTTTGCTTCTACAACTACGTTACCCGTTTTGTGGCCGATTTGATGGAAATTGAAGAGTTTTCCAGTGGGCTGACACAATTGCGAACATTTGTTCGTTATATGAAACAAAATTCGGATATGTATAGCAAATTTAGa/a | ||||||||
Amino_acid_change | PNEEICKLVEESAVVKRYNVCFYNYVTRFVADLMEIEEFSSGLTQLRTFVRYMKQNSDMYSKFR/X | ||||||||
ZK662.4.2 | VEP_consequence | frameshift_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | ZK662.4.2:c.622_812del | ||||||||
HGVSp | CE15381:p.Pro208LysfsTer16 | ||||||||
cDNA_position | 634-824 | ||||||||
CDS_position | 622-812 | ||||||||
Protein_position | 208-271 | ||||||||
Exon_number | 4/11 | ||||||||
Codon_change | CCAAACGAAGAGATTTGCAAGCTGGTTGAAGAGAGTGCAGTTGTCAAACGATACAACGTTTGCTTCTACAACTACGTTACCCGTTTTGTGGCCGATTTGATGGAAATTGAAGAGTTTTCCAGTGGGCTGACACAATTGCGAACATTTGTTCGTTATATGAAACAAAATTCGGATATGTATAGCAAATTTAGa/a | ||||||||
Amino_acid_change | PNEEICKLVEESAVVKRYNVCFYNYVTRFVADLMEIEEFSSGLTQLRTFVRYMKQNSDMYSKFR/X | ||||||||
Interactor (64) | |||||||||
Genetics | Interpolated_map_position | X | 22.945 | ||||||
Mapping_data | In_2_point | 4457 | |||||||
4458 | |||||||||
7082 | |||||||||
In_multi_point (19) | |||||||||
In_pos_neg_data | 4461 | ||||||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00026863 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 13% of fertile animals (n=32) exhibited an egg laying defect. | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Temperature | 20 | Paper_evidence | WBPaper00026863 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000099 | Paper_evidence | WBPaper00005344 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Remark | The lin-15(n765) mutation resulted in 20% of animals with the '0 P11.p' phenotype (P11 adopts a P12 fate). No animals exhibited the '2 P11.p' phenotype (P12 adopts a P11 fate). | Paper_evidence | WBPaper00005344 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00005344 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0004410 | PATO:0000460 | Paper_evidence | WBPaper00005344 | ||||
Curator_confirmed | WBPerson2987 | ||||||||
WBbt:0004409 | PATO:0000460 | Paper_evidence | WBPaper00005344 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0000137 | Paper_evidence | WBPaper00032289 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | lin-15A transcripts were reduced >10-fold as assayed by qRT-PCR (data not shown). | Paper_evidence | WBPaper00032289 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000218 | Paper_evidence | WBPaper00026863 | |||||||
WBPaper00005344 | |||||||||
WBPaper00006388 | |||||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPerson2987 | |||||||||
Remark | On average 5.82 VCPs (n=24 animals) are induced to adopt a vulval cell fate, which is increased compared to wild type (3/6 VPCs induced, n=29). VPCs and fate adoption were scored by Nomarski optics. | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
The lin-15(n765) mutation resulted in more than the expected number of induced vulval precursor cells (4.86 on average instead of 3.0 in wild type) | Paper_evidence | WBPaper00005344 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
lin-15(n765) mutant animals exhibited an average of 5.37 induced vulval precursor cells (Table I), as opposed to 3.0 in wild type | Paper_evidence | WBPaper00006388 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0007809 | PATO:0000460 | Paper_evidence | WBPaper00005344 | ||||
WBPaper00006388 | |||||||||
Curator_confirmed | WBPerson2987 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Treatment | Animals were grown at 18.2 degrees Celsius | Paper_evidence | WBPaper00006388 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
Temperature | 20 | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
18.2 | Paper_evidence | WBPaper00006388 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0000688 | Paper_evidence | WBPaper00026863 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 3% animals produced progeny (n=41). | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Low | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Temperature | 20 | Paper_evidence | WBPaper00026863 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000700 | Paper_evidence | WBPaper00000762 | |||||||
WBPaper00026863 | |||||||||
WBPaper00032309 | |||||||||
WBPaper00005344 | |||||||||
WBPaper00005255 | |||||||||
WBPaper00006388 | |||||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
WBPerson2987 | |||||||||
Remark | 2 or 3 large ventral protrusions. n765 has a temperature-dependent maternal effect ( at 20 C) | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
100% animals display one or more ectopic pseudovulvae (n=343). | Paper_evidence | WBPaper00026863 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
100% of animals were Muv. | Paper_evidence | WBPaper00032309 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
wildtype at 15C, Muv at 25C, maternal effect Muv at 20C | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
95% of lin-15(n765) animals have multiple vulva | Paper_evidence | WBPaper00005344 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Table 1 | Paper_evidence | WBPaper00005255 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Table I | Paper_evidence | WBPaper00006388 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Penetrance | Incomplete | 55% penetrant | Paper_evidence | WBPaper00005255 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
High | Paper_evidence | WBPaper00005344 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
91% penetrant | Paper_evidence | WBPaper00006388 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Complete | Paper_evidence | WBPaper00032309 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00000762 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00005344 | ||||
WBPaper00006388 | |||||||||
Curator_confirmed | WBPerson2987 | ||||||||
Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000762 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00000762 | ||||||
WBPaper00026863 | |||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
25 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Maternal | With_maternal_effect | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Treatment | Animals raised at 17.5 degrees Celsius | Paper_evidence | WBPaper00005255 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
Animals were grown at 18.2 degrees Celsius | Paper_evidence | WBPaper00006388 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Temperature | 20, 25 | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
20 | Paper_evidence | WBPaper00026863 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
17.5 | Paper_evidence | WBPaper00005255 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
18.2 | Paper_evidence | WBPaper00006388 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Genotype | him-5(e1467) | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001258 | Paper_evidence | WBPaper00027135 | |||||||
Curator_confirmed | WBPerson557 | ||||||||
WBPhenotype:0001414 | Paper_evidence | WBPaper00000762 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Hemizygous n765 males do not mate at the restricted temperature | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Complete | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00000762 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00000762 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Temperature | 25 | Paper_evidence | WBPaper00000762 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Genotype | him-5(e1467) | Paper_evidence | WBPaper00000762 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_not_observed | WBPhenotype:0000698 | Paper_evidence | WBPaper00026863 | ||||||
WBPaper00005344 | |||||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPerson2987 | |||||||||
Remark | 0% animals (n=24) are aberrant in induction of VPCs as scored by Nomarski optics. | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00026863 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Temperature | 20 | Paper_evidence | WBPaper00026863 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Reference (30) | |||||||||
Remark | Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00023498 WBGene00003004 Genomic_neighbourhood | ||||||||
Method | Deletion_and_insertion_allele |