WormBase Tree Display for Variation: WBVar00143395
expand all nodes | collapse all nodes | view schema
WBVar00143395 | Evidence | Paper_evidence | WBPaper00000779 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | e675 | |||||||
Other_name | CE09349:p.Ala1474_Glu1563del | ||||||||
F11C3.3.1:c.4419_4688del | |||||||||
HGVSg | CHROMOSOME_I:g.14857540_14857809del | ||||||||
Sequence_details | SMap | S_parent | Sequence | F32A7 | |||||
Flanking_sequences | cgaatggagaaagaagaccgacgacttggc | agagagcaaggttctccgcgcccaggttga | |||||||
Mapping_target | F32A7 | ||||||||
Type_of_mutation | Deletion | ||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00004195 | ||||||||
WBStrain00006193 | |||||||||
WBStrain00006245 | |||||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00006789 | |||||||
Transcript | F11C3.3.1 | VEP_consequence | inframe_deletion | ||||||
VEP_impact | MODERATE | ||||||||
HGVSc | F11C3.3.1:c.4419_4688del | ||||||||
HGVSp | CE09349:p.Ala1474_Glu1563del | ||||||||
cDNA_position | 4451-4720 | ||||||||
CDS_position | 4419-4688 | ||||||||
Protein_position | 1473-1563 | ||||||||
Exon_number | 7/11 | ||||||||
Codon_change | gcCGCTGAGCTTGATGGAGCTCAACGCGACCTTCGCAACACCTCCACTGATCTCTTCAAGGCCAAGAACGCCCAAGAGGAGCTCGCCGAGGTTGTTGAGGGACTCCGCCGTGAGAACAAGAGCTTGAGCCAAGAGATCAAGGATCTTACCGATCAACTCGGAGAGGGAGGACGCTCTGTCCACGAAATGCAAAAGATCATCCGCCGTCTTGAGATTGAGAAGGAAGAACTCCAACACGCTTTGGACGAGGCTGAGGCTGCCCTTGAAGCTGAa/gca | ||||||||
Amino_acid_change | AAELDGAQRDLRNTSTDLFKAKNAQEELAEVVEGLRRENKSLSQEIKDLTDQLGEGGRSVHEMQKIIRRLEIEKEELQHALDEAEAALEAE/A | ||||||||
Isolation | Mutagen | EMS | Paper_evidence | WBPaper00000779 | |||||
Genetics | Interpolated_map_position | I | 27.9602 | ||||||
Mapping_data | In_2_point | 6106 | |||||||
Description | Phenotype | WBPhenotype:0000422 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | slight twitchers | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Semi_dominant | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000509 | Paper_evidence | WBPaper00000536 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Only 0.4% of sperm have pseudopods, all of which have normal morphology. | Paper_evidence | WBPaper00000536 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006798 | PATO:0000460 | Paper_evidence | WBPaper00000536 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000644 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | almost paralysed | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Semi_dominant | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference (13) | |||||||||
Method | Deletion_allele |