WormBase Tree Display for Variation: WBVar00240979
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WBVar00240979 | Evidence | Paper_evidence | WBPaper00030933 | |||||
---|---|---|---|---|---|---|---|---|
Person_evidence | WBPerson1414 | |||||||
Name | Public_name | pr3 | ||||||
Other_name | T25E12.4c.1:c.601-173_923-264del | |||||||
T25E12.4e.1:c.1195-173_1511-264del | ||||||||
T25E12.4f.1:c.1195-173_1517-264del | ||||||||
T25E12.4d.1:c.529-173_851-264del | ||||||||
T25E12.4a.1:c.1195-173_1517-264del | ||||||||
HGVSg | CHROMOSOME_V:g.16765957_16767502del | |||||||
Sequence_details | SMap | S_parent | Sequence | F14D1 | ||||
Flanking_sequences | ttgagtgtacgtagatctacaaaatttgtg | gcaacaaaaaaaaataaattcgtttaaaaaat | ||||||
Mapping_target | F14D1 | |||||||
Type_of_mutation | Deletion | |||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | CR | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00198164 | ||||||
WBGene00012019 | ||||||||
Transcript | T25E12.4f.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | T25E12.4f.1:c.1195-173_1517-264del | |||||||
Intron_number | 7-10/18 | |||||||
Exon_number | 8-10/19 | |||||||
F14D1.3 | VEP_consequence | transcript_ablation | ||||||
VEP_impact | HIGH | |||||||
Exon_number | 1/1 | |||||||
T25E12.4d.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T25E12.4d.1:c.529-173_851-264del | |||||||
Intron_number | 3-6/13 | |||||||
Exon_number | 4-6/14 | |||||||
T25E12.4c.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T25E12.4c.1:c.601-173_923-264del | |||||||
Intron_number | 3-6/13 | |||||||
Exon_number | 4-6/14 | |||||||
T25E12.4a.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T25E12.4a.1:c.1195-173_1517-264del | |||||||
Intron_number | 7-10/18 | |||||||
Exon_number | 8-10/19 | |||||||
T25E12.4e.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T25E12.4e.1:c.1195-173_1511-264del | |||||||
Intron_number | 7-10/17 | |||||||
Exon_number | 8-10/18 | |||||||
Interactor | WBInteraction000503002 | |||||||
WBInteraction000534885 | ||||||||
Genetics | Interpolated_map_position | V | 11.1644 | |||||
Description | Phenotype_not_observed | WBPhenotype:0001800 | Paper_evidence | WBPaper00033094 | ||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | Normal increase in pnlp-29::GFP expression after infection. | Paper_evidence | WBPaper00033094 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Phenotype_assay | Genotype | frIs7 [pnlp-29::GFP] | Paper_evidence | WBPaper00033094 | ||||
Curator_confirmed | WBPerson2021 | |||||||
WBPhenotype:0001838 | Paper_evidence | WBPaper00033094 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | The PMA-induced upregulation of pnlp-29::GFP expression was normal in mutant worms | Paper_evidence | WBPaper00033094 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Phenotype_assay | Genotype | frIs7 [pnlp-29::GFP] | Paper_evidence | WBPaper00033094 | ||||
Curator_confirmed | WBPerson2021 | |||||||
Reference | WBPaper00033094 | |||||||
Remark | pr3 has a 1.5 kb deletion which covers exons 8-10, introns 8+9 and part of introns 7 and 10. The deletion results in a frame shift and premature stop codon. | Person_evidence | WBPerson1414 | |||||
Method | Deletion_allele |