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 (2) | |||||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain (179) | |||||||||
| Laboratory | MT | ||||||||
| NM | |||||||||
| CX | |||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00003004 | |||||||
| WBGene00023498 | |||||||||
| WBGene00023497 | |||||||||
| 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 | WBInteraction000051554 | ||||||||
| WBInteraction000051555 | |||||||||
| WBInteraction000051556 | |||||||||
| WBInteraction000051557 | |||||||||
| WBInteraction000051558 | |||||||||
| WBInteraction000051559 | |||||||||
| WBInteraction000051560 | |||||||||
| WBInteraction000051561 | |||||||||
| WBInteraction000051562 | |||||||||
| WBInteraction000051563 | |||||||||
| WBInteraction000051564 | |||||||||
| WBInteraction000051565 | |||||||||
| WBInteraction000051566 | |||||||||
| WBInteraction000051567 | |||||||||
| WBInteraction000051568 | |||||||||
| WBInteraction000051569 | |||||||||
| WBInteraction000051570 | |||||||||
| WBInteraction000051571 | |||||||||
| WBInteraction000051572 | |||||||||
| WBInteraction000051573 | |||||||||
| WBInteraction000051574 | |||||||||
| WBInteraction000051575 | |||||||||
| WBInteraction000051576 | |||||||||
| WBInteraction000051577 | |||||||||
| WBInteraction000051578 | |||||||||
| WBInteraction000051579 | |||||||||
| WBInteraction000051580 | |||||||||
| WBInteraction000051581 | |||||||||
| WBInteraction000051582 | |||||||||
| WBInteraction000051583 | |||||||||
| WBInteraction000051584 | |||||||||
| WBInteraction000051585 | |||||||||
| WBInteraction000051586 | |||||||||
| WBInteraction000051587 | |||||||||
| WBInteraction000051588 | |||||||||
| WBInteraction000051589 | |||||||||
| WBInteraction000051685 | |||||||||
| WBInteraction000051686 | |||||||||
| WBInteraction000051687 | |||||||||
| WBInteraction000051688 | |||||||||
| WBInteraction000051689 | |||||||||
| WBInteraction000051690 | |||||||||
| WBInteraction000051691 | |||||||||
| WBInteraction000051692 | |||||||||
| WBInteraction000051693 | |||||||||
| WBInteraction000051694 | |||||||||
| WBInteraction000051695 | |||||||||
| WBInteraction000051696 | |||||||||
| WBInteraction000052124 | |||||||||
| WBInteraction000500334 | |||||||||
| WBInteraction000500662 | |||||||||
| WBInteraction000500663 | |||||||||
| WBInteraction000502392 | |||||||||
| WBInteraction000519982 | |||||||||
| WBInteraction000519983 | |||||||||
| WBInteraction000519984 | |||||||||
| WBInteraction000519985 | |||||||||
| WBInteraction000523931 | |||||||||
| WBInteraction000524055 | |||||||||
| WBInteraction000524056 | |||||||||
| WBInteraction000524057 | |||||||||
| WBInteraction000524397 | |||||||||
| WBInteraction000524410 | |||||||||
| WBInteraction000524413 | |||||||||
| 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 (26) | |||||||||
| 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 |
