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 | WBStrain00000020 | ||||||||
WBStrain00000028 | |||||||||
WBStrain00000188 | |||||||||
WBStrain00000303 | |||||||||
WBStrain00000313 | |||||||||
WBStrain00000314 | |||||||||
WBStrain00000315 | |||||||||
WBStrain00000316 | |||||||||
WBStrain00000317 | |||||||||
WBStrain00004017 | |||||||||
WBStrain00004018 | |||||||||
WBStrain00004019 | |||||||||
WBStrain00004849 | |||||||||
WBStrain00005226 | |||||||||
WBStrain00005227 | |||||||||
WBStrain00005248 | |||||||||
WBStrain00005249 | |||||||||
WBStrain00005251 | |||||||||
WBStrain00005252 | |||||||||
WBStrain00005255 | |||||||||
WBStrain00005273 | |||||||||
WBStrain00005284 | |||||||||
WBStrain00005355 | |||||||||
WBStrain00005361 | |||||||||
WBStrain00005365 | |||||||||
WBStrain00005550 | |||||||||
WBStrain00005551 | |||||||||
WBStrain00005552 | |||||||||
WBStrain00005553 | |||||||||
WBStrain00005554 | |||||||||
WBStrain00005555 | |||||||||
WBStrain00005556 | |||||||||
WBStrain00005557 | |||||||||
WBStrain00005558 | |||||||||
WBStrain00005559 | |||||||||
WBStrain00005560 | |||||||||
WBStrain00005561 | |||||||||
WBStrain00005562 | |||||||||
WBStrain00005563 | |||||||||
WBStrain00005564 | |||||||||
WBStrain00005565 | |||||||||
WBStrain00005575 | |||||||||
WBStrain00005577 | |||||||||
WBStrain00005578 | |||||||||
WBStrain00005579 | |||||||||
WBStrain00005580 | |||||||||
WBStrain00005581 | |||||||||
WBStrain00005582 | |||||||||
WBStrain00005583 | |||||||||
WBStrain00005600 | |||||||||
WBStrain00005837 | |||||||||
WBStrain00006667 | |||||||||
WBStrain00006671 | |||||||||
WBStrain00006674 | |||||||||
WBStrain00006699 | |||||||||
WBStrain00006700 | |||||||||
WBStrain00007187 | |||||||||
WBStrain00007671 | |||||||||
WBStrain00008269 | |||||||||
WBStrain00008270 | |||||||||
WBStrain00008271 | |||||||||
WBStrain00008278 | |||||||||
WBStrain00008279 | |||||||||
WBStrain00008280 | |||||||||
WBStrain00008281 | |||||||||
WBStrain00008282 | |||||||||
WBStrain00008283 | |||||||||
WBStrain00008284 | |||||||||
WBStrain00008285 | |||||||||
WBStrain00008286 | |||||||||
WBStrain00008287 | |||||||||
WBStrain00008288 | |||||||||
WBStrain00008289 | |||||||||
WBStrain00008290 | |||||||||
WBStrain00008291 | |||||||||
WBStrain00022682 | |||||||||
WBStrain00022843 | |||||||||
WBStrain00023457 | |||||||||
WBStrain00023623 | |||||||||
WBStrain00024134 | |||||||||
WBStrain00024140 | |||||||||
WBStrain00024153 | |||||||||
WBStrain00026380 | |||||||||
WBStrain00026382 | |||||||||
WBStrain00026387 | |||||||||
WBStrain00026388 | |||||||||
WBStrain00026389 | |||||||||
WBStrain00026391 | |||||||||
WBStrain00026392 | |||||||||
WBStrain00026397 | |||||||||
WBStrain00026398 | |||||||||
WBStrain00026416 | |||||||||
WBStrain00026417 | |||||||||
WBStrain00026418 | |||||||||
WBStrain00026419 | |||||||||
WBStrain00026420 | |||||||||
WBStrain00026421 | |||||||||
WBStrain00026540 | |||||||||
WBStrain00026541 | |||||||||
WBStrain00026971 | |||||||||
WBStrain00027005 | |||||||||
WBStrain00027012 | |||||||||
WBStrain00027064 | |||||||||
WBStrain00027102 | |||||||||
WBStrain00027314 | |||||||||
WBStrain00027315 | |||||||||
WBStrain00027328 | |||||||||
WBStrain00027367 | |||||||||
WBStrain00027368 | |||||||||
WBStrain00027440 | |||||||||
WBStrain00027601 | |||||||||
WBStrain00027602 | |||||||||
WBStrain00027617 | |||||||||
WBStrain00028647 | |||||||||
WBStrain00029045 | |||||||||
WBStrain00029065 | |||||||||
WBStrain00029251 | |||||||||
WBStrain00029290 | |||||||||
WBStrain00029467 | |||||||||
WBStrain00030930 | |||||||||
WBStrain00031121 | |||||||||
WBStrain00033483 | |||||||||
WBStrain00034639 | |||||||||
WBStrain00034640 | |||||||||
WBStrain00034655 | |||||||||
WBStrain00035027 | |||||||||
WBStrain00035028 | |||||||||
WBStrain00035029 | |||||||||
WBStrain00035090 | |||||||||
WBStrain00035099 | |||||||||
WBStrain00040158 | |||||||||
WBStrain00040159 | |||||||||
WBStrain00040160 | |||||||||
WBStrain00040161 | |||||||||
WBStrain00040162 | |||||||||
WBStrain00040163 | |||||||||
WBStrain00040164 | |||||||||
WBStrain00040165 | |||||||||
WBStrain00040169 | |||||||||
WBStrain00040633 | |||||||||
WBStrain00040883 | |||||||||
WBStrain00040884 | |||||||||
WBStrain00040885 | |||||||||
WBStrain00040886 | |||||||||
WBStrain00040887 | |||||||||
WBStrain00040888 | |||||||||
WBStrain00040889 | |||||||||
WBStrain00040890 | |||||||||
WBStrain00040891 | |||||||||
WBStrain00040892 | |||||||||
WBStrain00040893 | |||||||||
WBStrain00040894 | |||||||||
WBStrain00040895 | |||||||||
WBStrain00040896 | |||||||||
WBStrain00040897 | |||||||||
WBStrain00040898 | |||||||||
WBStrain00040899 | |||||||||
WBStrain00040900 | |||||||||
WBStrain00040901 | |||||||||
WBStrain00040902 | |||||||||
WBStrain00040903 | |||||||||
WBStrain00040904 | |||||||||
WBStrain00040905 | |||||||||
WBStrain00040906 | |||||||||
WBStrain00040909 | |||||||||
WBStrain00040910 | |||||||||
WBStrain00040911 | |||||||||
WBStrain00040912 | |||||||||
WBStrain00044114 | |||||||||
WBStrain00051804 | |||||||||
WBStrain00051805 | |||||||||
WBStrain00051806 | |||||||||
WBStrain00052189 | |||||||||
WBStrain00053854 | |||||||||
WBStrain00053860 | |||||||||
WBStrain00054860 | |||||||||
WBStrain00054882 | |||||||||
WBStrain00054883 | |||||||||
WBStrain00055701 | |||||||||
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 (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 (2) | ||||||||
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 |