WormBase Tree Display for Variation: WBVar00088347
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WBVar00088347 | Evidence | Paper_evidence | WBPaper00003386 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ku241 | |||||||
Other_name (11) | |||||||||
HGVSg | CHROMOSOME_X:g.5672227G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | W01C8 | |||||
Flanking_sequences | caacaataaagtcatgtggcctatggttca | atgctccatgccggcaatttcgactcggag | |||||||
Mapping_target | W01C8 | ||||||||
Type_of_mutation | Substitution | g | a | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | MH | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001182 | |||||||
Transcript | T22B7.1e.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1e.1:c.376-1G>A | ||||||||
Intron_number | 4/8 | ||||||||
T22B7.1d.1 | VEP_consequence | synonymous_variant | |||||||
VEP_impact | LOW | ||||||||
HGVSc | T22B7.1d.1:c.18G>A | ||||||||
HGVSp | CE05030:p.Gln6= | ||||||||
cDNA_position | 799 | ||||||||
CDS_position | 18 | ||||||||
Protein_position | 6 | ||||||||
Exon_number | 5/10 | ||||||||
Codon_change | caG/caA | ||||||||
Amino_acid_change | Q | ||||||||
T22B7.1d.2 | VEP_consequence | synonymous_variant | |||||||
VEP_impact | LOW | ||||||||
HGVSc | T22B7.1d.2:c.18G>A | ||||||||
HGVSp | CE05030:p.Gln6= | ||||||||
cDNA_position | 739 | ||||||||
CDS_position | 18 | ||||||||
Protein_position | 6 | ||||||||
Exon_number | 4/9 | ||||||||
Codon_change | caG/caA | ||||||||
Amino_acid_change | Q | ||||||||
T22B7.1a.3 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1a.3:c.472-1G>A | ||||||||
Intron_number | 7/12 | ||||||||
T22B7.1b.2 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1b.2:c.10-1G>A | ||||||||
Intron_number | 5/10 | ||||||||
T22B7.1b.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1b.1:c.10-1G>A | ||||||||
Intron_number | 5/10 | ||||||||
T22B7.1a.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1a.1:c.472-1G>A | ||||||||
Intron_number | 7/12 | ||||||||
T22B7.1b.3 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1b.3:c.10-1G>A | ||||||||
Intron_number | 4/9 | ||||||||
T22B7.1a.2 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1a.2:c.472-1G>A | ||||||||
Intron_number | 6/11 | ||||||||
T22B7.1c.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1c.1:c.328-1G>A | ||||||||
Intron_number | 4/8 | ||||||||
Genetics | Interpolated_map_position | X | -4.40704 | ||||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00003386 | |||||
WBPaper00006298 | |||||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 100% (n=94) of animals are unable to lay eggs. | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Complete | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
WBPaper00006298 | |||||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000154 | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Average brood size 6111 s.d. (n=58). Brood size was assayed by counting all progeny that emerged from an Egl corpse. | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000283 | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 95% (n=61) of animals with normal vulval morphology exhibited an AC block, e.g. the AC nucleus had not migrated from the apex of the vulva. N2 exhibits 0% AC block (n-32). | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | High | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000038 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000690 | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 6% (n=162) gonad arms followed and abnormal migration path as viewed under Nomarski optics, compared to N2 (3%(n=108)). | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006865 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Life_stage | WBls:0000038 | PATO:0000460 | Paper_evidence | WBPaper00003386 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000695 | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 5% (n=61) of animals exhibit grossly abnormal vulva morphology as compared to N2 (3%(n=32)). | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Life_stage | WBls:0000035 | PATO:0000460 | Paper_evidence | WBPaper00003386 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBls:0000038 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000697 | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 26% (n=76) of animals have a protruding vulva. | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00003386 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000746 | Paper_evidence | WBPaper00006298 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 17/24 pi cell daughters were observed dividing (2 animals scored). No pi cell daughters were observed to undergo divisions in N2 animals. | Paper_evidence | WBPaper00006298 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0007813 | PATO:0000460 | Paper_evidence | WBPaper00006298 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Life_stage | WBls:0000038 | PATO:0000460 | Paper_evidence | WBPaper00006298 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000825 | Paper_evidence | WBPaper00006298 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | As assayed by extra cell divisions of pi daughter cells. | Paper_evidence | WBPaper00006298 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0007813 | PATO:0000460 | Paper_evidence | WBPaper00006298 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Life_stage | WBls:0000038 | PATO:0000460 | Paper_evidence | WBPaper00006298 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_not_observed | WBPhenotype:0000688 | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 0% (n=76) of animals produce no progeny. | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001414 | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00003386 | ||||||||
WBPaper00006298 | |||||||||
Remark | Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00001182 Acceptor | ||||||||
Method | Substitution_allele |