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WormBase Tree Display for Variation: WBVar00088347

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Name Class

WBVar00088347EvidencePaper_evidenceWBPaper00003386
NamePublic_nameku241
Other_name (11)
HGVSgCHROMOSOME_X:g.5672227G>A
Sequence_detailsSMapS_parentSequenceW01C8
Flanking_sequencescaacaataaagtcatgtggcctatggttcaatgctccatgccggcaatttcgactcggag
Mapping_targetW01C8
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryMH
StatusLive
AffectsGeneWBGene00001182
TranscriptT22B7.1e.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT22B7.1e.1:c.376-1G>A
Intron_number4/8
T22B7.1d.1VEP_consequencesynonymous_variant
VEP_impactLOW
HGVScT22B7.1d.1:c.18G>A
HGVSpCE05030:p.Gln6=
cDNA_position799
CDS_position18
Protein_position6
Exon_number5/10
Codon_changecaG/caA
Amino_acid_changeQ
T22B7.1d.2VEP_consequencesynonymous_variant
VEP_impactLOW
HGVScT22B7.1d.2:c.18G>A
HGVSpCE05030:p.Gln6=
cDNA_position739
CDS_position18
Protein_position6
Exon_number4/9
Codon_changecaG/caA
Amino_acid_changeQ
T22B7.1a.3VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT22B7.1a.3:c.472-1G>A
Intron_number7/12
T22B7.1b.2VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT22B7.1b.2:c.10-1G>A
Intron_number5/10
T22B7.1b.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT22B7.1b.1:c.10-1G>A
Intron_number5/10
T22B7.1a.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT22B7.1a.1:c.472-1G>A
Intron_number7/12
T22B7.1b.3VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT22B7.1b.3:c.10-1G>A
Intron_number4/9
T22B7.1a.2VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT22B7.1a.2:c.472-1G>A
Intron_number6/11
T22B7.1c.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT22B7.1c.1:c.328-1G>A
Intron_number4/8
GeneticsInterpolated_map_positionX-4.40704
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00003386
WBPaper00006298
Curator_confirmedWBPerson712
Remark100% (n=94) of animals are unable to lay eggs.Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00003386
WBPaper00006298
Curator_confirmedWBPerson712
WBPhenotype:0000154Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
RemarkAverage brood size 6111 s.d. (n=58). Brood size was assayed by counting all progeny that emerged from an Egl corpse.Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
WBPhenotype:0000283Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
Remark95% (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_evidenceWBPaper00003386
Curator_confirmedWBPerson712
PenetranceHighPaper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000038PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
WBPhenotype:0000690Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
Remark6% (n=162) gonad arms followed and abnormal migration path as viewed under Nomarski optics, compared to N2 (3%(n=108)).Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006865PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
Life_stageWBls:0000038PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
WBPhenotype:0000695Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
Remark5% (n=61) of animals exhibit grossly abnormal vulva morphology as compared to N2 (3%(n=32)).Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
Life_stageWBls:0000035PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
WBls:0000038PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
WBls:0000057PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
WBPhenotype:0000697Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
Remark26% (n=76) of animals have a protruding vulva.Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
WBPhenotype:0000746Paper_evidenceWBPaper00006298
Curator_confirmedWBPerson712
Remark17/24 pi cell daughters were observed dividing (2 animals scored). No pi cell daughters were observed to undergo divisions in N2 animals.Paper_evidenceWBPaper00006298
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007813PATO:0000460Paper_evidenceWBPaper00006298
Curator_confirmedWBPerson712
Life_stageWBls:0000038PATO:0000460Paper_evidenceWBPaper00006298
Curator_confirmedWBPerson712
WBPhenotype:0000825Paper_evidenceWBPaper00006298
Curator_confirmedWBPerson712
RemarkAs assayed by extra cell divisions of pi daughter cells.Paper_evidenceWBPaper00006298
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007813PATO:0000460Paper_evidenceWBPaper00006298
Curator_confirmedWBPerson712
Life_stageWBls:0000038PATO:0000460Paper_evidenceWBPaper00006298
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000688Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
Remark0% (n=76) of animals produce no progeny.Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
WBPhenotype:0001414Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00003386
Curator_confirmedWBPerson712
ReferenceWBPaper00003386
WBPaper00006298
RemarkManually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00001182 Acceptor
MethodSubstitution_allele