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WormBase Tree Display for Variation: WBVar00248969

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Name Class

WBVar00248969EvidencePaper_evidenceWBPaper00024331
NamePublic_namesy324
Other_nameC54D1.6.1:c.910C>T
CE08973:p.Gln304Ter
HGVSgCHROMOSOME_X:g.7168690G>A
Sequence_detailsSMapS_parentSequenceC54D1
Flanking_sequencesaaaatcaagtttgtgaaaatgggaggacctaaaaactgctcatgctactacaacacagag
Mapping_targetC54D1
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00024331
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryPS
StatusLive
AffectsGeneWBGene00000238
TranscriptC54D1.6.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC54D1.6.1:c.910C>T
HGVSpCE08973:p.Gln304Ter
cDNA_position919
CDS_position910
Protein_position304
Exon_number9/19
Codon_changeCaa/Taa
Amino_acid_changeQ/*
InteractorWBInteraction000001242
IsolationMutagenEMS
GeneticsInterpolated_map_positionX-1.80994
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00004408
Person_evidenceWBPerson156
Curator_confirmedWBPerson48
WBPerson2987
RemarkEgl/Pvl due to defects in vulval precursor cell induction.Person_evidenceWBPerson156
Curator_confirmedWBPerson48
Table 3Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
PenetranceIncomplete12% penetrantPaper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
RecessivePerson_evidenceWBPerson156
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson156
Curator_confirmedWBPerson48
WBPhenotype:0000038Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
RemarkTable 3Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
PenetranceLow5% penetrantPaper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
WBPhenotype:0000216Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
RemarkTable 3Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
PenetranceIncomplete66Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004409PATO:0000460Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
GO_termGO:0001708PATO:0000460Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
Phenotype_assayTemperature20Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
GenotypemuIs35 [mec-7::GFP]; ccIs9753 [myo-2::GFP, pes-10::gfp, F22B7.9::gfp]Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
WBPhenotype:0000414Paper_evidenceWBPaper00004408
WBPaper00004662
Person_evidenceWBPerson156
Curator_confirmedWBPerson48
WBPerson2987
RemarkP12 to P11 cell fate transformation.Person_evidenceWBPerson156
Curator_confirmedWBPerson48
Animals exhibit two large P11.p-like hypodermal nuclei immediately anterior to the anus, indicating a P12 to P11 cell-fate transformation (Table 3)Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
"We therefore determined the orientation of P(11/12)L/R migration in mutants affecting P12 determination: a lin-44; lin-3 double mutant, a lin-17 mutant (LIN-17 is the putative receptor of Wnt/LIN-44; Herman et_al, 1995; Sawa et_al, 1996), a bar-1 mutant (BAR-1/Armadillo is an effector of the Wnt pathway; Eisenmann et_al, 1998), and an egl-5 mutant. In all mutants observed, both cells of the P11/12 pair generally adopt the P11 fate (Table 1A). If the migration handedness was a consequence of fate determination, it should be unbiased in these mutants. However, we see a biased migration pattern of P(11/12)L/R similar to that of wild type (Table 1A). Thus, a left-right asymmetry between the two cells of the P11/12 pair still exists in mutants of their final fate determination."Paper_evidenceWBPaper00004662
Curator_confirmedWBPerson2987
PenetranceIncomplete89% penetrantPaper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
Complete100Paper_evidenceWBPaper00004662
Curator_confirmedWBPerson2987
RecessivePerson_evidenceWBPerson156
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson156
Curator_confirmedWBPerson48
EQ_annotationsAnatomy_termWBbt:0006899PATO:0000460Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
WBbt:0006900PATO:0000460Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
WBbt:0004409PATO:0000460Paper_evidenceWBPaper00004662
Curator_confirmedWBPerson2987
WBPhenotype:0000469Paper_evidenceWBPaper00024331
Person_evidenceWBPerson156
Curator_confirmedWBPerson48
WBPerson2987
RemarkDefects in migration of the QL progeny.Person_evidenceWBPerson156
Curator_confirmedWBPerson48
Table 3Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
PenetranceComplete100Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
RecessivePerson_evidenceWBPerson156
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson156
Curator_confirmedWBPerson48
EQ_annotationsAnatomy_termWBbt:0004056PATO:0000460Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
GO_termGO:0097402PATO:0000460Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
Phenotype_assayTemperature20Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
GenotypemuIs35 [mec-7::GFP]; ccIs9753 [myo-2::GFP, pes-10::gfp, F22B7.9::gfp]Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
WBPhenotype:0000695Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
RemarkTable 3Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
PenetranceIncomplete37% penetrantPaper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
WBPhenotype:0000697Paper_evidenceWBPaper00004408
Person_evidenceWBPerson156
Curator_confirmedWBPerson48
WBPerson2987
RemarkEgl/Pvl due to defects in vulval precursor cell induction.Person_evidenceWBPerson156
Curator_confirmedWBPerson48
Table 3Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
PenetranceIncomplete16% penetrantPaper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
RecessivePerson_evidenceWBPerson156
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson156
Curator_confirmedWBPerson48
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
WBPhenotype:0000886Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
RemarkAuthors scored for animals on plate that showed Egl (egg laying defective), Pvl (protruding vulva), Bag (bag of worms), or Spew (burst through vulva) phenotypes (Table 3)Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
PenetranceComplete100Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
Phenotype_assayTemperature20Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
GenotypemuIs35 [mec-7::GFP]; ccIs9753 [myo-2::GFP, pes-10::gfp, F22B7.9::gfp]Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
WBPhenotype:0001272Paper_evidenceWBPaper00024331
Person_evidenceWBPerson156
Curator_confirmedWBPerson48
WBPerson2987
RemarkTable 3Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
PenetranceIncomplete21Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
RecessivePerson_evidenceWBPerson156
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson156
Curator_confirmedWBPerson48
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
GO_termGO:0040025PATO:0000460Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
Phenotype_assayTemperature20Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
GenotypemuIs35 [mec-7::GFP]; ccIs9753 [myo-2::GFP, pes-10::gfp, F22B7.9::gfp]Paper_evidenceWBPaper00024331
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000594Paper_evidenceWBPaper00004662
Curator_confirmedWBPerson2987
Remark"We therefore determined the orientation of P(11/12)L/R migration in mutants affecting P12 determination: a lin-44; lin-3 double mutant, a lin-17 mutant (LIN-17 is the putative receptor of Wnt/LIN-44; Herman et_al, 1995; Sawa et_al, 1996), a bar-1 mutant (BAR-1/Armadillo is an effector of the Wnt pathway; Eisenmann et_al, 1998), and an egl-5 mutant. In all mutants observed, both cells of the P11/12 pair generally adopt the P11 fate (Table 1A). If the migration handedness was a consequence of fate determination, it should be unbiased in these mutants. However, we see a biased migration pattern of P(11/12)L/R similar to that of wild type (Table 1A). Thus, a left-right asymmetry between the two cells of the P11/12 pair still exists in mutants of their final fate determination."Paper_evidenceWBPaper00004662
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004409PATO:0000460Paper_evidenceWBPaper00004662
Curator_confirmedWBPerson2987
WBPhenotype:0000690Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
RemarkTable 3Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005175PATO:0000460Paper_evidenceWBPaper00004408
Curator_confirmedWBPerson2987
ReferenceWBPaper00024331
WBPaper00004408
WBPaper00004662
MethodSubstitution_allele