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WormBase Tree Display for Variation: WBVar00088912

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Name Class

WBVar00088912EvidencePaper_evidenceWBPaper00003568
NamePublic_namemg142
Other_nameH42K12.1a.1:c.908C>T
H42K12.1b.1:c.914C>T
CE28740:p.Ala305Val
CE28739:p.Ala303Val
HGVSgCHROMOSOME_X:g.1325256C>T
Sequence_detailsSMapS_parentSequenceH33H01
Flanking_sequencesgattgggatgtatccttttccagtgtctagcggacagccaccattcagagccgtcaacca
Mapping_targetH33H01
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00003568
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00007900
WBStrain00030725
WBStrain00030727
LaboratoryGR
StatusLive
AffectsGeneWBGene00003965
TranscriptH42K12.1b.1 (12)
H42K12.1a.1 (12)
InteractorWBInteraction000518715
WBInteraction000518718
WBInteraction000524615
GeneticsInterpolated_map_positionX-18.3874
DescriptionPhenotypeWBPhenotype:0000643Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
RemarkRescues movement defect in daf-2(m41)Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
Phenotype_assayGenotypedaf-2(m41)Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
WBPhenotype:0001171Paper_evidenceWBPaper00003568
Curator_confirmedWBPerson712
RemarkLifespan is slightly shortened compared to wild type.Paper_evidenceWBPaper00003568
Curator_confirmedWBPerson712
DominantPaper_evidenceWBPaper00003568
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00003568
Curator_confirmedWBPerson712
Phenotype_assayGenotypesqt-1(sc13)Paper_evidenceWBPaper00003568
Curator_confirmedWBPerson712
WBPhenotype:0001645Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
RemarkBlocks muscle protein degradation in daf-2(m41)Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
Blocks protein degradation in response to treatment with the AGE-1 inhibitor LY-294002Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
Affected_byMoleculeWBMol:00005384Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
Phenotype_assayGenotypedaf-2(m41)Paper_evidenceWBPaper00029116
Curator_confirmedWBPerson1754
WBPhenotype:0001999Paper_evidenceWBPaper00037970
Curator_confirmedWBPerson2987
RemarkThe integration of signals for attraction to diacetyl (100x dilute) and avoidance from copper (100 millimolar) was impaired in pdk-1(mg142) insulin-like signaling pathway mutants, resulting in fewer animals crossing the copper barrier to get to the diacetyl spot than in wild type controls (Figure 1C)Paper_evidenceWBPaper00037970
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00002862Paper_evidenceWBPaper00037970
Curator_confirmedWBPerson2987
WBMol:00002819Paper_evidenceWBPaper00037970
Curator_confirmedWBPerson2987
WBPhenotype:0004016Paper_evidenceWBPaper00050708
Curator_confirmedWBPerson14035
Phenotype_not_observedWBPhenotype:0000436Paper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
RemarkLocalization of the synaptic protein SNB-1 is normal, based on transgene analysis with a reporter.Paper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
WBPhenotype:0000886Paper_evidenceWBPaper00003568
Curator_confirmedWBPerson712
RemarkThe mg142 dominant Daf-c suppressor mutation has no phenotype on its own.Paper_evidenceWBPaper00003568
Curator_confirmedWBPerson712
ReferenceWBPaper00037970
WBPaper00028886
WBPaper00003568
WBPaper00029116
WBPaper00015792
WBPaper00050708
MethodSubstitution_allele