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WormBase Tree Display for Variation: WBVar02147345

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Name Class

WBVar02147345EvidencePaper_evidenceWBPaper00050412
NamePublic_nameuth2
Other_nameCE46695:p.Glu367Lys
CE39067:p.Glu367Lys
Y71G12B.9b.1:c.1099G>A
Y71G12B.9a.1:c.1099G>A
HGVSgCHROMOSOME_I:g.1762335G>A
Sequence_detailsSMapS_parentSequenceY71G12B
Flanking_sequencesgtgtccgcactgacagaagagctgaaaaagagaagctggctcacgcgggaacccgttcag
Mapping_targetY71G12B
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00050412
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryAGD
StatusLive
AffectsGeneWBGene00022149
TranscriptY71G12B.9b.1 (12)
Y71G12B.9a.1 (12)
InteractorWBInteraction000537568
WBInteraction000537569
GeneticsInterpolated_map_positionI-12.9088
DescriptionPhenotypeWBPhenotype:0001278Paper_evidenceWBPaper00050412
Curator_confirmedWBPerson2987
Remark"We isolated 16 mutant strains that exhibited a partial or complete suppression of PolyQ-dependent hsp-6p::gfp expression in the F2 generation. The strong and stable suppression of the reporter GFP expression in a strain carrying the uth2 mutation caused us to prioritize it for additional characterization (Figure S1A)."Paper_evidenceWBPaper00050412
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0034514PATO:0000460Paper_evidenceWBPaper00050412
Curator_confirmedWBPerson2987
Phenotype_assayGenotypezcs13 [hsp-6p::GFP]; rmIs101 [rgef-1p::Q40::YFP]Paper_evidenceWBPaper00050412
Curator_confirmedWBPerson2987
ReferenceWBPaper00050412
MethodSubstitution_allele