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WormBase Tree Display for Variation: WBVar00051562

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Name Class

WBVar00051562EvidencePaper_evidenceWBPaper00003138
NamePublic_namecc561
Other_nameCE30067:p.Gln222Ter
B0304.1a.2:c.652C>T
B0304.1a.1:c.652C>T
CE02423:p.Gln222Ter
B0304.1b.1:c.664C>T
B0304.1c.1:c.664C>T
CE31766:p.Gln218Ter
HGVSgCHROMOSOME_II:g.4521482C>T
Sequence_detailsSMapS_parentSequenceB0304
Flanking_sequencescaagccggaaaaatgacaaagattatggagagaaccagcatttgcagatgacacagcaga
Mapping_targetB0304
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00024340
WBStrain00024341
WBStrain00030583
Component_of_genotypeWBGenotype00000012
LaboratoryPD
StatusLive
AffectsGeneWBGene00001948
TranscriptB0304.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0304.1a.1:c.652C>T
HGVSpCE31766:p.Gln218Ter
cDNA_position656
CDS_position652
Protein_position218
Exon_number4/8
Codon_changeCag/Tag
Amino_acid_changeQ/*
B0304.1c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0304.1c.1:c.664C>T
HGVSpCE30067:p.Gln222Ter
cDNA_position670
CDS_position664
Protein_position222
Exon_number4/8
Codon_changeCag/Tag
Amino_acid_changeQ/*
B0304.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0304.1b.1:c.664C>T
HGVSpCE02423:p.Gln222Ter
cDNA_position666
CDS_position664
Protein_position222
Exon_number4/8
Codon_changeCag/Tag
Amino_acid_changeQ/*
B0304.1a.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0304.1a.2:c.652C>T
HGVSpCE31766:p.Gln218Ter
cDNA_position756
CDS_position652
Protein_position218
Exon_number5/9
Codon_changeCag/Tag
Amino_acid_changeQ/*
Interactor (13)
GeneticsInterpolated_map_positionII-4.10405
DescriptionPhenotypeWBPhenotype:0000050Paper_evidenceWBPaper00025190
Curator_confirmedWBPerson712
PenetranceLowPaper_evidenceWBPaper00025190
Curator_confirmedWBPerson712
WBPhenotype:0000053Paper_evidenceWBPaper00025190
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00025190
Curator_confirmedWBPerson712
WBPhenotype:0000134Paper_evidenceWBPaper00064214
Curator_confirmedWBPerson5063
RemarkReduced hlh-1 expression with age.Paper_evidenceWBPaper00064214
Curator_confirmedWBPerson5063
WBPhenotype:0000583Paper_evidenceWBPaper00025190
Curator_confirmedWBPerson712
RemarkA large fraction of embryos that do hatch are Dpy.Paper_evidenceWBPaper00025190
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00025190
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00025190
WBPaper00064214
Curator_confirmedWBPerson712
WBPerson5063
RemarkA large fraction of embryos that do hatch are Unc.Paper_evidenceWBPaper00025190
Curator_confirmedWBPerson712
Fig. 1 temperature-dependent UNC in animals shifted to 25C post-embryonic (L1-L3, but not L4)Paper_evidenceWBPaper00064214
Curator_confirmedWBPerson5063
PenetranceIncompletePaper_evidenceWBPaper00025190
Curator_confirmedWBPerson712
WBPhenotype:0000861Paper_evidenceWBPaper00025033
Curator_confirmedWBPerson2987
Remark"Hermaphrodites heterozygous for the balanced hlh-1(cc450) null allele (Chen et al., 1992) were treated with mex-3, pop-1 double RNAi and progeny embryos collected. If HLH-1 was required for PAL-1 to induce muscle, 25% of the embryos (corresponding to the homozygous hlh-1(cc450) animals) should not respond to PAL-1. However, all treated embryos resulted in widespread body wall muscle-like myogenesis demonstrating that HLH-1 activity was not required for PAL-1-induced myogenesis (Fig. 7). We did notice that 22% (n=196) of the embryos showed less robust myogenesis, based on MHC A filament formation (Fig. 7B). These experiments were repeated using the temperature-sensitive hlh-1 allele cc561 (Harfe et al., 1998a), or hlh-1 RNAi for which the genotype of each embryo was unambiguous and the same results were obtained (Fig. 7C); myogenesis occurred but was not as robust in the absence of HLH-1."Paper_evidenceWBPaper00025033
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0007525PATO:0000460Paper_evidenceWBPaper00025033
Curator_confirmedWBPerson2987
Phenotype_assayGenotypemex-3, pop-1 double RNAiPaper_evidenceWBPaper00025033
Curator_confirmedWBPerson2987
WBPhenotype:0001569Paper_evidenceWBPaper00064214
Curator_confirmedWBPerson5063
RemarkFig. 1 temperature-dependent UNC in animals shifted to 25C post-embryonic.Paper_evidenceWBPaper00064214
Curator_confirmedWBPerson5063
WBPhenotype:0002575Paper_evidenceWBPaper00064214
Curator_confirmedWBPerson5063
RemarkSome HLH-1-dependent genes are down-regulated, specifically under restrictive conditions, and are rescued by disrupting smg pathway.Paper_evidenceWBPaper00064214
Curator_confirmedWBPerson5063
ReferenceWBPaper00025979
WBPaper00025190
WBPaper00025033
WBPaper00061173
WBPaper00064214
Remark
MethodSubstitution_allele