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WormBase Tree Display for Variation: WBVar00239329

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Name Class

WBVar00239329EvidencePaper_evidenceWBPaper00006028
NamePublic_namepk710
Other_nameCE40346:p.Trp193Ter
B0379.3a.1:c.578G>A
B0379.3b.1:c.566G>A
CE40347:p.Trp189Ter
HGVSgCHROMOSOME_I:g.10080870G>A
Sequence_detailsSMapS_parentSequenceB0379
Flanking_sequencesaacacgcccatgcacttgtacgaggaggttgctgcagtccaaagagggcgcattctttcc
Mapping_targetB0379
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00006028
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00028974
LaboratoryNL
StatusLive
AffectsGeneWBGene00003508
TranscriptB0379.3a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0379.3a.1:c.578G>A
HGVSpCE40346:p.Trp193Ter
cDNA_position581
CDS_position578
Protein_position193
Exon_number5/16
Codon_changetGg/tAg
Amino_acid_changeW/*
B0379.3b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0379.3b.1:c.566G>A
HGVSpCE40347:p.Trp189Ter
cDNA_position569
CDS_position566
Protein_position189
Exon_number5/16
Codon_changetGg/tAg
Amino_acid_changeW/*
GeneticsInterpolated_map_positionI4.60688
DescriptionPhenotypeWBPhenotype:0000059Paper_evidenceWBPaper00059651
Curator_confirmedWBPerson712
RemarkOne thousand L1 stage animals of each strain were plated at 20C. After seventy-two hours, the developmental stage of the individuals was assessed. We found that 28% of both mut-16 and mut-16(pk710) mutant individuals arrested as larvae compared to 0% of wild-type individuals (Figure 1).Paper_evidenceWBPaper00059651
Curator_confirmedWBPerson712
WBPhenotype:0001208Paper_evidenceWBPaper00041208
Curator_confirmedWBPerson2733
ReferenceWBPaper00041208
WBPaper00006028
WBPaper00059651
WBPaper00065001
MethodSubstitution_allele