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WormBase Tree Display for Variation: WBVar00089103

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Name Class

WBVar00089103EvidencePerson_evidenceWBPerson625
NamePublic_namemn216
Other_nameZK1067.1c.1:c.1420G>A
ZK1067.1d.1:c.1441G>A
CE03840:p.Gly469Arg
CE50411:p.Gly481Arg
CE42891:p.Gly408Arg
ZK1067.1b.1:c.1222G>A
ZK1067.1a.1:c.1405G>A
CE42910:p.Gly474Arg
HGVSgCHROMOSOME_II:g.9201268G>A
Sequence_detailsSMapS_parentSequenceZK1067
Flanking_sequencescaatgcgatgacttggaagaactgagcttaaactcattgaaacttataaaaactgagctgtattaataatgaaaaatcatcgattgtgttatgtgtcgaaaattgattggtcatca
Mapping_targetZK1067
Type_of_mutationSubstitutiongaPerson_evidenceWBPerson625
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratorySP
PersonWBPerson625
StatusLive
AffectsGeneWBGene00002299
TranscriptZK1067.1d.1 (12)
ZK1067.1b.1 (12)
ZK1067.1c.1 (12)
ZK1067.1a.1 (12)
IsolationMutagenEMS
Forward_geneticsbalanced lethal
GeneticsInterpolated_map_positionII1.09443
DescriptionPhenotypeWBPhenotype:0000411Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000023PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
WBPhenotype:0000698Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RemarkOnly observed in a let-23 heteroallelic strain: mn216/n1045Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Phenotype_assayGenotypemn216/n1045Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
ReferenceWBPaper00014296
WBPaper00000762
WBPaper00014627
WBPaper00013924
WBPaper00001917
Remarkisolated by RK Herman; sequenced by Sternberg lab.
alt_det = G469R. gga to aga codon mut_det = g to a
Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00002299 Missense 469 G to R
MethodSubstitution_allele