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WormBase Tree Display for Variation: WBVar00275223

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Name Class

WBVar00275223EvidencePerson_evidenceWBPerson12082
NamePublic_namex29
Other_nameCE13451:p.Tyr449Ter
T08G11.5.1:c.1347T>A
HGVSgCHROMOSOME_I:g.8897941A>T
Sequence_detailsSMapS_parentSequenceT08G11
Flanking_sequencestgttcctccaacagttattccaaaaaatactaaagcagcaatcgatcgattatcattgcc
Mapping_targetT08G11
Type_of_mutationSubstitutionatCurator_confirmedWBPerson4055
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryZZ
StatusLive
AffectsGeneWBGene00006765
TranscriptT08G11.5.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT08G11.5.1:c.1347T>A
HGVSpCE13451:p.Tyr449Ter
cDNA_position1354
CDS_position1347
Protein_position449
Exon_number12/14
Codon_changetaT/taA
Amino_acid_changeY/*
InteractorWBInteraction000504040
WBInteraction000518497
WBInteraction000518498
WBInteraction000518941
GeneticsInterpolated_map_positionI3.27957
Mapping_dataIn_multi_point3119
DescriptionPhenotypeWBPhenotype:0000421Paper_evidenceWBPaper00035548
Curator_confirmedWBPerson712
WBPhenotype:0000436Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
RemarkGFP-OIG-4 protein was undetectable at NMJs in animals that did not express the L-AChR subunit UNC-29. However, GFP-OIG-4 remained expressed at wild-type levels based on western blot analysis and was normally secreted based on GFP detection in coelomocytes.Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00035548
Curator_confirmedWBPerson712
WBPhenotype:0001700Paper_evidenceWBPaper00032995
Person_evidenceWBPerson12082
Curator_confirmedWBPerson2021
WBPerson712
RemarkMutants display swimming defectsPaper_evidenceWBPaper00032995
Curator_confirmedWBPerson2021
Information submitted byCurator_confirmedWBPerson712
WBPhenotype:0002132Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
RemarkOIG-4 and LEV-10 no longer co-immunoprecipitate in the absence of UNC-29.Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
Variation_effectNullPaper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
ReferenceWBPaper00038066
WBPaper00035548
WBPaper00025762
WBPaper00032995
WBPaper00016088
WBPaper00016188
WBPaper00016087
RemarkVariation flanks and nucleotide change automatically updated to be on the positive strand to fix mapping and gff dumping issues.
[200224 mh6] reverse complemented/swapped the change and flanks to move the variation onto the plus strandCurator_confirmedWBPerson4055
MethodSubstitution_allele