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WormBase Tree Display for Variation: WBVar00323242

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Name Class

WBVar00323242EvidencePaper_evidenceWBPaper00038066
NamePublic_namekr193
Other_nameR07G3.9.1:c.168+5G>A
HGVSgCHROMOSOME_II:g.7613795G>A
Sequence_detailsSMapS_parentSequenceR07G3
Flanking_sequencesTTCAAACGGTTTTGTCAGATAATAGAGCGATTTCAGAAATAAAAAAAATGATACAAAATT
Mapping_targetR07G3
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00038066
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryEN
StatusLive
AffectsGeneWBGene00043050
TranscriptR07G3.9.1VEP_consequencesplice_region_variant,intron_variant
VEP_impactLOW
HGVScR07G3.9.1:c.168+5G>A
Intron_number2/5
InteractorWBInteraction000501252
GeneticsInterpolated_map_positionII0.506578
DescriptionPhenotypeWBPhenotype:0000112Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
RemarkLEV-9 protein was barely detectable by immunoprecipitation(IP) in oig-4 mutant extracts. However, LEV-10 was expressed at levels similar to the wild type based on western blot analysis of fractionated worm extracts. Also western blot analysis of L-AChR subunit UNC-29 expression indicated that the L-AChR expression level was similar to wild type.Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
WBPhenotype:0000845Paper_evidenceWBPaper00038066
Person_evidenceWBPerson6376
Curator_confirmedWBPerson712
RemarkThe levamisole sensitivity of these mutants is intermediate between the wild-type and the lev-9 and lev-10 mutants when assaying paralysis after both short and prolonged exposure to levamisole. The decreased sensitivity to levamisole was rescued by providing a 2.3-kb genomic fragment encompassing the oig-4 coding region surrounded by 1.1 kb upstream and 0.4 kb downstream to the ORF.Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
WBPhenotype:0001316Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
RemarkThe size of the L-AChR-dependent evoked responses of oig-4 mutants was similar to the wild type. In unc-49; acr-16; oig-4 triple mutants, the time-to-peak and decay time of the evoked currents were significantly increased when compared with unc-49; acr-16.Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
Phenotype_assayGenotypeThis analysis was performed in an acr-16; unc-49 double mutant background to eliminate currents due to the activation of N-AChRs and GABA receptors.Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
WBPhenotype:0001852Person_evidenceWBPerson6376
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000062Person_evidenceWBPerson6376
Curator_confirmedWBPerson712
WBPhenotype:0000520Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
RemarkOther than altered levamisole sensitivity, no additional phenotype could be identified..Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
RemarkOther than altered levamisole sensitivity, no additional phenotype could be identified..Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
WBPhenotype:0000688Person_evidenceWBPerson6376
Curator_confirmedWBPerson712
WBPhenotype:0001015Person_evidenceWBPerson6376
Curator_confirmedWBPerson712
WBPhenotype:0002165Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
RemarkPressure-ejection of levamisole on voltage-clamped muscle cells elicited currents similar in oig-4 null mutants and wild-type animals.Paper_evidenceWBPaper00038066
Curator_confirmedWBPerson712
ReferenceWBPaper00038066
MethodSubstitution_allele