WormBase Tree Display for Variation: WBVar00093396

WBVar00093396 Name: Public_name: ok2232
    Other_name: R10E11.3a.1:c.125_943-29del
      R10E11.3b.1:c.94-5_907-29del
    HGVSg: CHROMOSOME_III:g.9776810_9778249del
  Sequence_details: SMap: S_parent: Sequence: R10E11
    Flanking_sequences: ttggaaatacatgttactgcaactcagtga cgcagcataataatgatcaaattttcagag
    Mapping_target: R10E11
    Type_of_mutation: Deletion
    PCR_product: ok2232_external
      ok2232_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00032438
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00011216
    Transcript: R10E11.3b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10E11.3b.1:c.94-5_907-29del
        Intron_number: 1-5/5
        Exon_number: 2-5/6
      R10E11.3a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10E11.3a.1:c.125_943-29del
        cDNA_position: 140-?
        CDS_position: 125-?
        Protein_position: 42-?
        Intron_number: 3-6/7
        Exon_number: 3-6/8
    Interactor: WBInteraction000569089
  Isolation: Mutagen: EMS
  Description: Phenotype: WBPhenotype:0001278 Paper_evidence: WBPaper00044602
        Curator_confirmed: WBPerson10038
        Remark: Quoted from paper, "The increase in GLR-1::GFP punctum intensity observed in the VNC of animals overexpressing WDR-20 and WDR-48 (Pglr-1::wdr-20/wdr-48)(Fig. 5,C-E) was partially reduced in the usp-46 null mutant background (D and E). These data reveal that the WDR-20/WDR-48-induced increase in GLR-1::GFP in the VNC is partially dependent on usp-46." Paper_evidence: WBPaper00044602
            Curator_confirmed: WBPerson10038
        Phenotype_assay: Genotype: nuIs24(Pglr-1::glr-1::GFP) Paper_evidence: WBPaper00044602
              Curator_confirmed: WBPerson10038
  Reference: WBPaper00044602
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele