WormBase Tree Display for Variation: WBVar00249024

WBVar00249024 Evidence: Paper_evidence: WBPaper00006247
    Author_evidence: Hui Y
  Name: Public_name: sy628
    Other_name: CE07377:p.Trp55Ter
      K11G9.4.1:c.165G>A
    HGVSg: CHROMOSOME_V:g.6681403C>T
  Sequence_details: SMap: S_parent: Sequence: K11G9
    Flanking_sequences: aacagtgttccctacacttccaatgttctg aacccaacgctagttcaacagatgcttgcg
    Mapping_target: K11G9
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00006247
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030930
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00001210
    Transcript: K11G9.4.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K11G9.4.1:c.165G>A
        HGVSp: CE07377:p.Trp55Ter
        cDNA_position: 171
        CDS_position: 165
        Protein_position: 55
        Exon_number: 2/7
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor: WBInteraction000501596
      WBInteraction000501599
      WBInteraction000501601
      WBInteraction000501603
      WBInteraction000504552
      WBInteraction000504553
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00006247
    Forward_genetics: altered expression of ceh-26::gfp in the HOB hook neuron
  Genetics: Interpolated_map_position: V 0.132827
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00006247
        Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00006247
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006247
            Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: chIs1200[ceh-26::gfp+dpy-20(+)] III; him-5(e1490) V h Paper_evidence: WBPaper00006247
              Curator_confirmed: WBPerson48
      WBPhenotype:0000354 Paper_evidence: WBPaper00053860
        Curator_confirmed: WBPerson6578
        Remark: HSN differentiation deffects Paper_evidence: WBPaper00053860
            Curator_confirmed: WBPerson6578
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00053860
                Curator_confirmed: WBPerson6578
          GO_term: GO:0030182 PATO:0000460 Paper_evidence: WBPaper00053860
                Curator_confirmed: WBPerson6578
      WBPhenotype:0000649 Paper_evidence: WBPaper00006247
        Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00006247
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006247
            Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: chIs1200[ceh-26::gfp+dpy-20(+)] III; him-5(e1490) V h Paper_evidence: WBPaper00006247
              Curator_confirmed: WBPerson48
      WBPhenotype:0001279 Paper_evidence: WBPaper00006247
        Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: chIs1200[ceh-26::gfp+dpy-20(+)] III; him-5(e1490) V h Paper_evidence: WBPaper00006247
              Curator_confirmed: WBPerson48
  Reference: WBPaper00006247
    WBPaper00053860
  Remark: egl-46(n1127) has similar Lov phenotype and regulation on HOB-specific gene expression
  Method: Substitution_allele