WormBase Tree Display for Variation: WBVar00051617

WBVar00051617 Evidence: Paper_evidence: WBPaper00026712
  Name: Public_name: cc615
    Other_name: C39E6.4.1:c.76C>T
      CE30891:p.Gln26Ter
    HGVSg: CHROMOSOME_X:g.4761537G>A
  Sequence_details: SMap: S_parent: Sequence: C39E6
    Flanking_sequences: agctcgcaagaacgtctcgaaaaaatgtca aacttccaaagattgaactgatggaggaag
    Mapping_target: C39E6
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00026712
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026332
    Laboratory: PD
    Status: Live
  Affects: Gene: WBGene00003377
    Transcript: C39E6.4.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C39E6.4.1:c.76C>T
        HGVSp: CE30891:p.Gln26Ter
        cDNA_position: 104
        CDS_position: 76
        Protein_position: 26
        Exon_number: 2/8
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000502169
      WBInteraction000502723
      WBInteraction000561295
  Genetics: Interpolated_map_position: X -6.69088
    Mapping_data: In_multi_point: 4493
  Description: Phenotype: WBPhenotype:0000411 Paper_evidence: WBPaper00041013
        Curator_confirmed: WBPerson43879
        Penetrance: Incomplete: Paper_evidence: WBPaper00041013
              Curator_confirmed: WBPerson43879
        Variation_effect: Null: Paper_evidence: WBPaper00041013
            Curator_confirmed: WBPerson43879
        Temperature_sensitive: Cold_sensitive: Paper_evidence: WBPaper00041013
              Curator_confirmed: WBPerson43879
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00041013
              Curator_confirmed: WBPerson43879
      WBPhenotype:0000858 Paper_evidence: WBPaper00041013
        Curator_confirmed: WBPerson43879
        Remark: Figure 2. Incompletely penetrant and cold sensitive lethal excretory system defects Paper_evidence: WBPaper00041013
            Curator_confirmed: WBPerson43879
        Penetrance: Incomplete: Paper_evidence: WBPaper00041013
              Curator_confirmed: WBPerson43879
        Variation_effect: Null: Paper_evidence: WBPaper00041013
            Curator_confirmed: WBPerson43879
        Temperature_sensitive: Cold_sensitive: Paper_evidence: WBPaper00041013
              Curator_confirmed: WBPerson43879
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00041013
              Curator_confirmed: WBPerson43879
      WBPhenotype:0001276 Paper_evidence: WBPaper00056862
        Curator_confirmed: WBPerson712
        Remark: We first examined the expression pattern of stably integrated reporters for sra-6p::gfp, osm-10p::gfp and ceh-23p::gfp in mls-2(cc615) loss-of-function mutant animals. In addition to being expressed in the native ASH neurons, for each transgene we confirmed ectopic marker expression unilaterally or bilaterally in the ectopic ASH-like cells of mls-2(cc615) mutant animals, which were identified by dye-filling (Figure 1). We note that there was no obvious directional bias as to which side of the bilateral ASH-like pair the unilateral ectopic expression arose (Figure 1B). Paper_evidence: WBPaper00056862
            Curator_confirmed: WBPerson712
        Image: WBPicture0000014902 Paper_evidence: WBPaper00056862
            Curator_confirmed: WBPerson712
      WBPhenotype:0001789 Paper_evidence: WBPaper00041013
        Curator_confirmed: WBPerson43879
        Remark: Figure 2. Incompletely penetrant and cold sensitive lethal excretory system defects Paper_evidence: WBPaper00041013
            Curator_confirmed: WBPerson43879
        Penetrance: Incomplete: Paper_evidence: WBPaper00041013
              Curator_confirmed: WBPerson43879
        Variation_effect: Null: Paper_evidence: WBPaper00041013
            Curator_confirmed: WBPerson43879
        Temperature_sensitive: Cold_sensitive: Paper_evidence: WBPaper00041013
              Curator_confirmed: WBPerson43879
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00041013
              Curator_confirmed: WBPerson43879
  Reference: WBPaper00026050
    WBPaper00019783
    WBPaper00010835
    WBPaper00056862
    WBPaper00041013
  Remark: In addition to the Q(26)stop mutation there is an E(55)D mutation with flanks agataataagattaaattcaatatttctga & ttgctggaagatgacagaaaaccgtaagtt Paper_evidence: WBPaper00026712
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00003377 Missense 55 E to D Paper_evidence: WBPaper00026712
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00003377 Ochre_UAA Q(26) to stop Paper_evidence: WBPaper00026712
      Person_evidence: WBPerson1659"
        WBPerson1659
  Method: Substitution_allele