WormBase Tree Display for Variation: WBVar00088613

WBVar00088613 Name: Public_name: m185
    Other_name: C04C3.5c.1:c.373C>T
      CE38264:p.Arg136Ter
      CE16811:p.Arg63Ter
      C04C3.5a.1:c.187C>T
      C04C3.5b.1:c.406C>T
      C04C3.5a.2:c.187C>T
      CE38265:p.Arg125Ter
    HGVSg: CHROMOSOME_IV:g.3398371G>A
  Sequence_details: SMap: S_parent: Sequence: C04C3
    Flanking_sequences: aaactgtcgaaagttcagatgcaggaggtc gaatcactcgtcagctatcatcacaactcc
    Mapping_target: C04C3
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00024960
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034374
    Laboratory: DR
    Status: Live
  Affects: Gene: WBGene00001119
    Transcript: C04C3.5c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C04C3.5c.1:c.373C>T
        HGVSp: CE38265:p.Arg125Ter
        cDNA_position: 373
        CDS_position: 373
        Protein_position: 125
        Exon_number: 3/8
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      C04C3.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C04C3.5a.1:c.187C>T
        HGVSp: CE16811:p.Arg63Ter
        cDNA_position: 514
        CDS_position: 187
        Protein_position: 63
        Exon_number: 5/11
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      C04C3.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C04C3.5b.1:c.406C>T
        HGVSp: CE38264:p.Arg136Ter
        cDNA_position: 406
        CDS_position: 406
        Protein_position: 136
        Exon_number: 4/9
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      C04C3.5a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C04C3.5a.2:c.187C>T
        HGVSp: CE16811:p.Arg63Ter
        cDNA_position: 274
        CDS_position: 187
        Protein_position: 63
        Exon_number: 3/9
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000520974
  Genetics: Interpolated_map_position: IV -4.54036
    Mapping_data: In_multi_point: 3060
        3063
  Description: Phenotype: WBPhenotype:0000013 Paper_evidence: WBPaper00002087
        Curator_confirmed: WBPerson48
        Remark: 1-20% as many dauers formed as for N2. Paper_evidence: WBPaper00002087
            Curator_confirmed: WBPerson48
      WBPhenotype:0000646 Paper_evidence: WBPaper00002087
        Curator_confirmed: WBPerson48
        Remark: Normal mobility when prodded. Paper_evidence: WBPaper00002087
            Curator_confirmed: WBPerson48
      WBPhenotype:0001434 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Chemotaxis defective. ME4(m185) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001435 Paper_evidence: WBPaper00002087
        Curator_confirmed: WBPerson48
        Remark: Chemotaxis frequency 0.12 versus 0.71 for N2. Paper_evidence: WBPaper00002087
            Curator_confirmed: WBPerson48
      WBPhenotype:0002053 Paper_evidence: WBPaper00055368
        Curator_confirmed: WBPerson466
        Remark: survive 10nM ivermectin Paper_evidence: WBPaper00055368
            Curator_confirmed: WBPerson466
        Affected_by: Molecule: WBMol:00002786 Paper_evidence: WBPaper00055368
              Curator_confirmed: WBPerson466
      WBPhenotype:0002535 Paper_evidence: WBPaper00002087
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: Defects in dye filling. Paper_evidence: WBPaper00002087
            Curator_confirmed: WBPerson48
          defective in dye (FITC or DiO) filling of amphid and phasmid neurons. Chemotaxis defective. ME4(m185) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002087
          Curator_confirmed: WBPerson48
    Phenotype_not_observed: WBPhenotype:0000398 Paper_evidence: WBPaper00002087
        Curator_confirmed: WBPerson48
      WBPhenotype:0000648 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: ME4 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00029016
    WBPaper00002087
    WBPaper00055368
  Method: Substitution_allele