WormBase Tree Display for Variation: WBVar00142949

WBVar00142949 Name: Public_name: e75
    Other_name (34)
    HGVSg: CHROMOSOME_X:g.5583826C>T
  Sequence_details: SMap: S_parent: Sequence: F14D12
    Flanking_sequences: aagagattctatcaaaagattccgtgacagtcg tgtcgatgctgtcgtttatttccgaatttc
    Mapping_target: F14D12
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002482
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004092
      WBStrain00004463
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003166
    Transcript: F14D12.4a.1 (12)
      F14D12.4k.1 (12)
      F14D12.4i.1 (12)
      F14D12.4c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.997 probably_damaging
        HGVSc: F14D12.4c.1:c.386C>T
        HGVSp: CE37633:p.Ala129Val
        cDNA_position: 650
        CDS_position: 386
        Protein_position: 129
        Exon_number: 5/11
        Codon_change: gCt/gTt
        Amino_acid_change: A/V
      F14D12.4l.1 (12)
      F14D12.4h.1 (12)
      F14D12.4g.1 (12)
      F14D12.4b.1 (12)
      F14D12.4e.1 (12)
      F14D12.4m.1 (12)
      F14D12.4j.1 (12)
      F14D12.4q.1 (12)
      F14D12.4f.1 (12)
      F14D12.4o.1 (12)
      F14D12.4n.1 (12)
      F14D12.4p.1 (12)
      F14D12.4d.1 (12)
  Genetics: Interpolated_map_position: X -4.6377
    Mapping_data: In_multi_point: 415
        618
        731
        732
      In_pos_neg_data: 940
        1832
  Description: Phenotype: WBPhenotype:0000247 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Mutants behave like WT in a Na+ gradient assay; however, mutants are 15% responsive to Na+ in a behavior orientation assay. WT worms are 95% responsive (based on sustained distance from attractant). Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
      WBPhenotype:0000254 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Mutants are 5% responsive to Cl- in behavior orientation assay (based on sustained distance from attractant), WT are 70% responsive. Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
      WBPhenotype:0000456 Paper_evidence: WBPaper00000214
          WBPaper00000502
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weak variable Mec Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00000502
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
      WBPhenotype:0001213 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Mutants are lethargic in bacteria but active on a bare plate. Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
      WBPhenotype:0001438 Paper_evidence: WBPaper00001786
        Curator_confirmed: WBPerson2021
        Remark: Defective in chemotaxis to volatile odorants including benzaldehyde, 2-butanone and isoamyl alcohol (Data not shown). Paper_evidence: WBPaper00001786
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00001786
                Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000067 Paper_evidence: WBPaper00003582
        Curator_confirmed: WBPerson712
        Remark: mutants showed a normal feeding inhibition response when exposed to either cadmium or captan Paper_evidence: WBPaper00003582
            Curator_confirmed: WBPerson712
      WBPhenotype:0000412 Paper_evidence: WBPaper00003408
        Curator_confirmed: WBPerson557
      WBPhenotype:0000637 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
      WBPhenotype:0000663 Paper_evidence: WBPaper00003408
        Curator_confirmed: WBPerson557
      WBPhenotype:0001221 Paper_evidence: WBPaper00003408
        Curator_confirmed: WBPerson557
      WBPhenotype:0004004 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
        Remark: Males exhibit continued tactile sexual behavior. Paper_evidence: WBPaper00000214
            Curator_confirmed: WBPerson712
  Reference (15)
  Method: Substitution_allele