WormBase Tree Display for Variation: WBVar00143752

WBVar00143752 Name: Public_name: e1111
    Other_name: W01C8.6.2:c.644G>A
      CE35792:p.Trp215Ter
      W01C8.6.1:c.644G>A
    HGVSg: CHROMOSOME_X:g.5709743C>T
  Sequence_details: SMap: S_parent: Sequence: E03E2
    Flanking_sequences: TTGCATTTGGAGATTCTTATTTCACACTAT GTTGGCTAGAGCACTACAAGGCGTGGGGTC
    Mapping_target: E03E2
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00000365
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004245
      WBStrain00033387
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000295
    Transcript: W01C8.6.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: W01C8.6.1:c.644G>A
        HGVSp: CE35792:p.Trp215Ter
        cDNA_position: 684
        CDS_position: 644
        Protein_position: 215
        Exon_number: 6/13
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      W01C8.6.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: W01C8.6.2:c.644G>A
        HGVSp: CE35792:p.Trp215Ter
        cDNA_position: 743
        CDS_position: 644
        Protein_position: 215
        Exon_number: 7/14
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000504903
  Genetics: Interpolated_map_position: X -4.39324
    Mapping_data: In_multi_point: 171
  Description: Phenotype (11)
    Phenotype_not_observed: WBPhenotype:0000039 Paper_evidence: WBPaper00040570
        Curator_confirmed: WBPerson8126
        Remark: Fig.1 (lifespan extension upon reserpine treatment, not different from wild type) Paper_evidence: WBPaper00040570
            Curator_confirmed: WBPerson8126
        Affected_by: Molecule: WBMol:00002955 Paper_evidence: WBPaper00040570
              Curator_confirmed: WBPerson8126
      WBPhenotype:0000456 Paper_evidence: WBPaper00000365
        Curator_confirmed: WBPerson712
      WBPhenotype:0000525 Paper_evidence: WBPaper00001861
        Curator_confirmed: WBPerson712
      WBPhenotype:0000905 Paper_evidence: WBPaper00000365
        Curator_confirmed: WBPerson712
        Remark: Assayed by EM examination, vesicles and processes of the ventral ganglion and nerve ring are not different from WT. Paper_evidence: WBPaper00000365
            Curator_confirmed: WBPerson712
      WBPhenotype:0001206 Paper_evidence: WBPaper00001861
        Curator_confirmed: WBPerson712
      WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: Mutants defective in the synthesis and reception of nonessential excitatory neurotransmitters respond normally to CO2 Paper_evidence: WBPaper00031936
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00031936
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 10% CO2 Paper_evidence: WBPaper00031936
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001780 Paper_evidence: WBPaper00029060
        Curator_confirmed: WBPerson2021
        Remark: Mutants show normal butanone enhancement Paper_evidence: WBPaper00029060
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00029060
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Preexposure to 1:10 dilution of butanone and food. Animals were then subjected to odorant chemotaxis assays and/or selection assays Paper_evidence: WBPaper00029060
              Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:670
      DOID:809
    Models_disease_in_annotation: WBDOannot00000684
      WBDOannot00000692
  Reference (16)
  Method: Substitution_allele