WormBase Tree Display for Variation: WBVar00088114

WBVar00088114 Evidence: Paper_evidence: WBPaper00003101
  Name: Public_name: js115
    Other_name: F56A8.7b.1:c.211C>T
      F56A8.7a.2:c.211C>T
      CE28035:p.Gln71Ter
      CE16127:p.Gln71Ter
      F56A8.7a.1:c.211C>T
    HGVSg: CHROMOSOME_III:g.13278663C>T
  Sequence_details: SMap: S_parent: Sequence: F56A8
    Flanking_sequences: tcggcaattttatcaaatccagttaacgat agagtatgttttaaaaaactgaacttttag
    Mapping_target: F56A8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003101
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029049
    Laboratory: NM
    Status: Live
  Affects: Gene: WBGene00006798
    Transcript: F56A8.7b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F56A8.7b.1:c.211C>T
        HGVSp: CE28035:p.Gln71Ter
        cDNA_position: 321
        CDS_position: 211
        Protein_position: 71
        Exon_number: 4/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      F56A8.7a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F56A8.7a.2:c.211C>T
        HGVSp: CE16127:p.Gln71Ter
        cDNA_position: 322
        CDS_position: 211
        Protein_position: 71
        Exon_number: 4/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      F56A8.7a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F56A8.7a.1:c.211C>T
        HGVSp: CE16127:p.Gln71Ter
        cDNA_position: 319
        CDS_position: 211
        Protein_position: 71
        Exon_number: 4/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: III 21.1945
  Description: Phenotype: WBPhenotype:0001316 Paper_evidence: WBPaper00032190
        Curator_confirmed: WBPerson712
        Remark: GABA Light-evoked currents (GABA photo-ePSCs) were drastically reduced. Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: ChR2-YFP was activated in animals swimming in liquid, or on solid substrates, by applying 450-490 nm light. The chromophore essential fro ChR2 function was supplied by growing transgenic animals on medium containing all-trans retinal. Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
          Genotype: zxIs6 Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00032190
        Curator_confirmed: WBPerson712
        Remark: Expression of ChR2-YFP in GABAergic neurons was not affected. Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: zxIs3 Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
  Reference: WBPaper00017428
    WBPaper00032190
    WBPaper00018583
    WBPaper00016961
  Method: Substitution_allele