WormBase Tree Display for Variation: WBVar00088446

WBVar00088446 Evidence: Paper_evidence: WBPaper00004669
  Name: Public_name: ky397
    Other_name: CE50862:p.Gln1092Ter
      CE44901:p.Gln1109Ter
      F59A6.1b.1:c.3274C>T
      F59A6.1a.1:c.3325C>T
    HGVSg: CHROMOSOME_II:g.5028087C>T
  Sequence_details: SMap: S_parent: Sequence: F33G12
    Flanking_sequences: tccaatagttcaagtcgattcttcatgctt aaaaggattcagaacgtagaagatccttgg
    Mapping_target: F33G12
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005266
      WBStrain00040556
    Laboratory: CX
    Status: Live
  Affects: Gene: WBGene00003822
    Transcript: F59A6.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F59A6.1a.1:c.3325C>T
        HGVSp: CE44901:p.Gln1109Ter
        cDNA_position: 3482
        CDS_position: 3325
        Protein_position: 1109
        Exon_number: 9/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F59A6.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F59A6.1b.1:c.3274C>T
        HGVSp: CE50862:p.Gln1092Ter
        cDNA_position: 3274
        CDS_position: 3274
        Protein_position: 1092
        Exon_number: 8/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000503570
      WBInteraction000504062
  Genetics: Interpolated_map_position: II -2.5918
  Description: Phenotype (6)
    Phenotype_not_observed: WBPhenotype:0000643 Paper_evidence: WBPaper00003760
        Curator_confirmed: WBPerson2021
        Remark: nsy-1 mutants are coordinated Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003760
          Curator_confirmed: WBPerson2021
      WBPhenotype:0001173 Paper_evidence: WBPaper00040855
        Curator_confirmed: WBPerson557
        Remark: Adult males show appropriate cell death of the linker cell. Paper_evidence: WBPaper00040855
            Curator_confirmed: WBPerson557
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001725 Paper_evidence: WBPaper00032031
        Curator_confirmed: WBPerson712
        Remark: Osmotic stress triggered upregulation of nlp-29 was not affected, based on the fluorescent ratio of control to experiment animals. Paper_evidence: WBPaper00032031
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Osmotic stress was done in liquid by incubating young adult worms in 300 mM NaCl for 6 h, with analysis occuring 24 hours later. Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
          Genotype: frIs7 Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
  Reference: WBPaper00040855
    WBPaper00041562
    WBPaper00006052
    WBPaper00032031
    WBPaper00003760
    WBPaper00005370
    WBPaper00031666
    WBPaper00035315
    WBPaper00025473
  Method: Substitution_allele