WormBase Tree Display for Variation: WBVar00143035

WBVar00143035 Evidence: Paper_evidence: WBPaper00004275
  Name: Public_name: e205
    Other_name: JC8.10b.1:c.2708G>A
      JC8.10a.1:c.2690G>A
      CE29050:p.Trp903Ter
      CE28239:p.Trp897Ter
    HGVSg: CHROMOSOME_IV:g.13263617C>T
  Sequence_details: SMap: S_parent: Sequence: JC8
    Flanking_sequences: agctgagcaaattcgacgatggcgatctat gattgtactgaatagtggagaaatggcatt
    Mapping_target: JC8
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004127
      WBStrain00005395
      WBStrain00006188
      WBStrain00008016
      WBStrain00026968
      WBStrain00027061
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006763
    Transcript: JC8.10b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: JC8.10b.1:c.2708G>A
        HGVSp: CE29050:p.Trp903Ter
        cDNA_position: 2713
        CDS_position: 2708
        Protein_position: 903
        Exon_number: 10/12
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      JC8.10a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: JC8.10a.1:c.2690G>A
        HGVSp: CE28239:p.Trp897Ter
        cDNA_position: 2693
        CDS_position: 2690
        Protein_position: 897
        Exon_number: 9/11
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000517566
      WBInteraction000517568
  Genetics: Interpolated_map_position: IV 8.51097
    Mapping_data: In_2_point: 116
        122
        439
      In_multi_point (12)
      In_pos_neg_data: 832
        4678
        4685
        4687
  Description: Phenotype: WBPhenotype:0000002 Paper_evidence: WBPaper00001709
        Person_evidence: WBPerson261
        Curator_confirmed (2)
        Remark: severe kinker Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000017 Paper_evidence: WBPaper00004275
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark (2)
      WBPhenotype:0000019 Paper_evidence: WBPaper00001709
        Person_evidence: WBPerson261
        Curator_confirmed (2)
        Remark: slow pharyngeal pumping Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001709
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000020 Paper_evidence: WBPaper00001709
        Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001709
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000039 Paper_evidence: WBPaper00048926
        Curator_confirmed: WBPerson11689
        Remark: resistant to lifespan extension by serotonin antagonists (mianserin, etc) Paper_evidence: WBPaper00048926
            Curator_confirmed: WBPerson11689
        Affected_by: Molecule: WBMol:00003509 Paper_evidence: WBPaper00048926
              Curator_confirmed: WBPerson11689
      WBPhenotype:0000142 Paper_evidence: WBPaper00048926
        Curator_confirmed: WBPerson11689
        Remark: resistant to induction of stress resistance by serotonin antagonists (mianserin, etc) Paper_evidence: WBPaper00048926
            Curator_confirmed: WBPerson11689
        Affected_by: Molecule: WBMol:00003509 Paper_evidence: WBPaper00048926
              Curator_confirmed: WBPerson11689
      WBPhenotype:0000210 Paper_evidence: WBPaper00004275
        Curator_confirmed: WBPerson712
        Remark: Strong allele. unc-26 mutants have reduced numbers of enteric muscle contractions, indicative of GABAergic function. Paper_evidence: WBPaper00004275
            Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Paper_evidence: WBPaper00004275
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Strong allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; animals are small. Paper_evidence: WBPaper00004275
            Curator_confirmed: WBPerson712
      WBPhenotype:0000314 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000349 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000455 Paper_evidence: WBPaper00004275
        Curator_confirmed: WBPerson712
        Remark: Strong allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; animals move backwards with a jerky motion. Paper_evidence: WBPaper00004275
            Curator_confirmed: WBPerson712
      WBPhenotype:0000565 Paper_evidence: WBPaper00004275
        Curator_confirmed: WBPerson712
        Remark: Strong allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; frequently coil. Paper_evidence: WBPaper00004275
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
          WBPaper00001303
        Person_evidence: WBPerson261
        Curator_confirmed (2)
        Remark (2)
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001303
            Curator_confirmed: WBPerson712
      WBPhenotype:0000644 Paper_evidence: WBPaper00001709
        Curator_confirmed: WBPerson2021
      WBPhenotype:0000996 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: strong Exp Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001213 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: little movement Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0002056 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0002382 Paper_evidence: WBPaper00048427
        Curator_confirmed: WBPerson11689
        Phenotype_assay: Genotype: dvIs19 [Pgst-4::GFP::NLS] Paper_evidence: WBPaper00048427
              Curator_confirmed: WBPerson11689
    Phenotype_not_observed: WBPhenotype:0000436 Paper_evidence: WBPaper00028886
          WBPaper00040857
        Curator_confirmed (2)
        Remark (2)
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference (12)
  Method: Substitution_allele