WormBase Tree Display for Variation: WBVar00143148

WBVar00143148 Evidence: Person_evidence: WBPerson23830
  Name: Public_name: e362
    Other_name: CE31847:p.Gln6622Ter
      B0350.2f.1:c.19864C>T
    HGVSg: CHROMOSOME_IV:g.6002537C>T
  Sequence_details: SMap: S_parent: Sequence: B0350
    Flanking_sequences: gtctacgatgctgatacggaagaacaaaat aacagttagaagaactggaaactgttgaag
    Mapping_target: B0350
    Type_of_mutation: Substitution: c t Person_evidence: WBPerson23830
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004153
      WBStrain00006357
      WBStrain00007116
      WBStrain00027196
      WBStrain00033499
      WBStrain00033522
    Laboratory: CB
    Person: WBPerson23830
    Status: Live
  Affects: Gene: WBGene00006780
    Transcript: B0350.2f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0350.2f.1:c.19864C>T
        HGVSp: CE31847:p.Gln6622Ter
        cDNA_position: 19864
        CDS_position: 19864
        Protein_position: 6622
        Exon_number: 16/20
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000556072
  Genetics: Interpolated_map_position: IV 2.88918
    Mapping_data: In_2_point: 110
        825
      In_multi_point (29)
  Description: Phenotype: WBPhenotype:0000229 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000565 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: paralysed coiler Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000633 Paper_evidence: WBPaper00045955
        Curator_confirmed: WBPerson557
        Remark: Branch defects scored in PLM neuron. Paper_evidence: WBPaper00045955
            Curator_confirmed: WBPerson557
        Penetrance: Incomplete: Paper_evidence: WBPaper00045955
              Curator_confirmed: WBPerson557
      WBPhenotype:0000644 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000880 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: amphid, phasmid, PVP, PDE and other axons abnormal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001329 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: tends to curl Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001661 Paper_evidence: WBPaper00003760
        Curator_confirmed: WBPerson2021
        Remark: Mutants are defective in str-2 asymmetry: str-2 was expressed in either 0, 1, or 2 AWC cells in unc-44 mutants Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00003760
                Curator_confirmed: WBPerson2021
      WBPhenotype:0002521 Paper_evidence: WBPaper00049389
        Curator_confirmed: WBPerson30255
        EQ_annotations: GO_term: GO:0005921 PATO:0000470 Paper_evidence: WBPaper00049389
                Curator_confirmed: WBPerson30255
      WBPhenotype:0002535 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weak FITC uptake Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000436 Paper_evidence: WBPaper00040857
        Curator_confirmed: WBPerson712
        Remark: Mutants for unc-44 gene encoding a C. elegans homolog of ankyrin G (OTSUKA et al. 1995) showed normal localization ofSNB-1::VENUS in RIA. Paper_evidence: WBPaper00040857
            Curator_confirmed: WBPerson712
      WBPhenotype:0000679 Paper_evidence: WBPaper00028448
        Curator_confirmed: WBPerson712
        Remark: PKD-2::GFP localization is not different from wild type. Paper_evidence: WBPaper00028448
            Curator_confirmed: WBPerson712
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 and gcy-7 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6, otIs3 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00040857
    WBPaper00028448
    WBPaper00032446
    WBPaper00000031
    WBPaper00006052
    WBPaper00022718
    WBPaper00003760
    WBPaper00016121
    WBPaper00045955
    WBPaper00049389
  Remark: alt_det = c to t mut_det = Q(6621)Ochre
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006780 Ochre_UAA
  Method: Substitution_allele