WormBase Tree Display for Variation: WBVar00143004

WBVar00143004 Evidence: Person_evidence: WBPerson261
      WBPerson2629
  Name: Public_name: e164
    Other_name: CE11066:p.Gln189Ter
      F54D8.1.1:c.565C>T
    HGVSg: CHROMOSOME_III:g.5107949C>T
  Sequence_details: SMap: S_parent: Sequence: F54D8
    Flanking_sequences: gacggagaagatgctgatgatgccaaggct agactcaacaatacgatggatgcttcactt
    Mapping_target: F54D8
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (201)
    Laboratory: CB
      UP
    Status: Live
  Affects: Gene: WBGene00001076
    Transcript: F54D8.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F54D8.1.1:c.565C>T
        HGVSp: CE11066:p.Gln189Ter
        cDNA_position: 568
        CDS_position: 565
        Protein_position: 189
        Exon_number: 3/4
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000502314
      WBInteraction000537325
  Genetics: Interpolated_map_position: III -2.13511
    Mapping_data: In_2_point (29)
      In_multi_point (150)
      In_pos_neg_data: 1578
        1582
        1586
        1596
        1616
        3244
  Description: Phenotype: WBPhenotype:0000035 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000572 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: low penetrance defects in outgrowth of posterior canal cell processes Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00000031
          WBPaper00032031
          WBPaper00005747
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
          WBPerson2987
        Remark: Animals are morphologically similar to dpy-9. Paper_evidence: WBPaper00032031
            Curator_confirmed: WBPerson712
          medium dumpy, spindle-shaped adult; old adults sometimes less dumpy; strong dumpy L1 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Authors report "medium dpy" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: Pnlp-29::GFP Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
            kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000961 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001412 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "severe disruption with branching" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001517 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "severe disruption" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00006477
        Curator_confirmed: WBPerson712
        Remark: 98.9% animals hatch (n=284). Paper_evidence: WBPaper00006477
            Curator_confirmed: WBPerson712
      WBPhenotype:0000535 Paper_evidence: WBPaper00006477
        Curator_confirmed: WBPerson712
        Remark: 100% hatched animals have normal body morphology. Paper_evidence: WBPaper00006477
            Curator_confirmed: WBPerson712
      WBPhenotype:0000717 Paper_evidence: WBPaper00032031
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited levels of pnlp-29::GFP similar to wild-type controls under normal culture conditions. Paper_evidence: WBPaper00032031
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Pnlp-29::GFP Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
      WBPhenotype:0000876 Paper_evidence: WBPaper00032031
        Curator_confirmed: WBPerson712
        Remark: Animals are no more resistant to high salt than wild-type worms. Paper_evidence: WBPaper00032031
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Pnlp-29::GFP Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
      WBPhenotype:0001014 Paper_evidence: WBPaper00032031
        Curator_confirmed: WBPerson712
        Remark: Animals were as susceptible to D. coniospora infection as wild type worms. Paper_evidence: WBPaper00032031
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Infections with a freshly harvested solution of D. coniospora spores were done as described [65]; worms were analyzed after 24 h at 25C. Worms were pricked in the tail region using a microinjection needle under a dissecting microscope and analyzed 6 h later for GFP induction or 2 hours later for qRT-PCR. Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
          Genotype: Pnlp-29::GFP Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference (20)
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele