WormBase Tree Display for Variation: WBVar00144317

WBVar00144317 Evidence: Paper_evidence: WBPaper00005786
  Name: Public_name: e1805
    Other_name: F59C6.7a.1:c.655C>T
      F59C6.7b.1:c.394C>T
      CE11472:p.Gln132Ter
      CE31704:p.Gln219Ter
    HGVSg: CHROMOSOME_I:g.10507890G>A
  Sequence_details: SMap: S_parent: Sequence: F59C6
    Flanking_sequences: gaattttgatgagtttcagaagaatccactc aaagcgttctccaaagcaatacggatgcaat
    Mapping_target: F59C6
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00005786
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004474
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000492
    Transcript: F59C6.7b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F59C6.7b.1:c.394C>T
        HGVSp: CE11472:p.Gln132Ter
        cDNA_position: 394
        CDS_position: 394
        Protein_position: 132
        Exon_number: 4/6
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F59C6.7a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F59C6.7a.1:c.655C>T
        HGVSp: CE31704:p.Gln219Ter
        cDNA_position: 735
        CDS_position: 655
        Protein_position: 219
        Exon_number: 8/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000520976
  Genetics: Interpolated_map_position: I 5.05407
    Mapping_data (3)
  Description: Phenotype: WBPhenotype:0000013 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Defective in dauer formation. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000249 Paper_evidence: WBPaper00035071
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Mutants exhibited a significant decrease in avoidance to 0.1% SDS when compared to control animals. Paper_evidence: WBPaper00035071
            Curator_confirmed: WBPerson712
          Defective in osmotic avoidance. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003977 Paper_evidence: WBPaper00035071
              Curator_confirmed: WBPerson712
      WBPhenotype:0000263 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Severely shortened axonemes. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000505 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Occasional staining of ray sensilla. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0000615 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Segments of all cilia are absent. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0000679 Paper_evidence: WBPaper00028448
        Curator_confirmed: WBPerson712
        Remark: In a stark contrast to wild type, all IFT mutants examined abnormally accumulate PKD-2::GFP in the ciliary base and in the cilium for those mutants with ciliary axonemes. Paper_evidence: WBPaper00028448
            Curator_confirmed: WBPerson712
      WBPhenotype:0000816 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Ectopic assembly of ciliary structures and microtubules in many sensory neurons. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005759 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000843 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Mating efficiency 0; no detected matings. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00000932
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00000932
              Curator_confirmed: WBPerson712
      WBPhenotype:0001084 Paper_evidence: WBPaper00000932
          WBPaper00035071
        Curator_confirmed: WBPerson712
        Remark: Altered response to dilute NaCl gradient. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003571 Paper_evidence: WBPaper00035071
              Curator_confirmed: WBPerson712
      WBPhenotype:0001438 Paper_evidence: WBPaper00001786
        Curator_confirmed: WBPerson2021
        Remark: Defective in chemotaxis to volatile odorants including benzaldehyde, 2-butanone and isoamyl alcohol (Data not shown). Paper_evidence: WBPaper00001786
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00001786
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001530 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Occasional FITC staining of CEP. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0001535 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Occasional FITC staining of ADE and PDE. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0002535 Paper_evidence: WBPaper00002087
          WBPaper00000932
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: Defects in dye filling. Paper_evidence: WBPaper00002087
            Curator_confirmed: WBPerson48
          No FITC staining of any amphids or phasmids. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
          Dyf (no FITC uptake by amphids or phasmids). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002087
          Curator_confirmed: WBPerson48
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000315 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
      WBPhenotype:0000478 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
      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
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:0060340
    Models_disease_in_annotation: WBDOannot00000211
  Reference: WBPaper00000932
    WBPaper00035071
    WBPaper00028448
    WBPaper00029016
    WBPaper00006052
    WBPaper00002087
    WBPaper00001786
    WBPaper00017262
    WBPaper00016325
    WBPaper00064927
  Method: Substitution_allele