WormBase Tree Display for Variation: WBVar00095130

WBVar00095130 Evidence: Paper_evidence: WBPaper00004715
  Name: Public_name: p813
    Other_name: CE28361:p.Gln479Ter
      Y41G9A.1.1:c.1435C>T
    HGVSg: CHROMOSOME_X:g.2988002C>T
  Sequence_details: SMap: S_parent: Sequence: Y41G9A
    Flanking_sequences: gaccgctataatgcgcatgctcaagtcaac aaggcaacattgcgtacatgaacggcgatt
    Mapping_target: Y41G9A
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030797
    Laboratory: PR
    Status: Live
  Affects: Gene: WBGene00003885
    Transcript: Y41G9A.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y41G9A.1.1:c.1435C>T
        HGVSp: CE28361:p.Gln479Ter
        cDNA_position: 1450
        CDS_position: 1435
        Protein_position: 479
        Exon_number: 11/17
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000500417
      WBInteraction000502137
  Genetics: Interpolated_map_position: X -12.6622
    Mapping_data: In_2_point: 376
        377
        3384
      In_multi_point: 1209
        1210
        1211
        1212
      In_pos_neg_data: 3180
        5450
  Description: Phenotype: WBPhenotype:0000013 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000061 Paper_evidence: WBPaper00038169
        Curator_confirmed: WBPerson712
      WBPhenotype:0000238 Paper_evidence: WBPaper00035062
        Curator_confirmed: WBPerson2021
        Remark: Foraging behavior was reduced compared to control Paper_evidence: WBPaper00035062
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000249 Paper_evidence: WBPaper00000082
        Curator_confirmed: WBPerson712
        Remark: Animals did not avoid high concentrations of fructose of NaCl. Paper_evidence: WBPaper00000082
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00002899 Paper_evidence: WBPaper00000082
              Curator_confirmed: WBPerson712
            WBMol:00003571 Paper_evidence: WBPaper00000082
              Curator_confirmed: WBPerson712
      WBPhenotype:0000263 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: severely shortened axonemes Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000303 Paper_evidence: WBPaper00024944
        Curator_confirmed: WBPerson712
      WBPhenotype:0000304 Paper_evidence: WBPaper00035062
        Curator_confirmed: WBPerson2021
        Remark: Chemotaxis to isoamyl alcohol was reduced compared to control Paper_evidence: WBPaper00035062
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000310 Paper_evidence: WBPaper00035062
        Curator_confirmed: WBPerson2021
        Remark: The ASER neuron lacks ciliary projections in osm-5(p813) and osm-6(p811) IFT mutants Paper_evidence: WBPaper00035062
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000505 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: FITC occasionally stains ray sensilla. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0000615 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: Middle and distal segments of all cilia are absent. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0000649 Paper_evidence: WBPaper00003680
        Curator_confirmed: WBPerson712
        Remark: males are defective in vulva-location behavior Paper_evidence: WBPaper00003680
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: him-5 Paper_evidence: WBPaper00003680
              Curator_confirmed: WBPerson712
      WBPhenotype:0000663 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: fails to avoid 4M fructose or 4M NaCl Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000843 Paper_evidence: WBPaper00000932
          WBPaper00035062
        Curator_confirmed: WBPerson712
          WBPerson2021
        Remark: Mating efficiency 1; less than 1% of WT mating efficiency. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
          Male mating efficiency was reduced compared to control Paper_evidence: WBPaper00035062
            Curator_confirmed: WBPerson2021
        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:0000881 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: ectopic assembly of ciliary structures and microtubules in many sensory neurons Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001414 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: poor mating Person_evidence: WBPerson261
            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:0001462 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: poor chemotaxis to NaCl Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001530 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: FITC occasionally stains CEP. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0001535 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: FITC occasionally stains ADE or PDE. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
      WBPhenotype:0002053 Paper_evidence: WBPaper00055368
        Curator_confirmed: WBPerson466
        Remark: survive 10nM ivermectin Paper_evidence: WBPaper00055368
            Curator_confirmed: WBPerson466
        Affected_by: Molecule: WBMol:00002786 Paper_evidence: WBPaper00055368
              Curator_confirmed: WBPerson466
      WBPhenotype:0002115 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: males suicidal Person_evidence: WBPerson261
            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
          FITC does not stain amphids or phasmids. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
          fails to take up FITC Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0004004 Paper_evidence: WBPaper00003680
        Curator_confirmed: WBPerson712
        Remark: males are response defective Paper_evidence: WBPaper00003680
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: him-5 Paper_evidence: WBPaper00003680
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000067 Paper_evidence: WBPaper00003582
        Curator_confirmed: WBPerson712
        Remark: mutants showed a normal feeding inhibition response when exposed to either cadmium or captan Paper_evidence: WBPaper00003582
            Curator_confirmed: WBPerson712
      WBPhenotype:0000315 Paper_evidence: WBPaper00000932
          WBPaper00000082
        Curator_confirmed: WBPerson712
        Remark: Animals showed normal sensitivity to light head and tail tapping with a human eyelash. Paper_evidence: WBPaper00000082
            Curator_confirmed: WBPerson712
      WBPhenotype:0000478 Paper_evidence: WBPaper00000932
          WBPaper00000082
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Animals were able to track isothermally. Paper_evidence: WBPaper00000082
            Curator_confirmed: WBPerson712
          normal thermotaxis Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000082
        Curator_confirmed: WBPerson712
        Remark: Animals moved normally. Paper_evidence: WBPaper00000082
            Curator_confirmed: WBPerson712
      WBPhenotype:0001015 Paper_evidence: WBPaper00000082
        Curator_confirmed: WBPerson712
        Remark: Animals did not display any major developmental defects compared to N2 animals. Paper_evidence: WBPaper00000082
            Curator_confirmed: WBPerson712
      WBPhenotype:0001741 Paper_evidence: WBPaper00032000
        Curator_confirmed: WBPerson712
        Remark: Males displayed no spontaneous spicule-muscle seizures in the presence or absence of food. Paper_evidence: WBPaper00032000
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005826 PATO:0000460 Paper_evidence: WBPaper00032000
                Curator_confirmed: WBPerson712
            WBbt:0005312 PATO:0000460 Paper_evidence: WBPaper00032000
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00032000
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: To effect food deprivation animals were moved to plates with no food (E. coli) or fed inedible bacteria (aztreonam-treated E. coli). Paper_evidence: WBPaper00032000
              Curator_confirmed: WBPerson712
      WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: Mutants respond normally to CO2 Paper_evidence: WBPaper00031936
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00031936
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 10% CO2 Paper_evidence: WBPaper00031936
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00038169
    WBPaper00029013
    WBPaper00000932
    WBPaper00031936
    WBPaper00029016
    WBPaper00002087
    WBPaper00001786
    WBPaper00024049
    WBPaper00011136
    WBPaper00032000
    WBPaper00035062
    WBPaper00003680
    WBPaper00000082
    WBPaper00024944
    WBPaper00016325
    WBPaper00003582
    WBPaper00055368
    WBPaper00061175
    WBPaper00064927
    WBPaper00065813
  Remark: Created by WBPerson51134 from the NN_VFP_triage_pipeline
    Variation stub/paper connection generated from the May 2021 NN VFP dataset.
  Method: Substitution_allele