WormBase Tree Display for Variation: WBVar00266529

WBVar00266529 Evidence: Paper_evidence: WBPaper00035070
  Name: Public_name: u75
    Other_name: T01E8.4.1:c.352C>T
      CE02308:p.Gln118Ter
    HGVSg: CHROMOSOME_II:g.10239289G>A
  Sequence_details: SMap: S_parent: Sequence: T01E8
    Flanking_sequences: agtgtgatgcttttcgagaataataataag aattctgtctatctggatccagagatcgaac
    Mapping_target: T01E8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00035070
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00035032
    Laboratory: TU
    Status: Live
  Affects: Gene: WBGene00003177
    Transcript: T01E8.4.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T01E8.4.1:c.352C>T
        HGVSp: CE02308:p.Gln118Ter
        cDNA_position: 359
        CDS_position: 352
        Protein_position: 118
        Exon_number: 3/8
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000517351
      WBInteraction000517355
      WBInteraction000517361
      WBInteraction000578996
  Genetics: Interpolated_map_position: II 2.31522
  Description: Phenotype: WBPhenotype:0000315 Paper_evidence: WBPaper00035070
          WBPaper00001125
        Curator_confirmed: WBPerson712
        Remark: This mutation confers partial touch insensitivity. some animals respond to many touches while others fail to respond after a few touches. The severity of the phenotype increases at higher temperatures. Paper_evidence: WBPaper00035070
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035070
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00035070
              Curator_confirmed: WBPerson712
            25 Paper_evidence: WBPaper00001125
              Curator_confirmed: WBPerson712
      WBPhenotype:0000456 Paper_evidence: WBPaper00002482
        Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00002482
              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:0000905 Paper_evidence: WBPaper00035070
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited distorted cell-body morphology; somas were generally larger and misshapen as well as accumulated more jsIs821[RAB-3::GFP] reporter product. This phenotype is stronger at higher temperatures. Paper_evidence: WBPaper00035070
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035070
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005237 PATO:0000460 Paper_evidence: WBPaper00035070
                Curator_confirmed: WBPerson712
      WBPhenotype:0000944 Paper_evidence: WBPaper00059745
        Curator_confirmed: WBPerson24243
        Remark: Shortening ALM and PLM neurites Paper_evidence: WBPaper00059745
            Curator_confirmed: WBPerson24243
        EQ_annotations: Anatomy_term: WBbt:0005406 PATO:0000460 Paper_evidence: WBPaper00059745
                Curator_confirmed: WBPerson24243
            WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00059745
                Curator_confirmed: WBPerson24243
          GO_term: GO:0043005 PATO:0002364 Paper_evidence: WBPaper00059745
                Curator_confirmed: WBPerson24243
      WBPhenotype:0001933 Paper_evidence: WBPaper00035070
        Curator_confirmed: WBPerson712
        Remark: The pattern of jsIs821[RAB-3::GFP] localization was disrupted; often reduced or abolished. This phenotype is stronger at higher temperatures. Localization of non-synaptic components appear to be normal. The distribution of a non-synaptic component, mechanosensory channel subunit, appears to be normal. Levels of MEC-18, that is diffusely expressed in the cytoplasm were unchanged in these mutants compared to control animals. The density of TRN microtubules were also unaffected compared to control animals. Paper_evidence: WBPaper00035070
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035070
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00035070
              Curator_confirmed: WBPerson712
  Reference: WBPaper00001125
    WBPaper00035070
    WBPaper00002482
    WBPaper00045955
    WBPaper00059745
  Method: Substitution_allele