WormBase Tree Display for Variation: WBVar00088130

WBVar00088130 Evidence: Paper_evidence: WBPaper00035070
  Name: Public_name: js414
    Other_name: CE02308:p.Trp185Ter
      T01E8.4.1:c.554delinsA
    HGVSg: CHROMOSOME_II:g.10239087delinsT
  Sequence_details: SMap: S_parent: Sequence: T01E8
    Flanking_sequences: acaacatcgtgggattcaactgtaaaaagtt cacatcacagataatggagctcttcaaaatc
    Mapping_target: T01E8
    Type_of_mutation: Substitution: gg ar Paper_evidence: WBPaper00035070
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: NM
    Status: Live
  Affects: Gene: WBGene00003177
    Transcript: T01E8.4.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T01E8.4.1:c.554delinsA
        HGVSp: CE02308:p.Trp185Ter
        cDNA_position: 561-562
        CDS_position: 554-555
        Protein_position: 185
        Exon_number: 3/8
        Codon_change: tGG/tAG
        Amino_acid_change: W/*
    Interactor: WBInteraction000500068
      WBInteraction000500069
      WBInteraction000500070
      WBInteraction000500071
      WBInteraction000500072
      WBInteraction000517354
      WBInteraction000517358
      WBInteraction000517360
  Genetics: Interpolated_map_position: II 2.31436
  Description: Phenotype: WBPhenotype:0000315 Paper_evidence: WBPaper00035070
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit variable 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
        EQ_annotations: Anatomy_term: WBbt:0005237 PATO:0000460 Paper_evidence: WBPaper00035070
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00035070
              Curator_confirmed: WBPerson712
      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
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00035070
              Curator_confirmed: WBPerson712
      WBPhenotype:0001676 Paper_evidence: WBPaper00035070
        Curator_confirmed: WBPerson712
        Remark: Animals have defective touch receptor neuron chemical synapses. 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: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
        EQ_annotations: Anatomy_term: WBbt:0005237 PATO:0000460 Paper_evidence: WBPaper00035070
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00035070
              Curator_confirmed: WBPerson712
  Reference: WBPaper00035070
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00003177 Amber_UAG_or_Opal_UGA
  Method: Substitution_allele