WormBase Tree Display for Variation: WBVar00275094

WBVar00275094 Name: Public_name: vs106
    Other_name: T14E8.3a.1:c.-63_185del
    HGVSg: CHROMOSOME_X:g.6569334_6569581del
  Sequence_details: SMap: S_parent: Sequence: T14E8
    Flanking_sequences: tttccgatacttccgtattccttctactac cttagcagtttctgattttatggtgagtta
    Mapping_target: T14E8
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (12)
    Laboratory: LX
      CF
      IV
    Status: Live
  Affects: Gene: WBGene00020506
    Transcript: T14E8.3a.1 VEP_consequence: start_lost,5_prime_UTR_variant
        VEP_impact: HIGH
        HGVSc: T14E8.3a.1:c.-63_185del
        cDNA_position: 144-391
        CDS_position: ?-185
        Protein_position: ?-62
        Exon_number: 1-2/14
      T14E8.3d.1 VEP_consequence: coding_sequence_variant,5_prime_UTR_variant
        VEP_impact: MODIFIER
        cDNA_position: ?-140
        CDS_position: ?-140
        Protein_position: ?-47
        Exon_number: 1/5
      T14E8.3c.1 VEP_consequence: coding_sequence_variant,5_prime_UTR_variant
        VEP_impact: MODIFIER
        cDNA_position: ?-157
        CDS_position: ?-140
        Protein_position: ?-47
        Exon_number: 1-2/13
      T14E8.3b.1 VEP_consequence: coding_sequence_variant,5_prime_UTR_variant
        VEP_impact: MODIFIER
        cDNA_position: ?-189
        CDS_position: ?-185
        Protein_position: ?-62
        Exon_number: 1-2/14
    Interactor: WBInteraction000518033
      WBInteraction000518035
      WBInteraction000518042
      WBInteraction000518043
      WBInteraction000518551
      WBInteraction000521890
      WBInteraction000521891
      WBInteraction000521892
      WBInteraction000521893
  Genetics: Interpolated_map_position: X -2.77887
  Description: Phenotype (26)
    Phenotype_not_observed: WBPhenotype:0000631 Paper_evidence: WBPaper00039822
        Curator_confirmed: WBPerson712
        Remark: Only 6.7% of dop-3 animals become paralyzed after 40 min of exposure to 10 mM DA, whereas 35% of wild type worms are paralyzed. Paper_evidence: WBPaper00039822
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004583 Paper_evidence: WBPaper00039822
              Curator_confirmed: WBPerson712
      WBPhenotype:0001006 Paper_evidence: WBPaper00044757
        Curator_confirmed: WBPerson2987
        Remark: Figure S2C Paper_evidence: WBPaper00044757
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001101 Paper_evidence: WBPaper00038382
        Curator_confirmed: WBPerson712
        Remark: No effects on clozapine-induced egg laying were observed. Paper_evidence: WBPaper00038382
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003634 Paper_evidence: WBPaper00038382
              Curator_confirmed: WBPerson712
      WBPhenotype:0001817 Paper_evidence: WBPaper00032335
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited enhanced-gustatory plasticity, i.e. strong avoidance to NaCl after starvation, similar to that observed for wild type. Paper_evidence: WBPaper00032335
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003571 Paper_evidence: WBPaper00032335
              Curator_confirmed: WBPerson712
      WBPhenotype:0002114 Paper_evidence: WBPaper00038270
        Curator_confirmed: WBPerson712
        Remark: Wild-type animals and dop-3 (vs106) mutants swam vigorously for more than 30 min when placed in water. Paper_evidence: WBPaper00038270
            Curator_confirmed: WBPerson712
          mutants were not hypersensitive to aldicarb treatment Paper_evidence: WBPaper00038270
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00038270
            Curator_confirmed: WBPerson712
  Disease_info: Modifies_disease: DOID:680
    Modifies_disease_in_annotation: WBDOannot00000765
      WBDOannot00000766
      WBDOannot00000767
  Reference (13)
  Remark: This deletion removes 86 bp of the promoter, the first transmembrane domain and the entire first intracellular loop and most of the second transmembrane domain. Paper_evidence: WBPaper00024390
  Method: Deletion_allele