WormBase Tree Display for Variation: WBVar00275065

WBVar00275065 Evidence: Paper_evidence: WBPaper00024480
  Name: Public_name: vs19
    HGVSg: CHROMOSOME_II:g.6109478_6111040del
  Sequence_details: SMap: S_parent: Sequence: C29H12
    Flanking_sequences: gagttcaggtaatcatttttagtgataaat gattaatattatattcttgtttttttctag
    Mapping_target: C29H12
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026361
    Laboratory: LX
    Status: Live
  Affects: Gene: WBGene00016236
      WBGene00004346
    Transcript: C29H12.3a.2 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 5/6
        Exon_number: 6-7/7
      C29H12.3c.3 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 3/4
        Exon_number: 4-5/5
      C29H12.5.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 9-10/11
        Exon_number: 10-12/12
      C29H12.3b.2 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 4/5
        Exon_number: 5-6/6
      C29H12.3c.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 4/5
        Exon_number: 5-6/6
      C29H12.3a.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 6/7
        Exon_number: 7-8/8
      C29H12.3c.2 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 4/5
        Exon_number: 5-6/6
      C29H12.3b.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 5/6
        Exon_number: 6-7/7
    Interactor: WBInteraction000569525
      WBInteraction000569527
  Genetics: Interpolated_map_position: II -0.475258
    Mapping_data: In_multi_point: 4907
  Description: Phenotype: WBPhenotype:0000304 Paper_evidence: WBPaper00028963
        Curator_confirmed: WBPerson48
        Remark: Defect based on comparison with wild type of chemotaxis index to high concentrations of isoamyl alcohol. Responds as well as wild type to a one thousand-fold dilution. Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00028963
          Curator_confirmed: WBPerson48
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: undiluted isoamyl alcohol, ten-fold dilution, 100-fold dilution Paper_evidence: WBPaper00028963
              Curator_confirmed: WBPerson48
      WBPhenotype:0000412 Paper_evidence: WBPaper00028963
        Curator_confirmed: WBPerson48
        Remark: Defective with respect to response to high concentration based on comparison of time to respond versus wild type. Responds as well as wild type to low concentrations of octanol (5% or less). Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00028963
          Curator_confirmed: WBPerson48
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 100% octanol. Defect exacerbated in the presence of exogenous 5-HT. Food improves response. Exogenous dopamine substantially restores response to 100% octanol when animals are off food. Paper_evidence: WBPaper00028963
              Curator_confirmed: WBPerson48
      WBPhenotype:0000630 Paper_evidence: WBPaper00028963
        Curator_confirmed: WBPerson48
        Remark: based on a comparison of percent responding versus wild type Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00028963
          Curator_confirmed: WBPerson48
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: Exogenous dopamine substantially restores response to 10 mM quinine when animals are off food. Paper_evidence: WBPaper00028963
              Curator_confirmed: WBPerson48
      WBPhenotype:0000663 Paper_evidence: WBPaper00028963
        Curator_confirmed: WBPerson48
        Remark: based on a comparison of percent responding to 1M glycerol versus wild type Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00028963
          Curator_confirmed: WBPerson48
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
      WBPhenotype:0001049 Paper_evidence: WBPaper00048845
        Curator_confirmed: WBPerson3990
        Remark: reduced sensitivity in acidic pH avoidance Paper_evidence: WBPaper00048845
            Curator_confirmed: WBPerson3990
      WBPhenotype:0001207 Paper_evidence: WBPaper00028963
        Curator_confirmed: WBPerson48
        Remark: Presumed increase in G-protein signaling leading to an increase in stimulus-evoked calcium signaling; mutant defects in quinine and glycerol response can be rescued by expression of cameleleon, expected to bind calcium and thereby buffer excess calcium signaling in sensory neurons. Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
      WBPhenotype:0001436 Paper_evidence: WBPaper00028963
        Curator_confirmed: WBPerson48
        Remark: No abnormality in response when animals were assayed in the presence of food. Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: Response measured when animals were off food. Paper_evidence: WBPaper00028963
              Curator_confirmed: WBPerson48
      WBPhenotype:0001454 Paper_evidence: WBPaper00043948
        Curator_confirmed: WBPerson557
        Remark: Hypersensitive response to quinine. Paper_evidence: WBPaper00043948
            Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Worms grown on 1 mM quinine. Paper_evidence: WBPaper00043948
              Curator_confirmed: WBPerson557
      WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: Acute CO2 avoidance is reduced 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
    Phenotype_not_observed: WBPhenotype:0002535 Paper_evidence: WBPaper00028963
        Curator_confirmed: WBPerson48
        Remark: based on dye filling Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00028963
          Curator_confirmed: WBPerson48
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00028963
            Curator_confirmed: WBPerson48
  Reference: WBPaper00031936
    WBPaper00028963
    WBPaper00048845
    WBPaper00043948
  Remark: vs19 is a 1563 bp mutation
  Method: Deletion_allele