WormBase Tree Display for Variation: WBVar00142960

WBVar00142960 Evidence: Person_evidence: WBPerson21026
  Name: Public_name: e101
    Other_name: R12H7.1a.2:c.1039-1G>A
      R12H7.1a.1:c.1039-1G>A
      R12H7.1b.1:c.847-1G>A
    HGVSg: CHROMOSOME_X:g.13215704G>A
  Sequence_details: SMap: S_parent: Sequence: R12H7
    Flanking_sequences: ttacactgaccgaaattaaaccccatttca gatggtgttttcctacttcgtatggttgca
    Mapping_target: R12H7
    Type_of_mutation: Substitution: g a Person_evidence: WBPerson21026
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (19)
    Laboratory: CB
      OJ
    Status: Live
  Affects: Gene: WBGene00006749
    Transcript: R12H7.1a.2 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: R12H7.1a.2:c.1039-1G>A
        Intron_number: 9/10
      R12H7.1a.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: R12H7.1a.1:c.1039-1G>A
        Intron_number: 8/9
      R12H7.1b.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: R12H7.1b.1:c.847-1G>A
        Intron_number: 5/5
    Interactor: WBInteraction000052321
      WBInteraction000052323
      WBInteraction000052325
      WBInteraction000518927
      WBInteraction000518931
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: X 10.3258
    Mapping_data: In_2_point (11)
      In_multi_point: 426
        442
        445
        617
        620
        735
        751
        1325
        1326
        1352
        1436
        1437
        1438
        1562
        1563
        1564
        1738
        1742
        1770
        1774
        1776
        2060
        2062
        2063
        2064
        2168
        2171
        2292
        2411
        3080
        3085
        3086
        3089
        3091
        3093
      In_pos_neg_data (19)
  Description: Phenotype (25)
    Phenotype_not_observed: WBPhenotype:0001611 Paper_evidence: WBPaper00000958
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit normal halothane sensitivity. Paper_evidence: WBPaper00000958
            Curator_confirmed: WBPerson712
      WBPhenotype:0001612 Paper_evidence: WBPaper00002358
        Curator_confirmed: WBPerson712
        Remark: Animals have a similar EC50 (1020 30mM) compared to N2 (1050 25 mM). Paper_evidence: WBPaper00002358
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: 50 animals were scored for mobility for 10 sec. at each concentration of ethanol after 5 min exposure. EC50's (concentration at which 50% of the animals were immobile for >10 sec) were determined from a dose response curve over a minimum of 12 concentrations (mM). Immobility was used an as endpoint. Upon removal from ethanol, immobility was reversible within 10-15 min. Treatment and scoring of anesthetic responses are described in Sedensky and Meneely, 1987; Morgan et al. , 1990; Morgan and Sedensky, 1994. Paper_evidence: WBPaper00002358
              Curator_confirmed: WBPerson712
          Temperature: 22-24C Paper_evidence: WBPaper00002358
              Curator_confirmed: WBPerson712
  Reference (9)
  Method: Substitution_allele