WormBase Tree Display for Variation: WBVar00143747

WBVar00143747 Evidence: Paper_evidence: WBPaper00029148
  Name: Public_name: e1107
    Other_name: e1107am
      CE16260:p.Trp126Ter
      LLC1.1a.1:c.377G>A
    HGVSg: CHROMOSOME_IV:g.14442280C>T
  Sequence_details: SMap: S_parent: Sequence: LLC1
    Flanking_sequences: cgtacgctggaatatttagattcagatttt gagatttggaaaatgggtcgaagtggttat
    Mapping_target: LLC1
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002548
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004393
      WBStrain00004399
      WBStrain00004498
      WBStrain00004508
      WBStrain00004523
      WBStrain00004529
      WBStrain00004560
      WBStrain00004665
      WBStrain00030550
      WBStrain00030551
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006606
    Transcript: LLC1.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: LLC1.1a.1:c.377G>A
        HGVSp: CE16260:p.Trp126Ter
        cDNA_position: 411
        CDS_position: 377
        Protein_position: 126
        Exon_number: 3/10
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000052142
      WBInteraction000517253
      WBInteraction000518359
      WBInteraction000518399
      WBInteraction000518400
      WBInteraction000519033
      WBInteraction000519036
      WBInteraction000519042
      WBInteraction000571518
  Genetics: Interpolated_map_position: IV 12.0984
    Mapping_data: In_2_point: 318
      In_multi_point: 130
        131
        762
        1619
        1622
  Description: Phenotype: WBPhenotype:0000038 Paper_evidence: WBPaper00000178
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000178
          Curator_confirmed: WBPerson2021
        Maternal
      WBPhenotype:0000073 Paper_evidence: WBPaper00000178
        Curator_confirmed: WBPerson2021
        Remark: Pseudomales have vestigial bursa structures Paper_evidence: WBPaper00000178
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000178
          Curator_confirmed: WBPerson2021
        Maternal
      WBPhenotype:0001025 Paper_evidence: WBPaper00000178
        Curator_confirmed: WBPerson2021
        Remark: Pseudomales have extra ventral nerve cord processes. Pseudomales also have a set of diagonal muscles (that are normally present only in adult males) and vestigial vulval structures. Paper_evidence: WBPaper00000178
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000178
          Curator_confirmed: WBPerson2021
        Maternal
      WBPhenotype:0001277 Paper_evidence: WBPaper00000178
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: XX animals are phenotypically male Paper_evidence: WBPaper00000178
            Curator_confirmed: WBPerson2021
          XX progeny of homozygous parents are abnormal sterile males or intersexes, occasionally self-fertile, especially at 15C (15C brood 1% of wildtype); XO phenotype wildtype. Either maternal or zygotic expression of tra-3(+) sufficient for normal XX hermaphrodite development. Easy to score (ES3) through progeny testing. Mating never successful (ME0) for XX transformed males. Mating always successful (ME3) true XO males. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000178
          Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001355 Paper_evidence: WBPaper00000178
        Curator_confirmed: WBPerson2021
        Remark: The gonads of XX pseudomales are large and have two reflexed arms. Paper_evidence: WBPaper00000178
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000178
          Curator_confirmed: WBPerson2021
        Maternal
      WBPhenotype:0001507 Paper_evidence: WBPaper00049138
        Person_evidence: WBPerson18666
        Curator_confirmed: WBPerson712
        Remark: mutants are tolerant to Cry6Aa protein Paper_evidence: WBPaper00049138
            Person_evidence: WBPerson18666
            Curator_confirmed: WBPerson712
      WBPhenotype:0002606 Paper_evidence: WBPaper00041673
        Curator_confirmed: WBPerson2987
        Remark: "Likewise, loss of crt-1, cnx-1, itr-1, clp-1, tra-3, asp-3, or asp-4 partially suppressed HBx-induced cell killing (from 50% to 12-32% PLM death; Fig. 2A), indicating that HBx induces cell death in part through the necrotic pathway." Paper_evidence: WBPaper00041673
            Curator_confirmed: WBPerson2987
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00041673
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: smIs98 [Pmec-3::GFP; Pmec-7::HBx] Paper_evidence: WBPaper00041673
              Curator_confirmed: WBPerson2987
  Reference (14)
  Method: Substitution_allele