WormBase Tree Display for Variation: WBVar00088443

WBVar00088443 Evidence: Paper_evidence: WBPaper00024676
  Name: Public_name: ky388
    Other_name: F13B10.1d.1:c.-1668C>T
      F13B10.1a.2:c.85C>T
      F13B10.1a.1:c.85C>T
      CE50887:p.Arg29Ter
      F13B10.1g.1:c.85C>T
      CE20681:p.Arg29Ter
    HGVSg: CHROMOSOME_III:g.3890926G>A
  Sequence_details: SMap: S_parent: Sequence: F13B10
    Flanking_sequences: tgcttcagaagtccccgcagtccacttgga ggtgagttttttgctgaaaatttgggacat
    Mapping_target: F13B10
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00024676
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005265
    Laboratory: CX
    Status: Live
  Affects: Gene: WBGene00006575
    Transcript: F13B10.1a.1 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: F13B10.1a.1:c.85C>T
        HGVSp: CE20681:p.Arg29Ter
        cDNA_position: 411
        CDS_position: 85
        Protein_position: 29
        Exon_number: 4/14
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F13B10.1g.1 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: F13B10.1g.1:c.85C>T
        HGVSp: CE50887:p.Arg29Ter
        cDNA_position: 85
        CDS_position: 85
        Protein_position: 29
        Exon_number: 1/10
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F13B10.1d.1 VEP_consequence: splice_region_variant,5_prime_UTR_variant
        VEP_impact: LOW
        HGVSc: F13B10.1d.1:c.-1668C>T
        cDNA_position: 394
        Exon_number: 3/14
      F13B10.1a.2 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: F13B10.1a.2:c.85C>T
        HGVSp: CE20681:p.Arg29Ter
        cDNA_position: 197
        CDS_position: 85
        Protein_position: 29
        Exon_number: 3/13
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000501319
      WBInteraction000518619
      WBInteraction000518620
  Genetics: Interpolated_map_position: III -4.2437
    Mapping_data: In_pos_neg_data: 10953
        10954
        10955
  Description: Phenotype: WBPhenotype:0001661 Paper_evidence: WBPaper00003760
          WBPaper00039901
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: 2 AWC on Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
          The tir-1(ky388) temperature-sensitive mutant exhibits an incompletely penetrant 2AWC-ON phenotype (34% 2AWC-ON) at 15C. Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00003760
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00003760
                  WBPaper00039901
                Curator_confirmed: WBPerson2021
                  WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00039901
              Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: [str-2p::GFP] Paper_evidence: WBPaper00039901
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000006 Paper_evidence: WBPaper00003760
        Curator_confirmed: WBPerson2021
        Remark: superficially normal egg laying Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003760
          Curator_confirmed: WBPerson2021
      WBPhenotype:0000643 Paper_evidence: WBPaper00003760
        Curator_confirmed: WBPerson2021
        Remark: superficially normal movement Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003760
          Curator_confirmed: WBPerson2021
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00039901
    WBPaper00006052
    WBPaper00003760
    WBPaper00016621
    WBPaper00019278
    WBPaper00024131
  Method: Substitution_allele