WormBase Tree Display for Variation: WBVar00088574

WBVar00088574 Evidence: Paper_evidence: WBPaper00003977
  Name: Public_name: m86
    Other_name: CE02205:p.Arg88Ter
      F33H1.1e.1:c.262C>T
      CE43609:p.Arg111Ter
      F33H1.1c.1:c.214C>T
      F33H1.1a.1:c.688C>T
      F33H1.1b.1:c.763C>T
      CE17763:p.Arg230Ter
      CE01567:p.Arg72Ter
      F33H1.1d.1:c.331C>T
      CE28019:p.Arg255Ter
    HGVSg: CHROMOSOME_II:g.10160814G>A
  Sequence_details: SMap: S_parent: Sequence: F33H1
    Flanking_sequences: gcagactcgatcaacttgccgaacaatcaa gagcttcccccgcaacggtatgaataaaac
    Mapping_target: F33H1
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003977
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (34)
    Laboratory: DR
      JT
      NFB
    Status: Live
  Affects: Gene: WBGene00000914
    Transcript: F33H1.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F33H1.1c.1:c.214C>T
        HGVSp: CE01567:p.Arg72Ter
        cDNA_position: 380
        CDS_position: 214
        Protein_position: 72
        Exon_number: 4/9
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F33H1.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F33H1.1a.1:c.688C>T
        HGVSp: CE17763:p.Arg230Ter
        cDNA_position: 713
        CDS_position: 688
        Protein_position: 230
        Exon_number: 7/13
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F33H1.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F33H1.1b.1:c.763C>T
        HGVSp: CE28019:p.Arg255Ter
        cDNA_position: 787
        CDS_position: 763
        Protein_position: 255
        Exon_number: 8/14
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F33H1.1e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F33H1.1e.1:c.262C>T
        HGVSp: CE02205:p.Arg88Ter
        cDNA_position: 262
        CDS_position: 262
        Protein_position: 88
        Exon_number: 3/8
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F33H1.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F33H1.1d.1:c.331C>T
        HGVSp: CE43609:p.Arg111Ter
        cDNA_position: 405
        CDS_position: 331
        Protein_position: 111
        Exon_number: 5/11
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor (54)
  Genetics: Interpolated_map_position: II 2.13278
    Mapping_data: In_2_point: 444
        769
        3381
      In_multi_point: 338
        961
        1558
      In_pos_neg_data: 4206
        4207
        4208
        4209
        4210
        4211
        4537
  Description: Phenotype (19)
    Phenotype_not_observed: WBPhenotype:0000039 Paper_evidence: WBPaper00002149
        Curator_confirmed: WBPerson712
        Remark: Adult lifespan was not increased. Animals were allowed to progress through development at 15 degrees C. then shifted to 25.5 degrees C. to determine lifespan. Paper_evidence: WBPaper00002149
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were raised at 15C and placed at 25.5C as L4 larvae or young adults for the life span assay. Paper_evidence: WBPaper00002149
              Curator_confirmed: WBPerson712
          Temperature: 25.5C Paper_evidence: WBPaper00002149
              Curator_confirmed: WBPerson712
      WBPhenotype:0000315 Paper_evidence: WBPaper00002149
        Curator_confirmed: WBPerson712
      WBPhenotype:0000436 Paper_evidence: WBPaper00035062
        Curator_confirmed: WBPerson2021
        Remark: In daf-19(m86) mutants, HYLS-1 localization was unaffected Paper_evidence: WBPaper00035062
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000478 Paper_evidence: WBPaper00002149
        Curator_confirmed: WBPerson712
      WBPhenotype:0000882 Paper_evidence: WBPaper00003977
        Curator_confirmed: WBPerson641
        Remark: Table 2, Figure1; concerns the microvilli at the dendritic tips of the thermosensory AFD neurons Paper_evidence: WBPaper00003977
            Curator_confirmed: WBPerson641
        EQ_annotations: Anatomy_term: WBbt:0005662 PATO:0000460 Paper_evidence: WBPaper00003977
                Curator_confirmed: WBPerson641
          GO_term: GO:0005902 PATO:0000460 Paper_evidence: WBPaper00003977
                Curator_confirmed: WBPerson641
            GO:0030425 PATO:0000460 Paper_evidence: WBPaper00003977
                Curator_confirmed: WBPerson641
      WBPhenotype:0001530 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: CEP does not stain with FITC at permissive or non-permissive temperatures. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005107 PATO:0000460 Paper_evidence: WBPaper00000932
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 15C, 25C Paper_evidence: WBPaper00000932
              Curator_confirmed: WBPerson712
      WBPhenotype:0001535 Paper_evidence: WBPaper00002149
        Curator_confirmed: WBPerson712
        Remark: No FITC staining of ADE or PDE. Paper_evidence: WBPaper00002149
            Curator_confirmed: WBPerson712
      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
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference (24)
  Remark
  Method: Substitution_allele