WormBase Tree Display for Variation: WBVar00143150

WBVar00143150 Evidence: Paper_evidence: WBPaper00004203
  Name: Public_name: e364
    Other_name: e364am
      CE20261:p.Trp92Ter
      Y47D3B.10.1:c.275G>A
    HGVSg: CHROMOSOME_III:g.11376127C>T
  Sequence_details: SMap: S_parent: Sequence: Y47D3B
    Flanking_sequences: ataaccccacaaatcttcagatctttgact gaaggagatcgagtcgaaaatgaacgcaaa
    Mapping_target: Y47D3B
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00004203
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (196)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00001077
    Transcript: Y47D3B.10.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y47D3B.10.1:c.275G>A
        HGVSp: CE20261:p.Trp92Ter
        cDNA_position: 276
        CDS_position: 275
        Protein_position: 92
        Exon_number: 3/9
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000052376
      WBInteraction000537326
      WBInteraction000576800
  Genetics: Interpolated_map_position: III 8.86179
    Mapping_data: In_2_point (46)
      In_multi_point (90)
      In_pos_neg_data: 1600
        2153
  Description: Phenotype: WBPhenotype:0000070 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000199 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: The temperature sensitive period for the Ram defect was mid-to late L4 coincident with tail retraction. Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
            WBbt:0005741 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000073 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0000505 Paper_evidence: WBPaper00001328
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Homozygous Ram. Males are not Ram at 16C. Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
          Males have abnormal lumpy rays (Ram) at 25C. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00001328
              Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00000031
          WBPaper00001328
          WBPaper00005747
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
          WBPerson2987
        Remark: Medium dumpy. Easy to score (ES3) in adult; difficult to score (ES2) in larvae. ME2. Males have abnormal lumpy rays (Ram) at 25C Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Authors report "medium dpy" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
            kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000961 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001412 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "abnormal branched ala" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001517 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "abnormal branched annuli (lateral hypodermis)" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001678 Paper_evidence: WBPaper00003994
        Curator_confirmed: WBPerson557
        Remark: There was a significant reduction in the hydroxyproline content of cuticle collagen from dpy-18 (e364) animals compared with wild-type cuticle extracts. Paper_evidence: WBPaper00003994
            Curator_confirmed: WBPerson557
    Phenotype_not_observed (5)
  Reference (22)
  Method: Substitution_allele