WormBase Tree Display for Variation: WBVar00143019

WBVar00143019 Evidence: Paper_evidence: WBPaper00005152
      WBPaper00005325
  Name: Public_name: e185
    Other_name: CE54061:p.Cys185Tyr
      F48E8.1a.1:c.554G>A
      F48E8.1c.1:c.554G>A
      CE01953:p.Cys185Tyr
      F48E8.1b.1:c.554G>A
      CE29046:p.Cys185Tyr
    HGVSg: CHROMOSOME_III:g.5476405G>A
  Sequence_details: SMap: S_parent: Sequence: F48E8
    Flanking_sequences: ttgtctgggcaaagacgaatctcgtcggat cggcttctcccgttgccgtgacgttcaggg
    Mapping_target: F48E8
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000255
      WBStrain00004120
      WBStrain00004363
      WBStrain00004381
      WBStrain00004391
      WBStrain00006353
      WBStrain00007327
      WBStrain00022497
      WBStrain00022825
      WBStrain00023552
      WBStrain00023553
      WBStrain00023571
      WBStrain00026731
      WBStrain00026899
      WBStrain00027176
      WBStrain00027177
      WBStrain00033369
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003055
    Transcript: F48E8.1b.1 (12)
      F48E8.1c.1 (12)
      F48E8.1a.1 (12)
    Interactor: WBInteraction000009116
      WBInteraction000503035
      WBInteraction000537301
  Genetics: Interpolated_map_position: III -1.62777
    Mapping_data: In_2_point: 276
        579
        2725
        3796
        3797
        5516
        6014
        7160
      In_multi_point (62)
      In_pos_neg_data: 803
        1590
  Description: Phenotype: WBPhenotype:0000022 Paper_evidence: WBPaper00000031
          WBPaper00000906
          WBPaper00003454
          WBPaper00005747
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
          WBPerson2987
        Remark: about 50% longer than wildtype at all stages, markedly tapering tail and head Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Recessive: Paper_evidence: WBPaper00000906
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000342 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Male bursa elongated. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000370 Paper_evidence: WBPaper00053410
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson3569
        Remark: Eggs elongated. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Figure 2, S1 Paper_evidence: WBPaper00053410
            Curator_confirmed: WBPerson3569
      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 "multiple or discontinuous 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)" and "wide annuli" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0002117 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: low penetrance tendency to form constriction behind head, may result in auto-decapitation Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000505 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: Males are not Ram. Paper_evidence: WBPaper00001328
            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
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0001184 Paper_evidence: WBPaper00032966
        Curator_confirmed: WBPerson2021
        Remark: Abnormally sized mutants did not display enhanced fat accumulation Paper_evidence: WBPaper00032966
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Nile Red staining Paper_evidence: WBPaper00032966
              Curator_confirmed: WBPerson2021
  Reference (12)
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele