WormBase Tree Display for Variation: WBVar00142958

WBVar00142958 Evidence: Paper_evidence: WBPaper00003843
  Name: Public_name: e96
    Other_name: Y37E11AR.6b.1:c.478C>T
      Y37E11AR.6a.1:c.793C>T
      CE27606:p.Arg265Ter
      CE48555:p.Arg160Ter
    HGVSg: CHROMOSOME_IV:g.3761479G>A
  Sequence_details: SMap: S_parent: Sequence: Y37E11AR
    Flanking_sequences: gaatctctgtactcatcatctggacggctc gatatgtgctcctactgccggctctcctgc
    Mapping_target: Y37E11AR
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003843
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004098
      WBStrain00005671
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006869
    Transcript: Y37E11AR.6a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y37E11AR.6a.1:c.793C>T
        HGVSp: CE27606:p.Arg265Ter
        cDNA_position: 799
        CDS_position: 793
        Protein_position: 265
        Exon_number: 5/6
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      Y37E11AR.6b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y37E11AR.6b.1:c.478C>T
        HGVSp: CE48555:p.Arg160Ter
        cDNA_position: 478
        CDS_position: 478
        Protein_position: 160
        Exon_number: 3/3
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000519472
  Genetics: Interpolated_map_position: IV -2.30737
    Mapping_data: In_multi_point: 52
        127
        906
        1561
        2009
        3241
  Description: Phenotype: WBPhenotype:0000016 Paper_evidence: WBPaper00031872
        Curator_confirmed: WBPerson712
        Remark: % animals paralyzed after 60 min on 1mM aldicarb was significantly higher than % N2 animals paralyzed. Paper_evidence: WBPaper00031872
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00031872
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007833 PATO:0001549 Paper_evidence: WBPaper00031872
                Curator_confirmed: WBPerson712
      WBPhenotype:0000071 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
      WBPhenotype:0000379 Paper_evidence: WBPaper00000031
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: Notched head, especially in L1; resembles vab-1 alleles; penetrance 65%. Easy to impossible to score (ES3/0). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: variable penetrance Paper_evidence: WBPaper00000031
              Curator_confirmed: WBPerson48
            65% Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0002045 Paper_evidence: WBPaper00040629
        Curator_confirmed: WBPerson712
        Remark: Germ-cell corpse quantification in mutants show a strong germ-cell death defect, similar to vab-1/EphR-null mutants. Paper_evidence: WBPaper00040629
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000247 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
      WBPhenotype:0000254 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
      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
  Reference: WBPaper00040629
    WBPaper00031872
    WBPaper00001328
    WBPaper00000031
    WBPaper00000214
  Method: Substitution_allele