WormBase Tree Display for Variation: WBVar00597660

WBVar00597660 Evidence: Paper_evidence: WBPaper00039980
  Name: Public_name: bp242
    Other_name: CE33215:p.Arg161Ter
      CE33216:p.Arg161Ter
      Y39A1A.1b.1:c.481C>T
      Y39A1A.1c.1:c.385C>T
      Y39A1A.1d.1:c.160C>T
      CE37799:p.Arg129Ter
      CE45443:p.Arg54Ter
      Y39A1A.1a.1:c.481C>T
    HGVSg: CHROMOSOME_III:g.10598557G>A
  Sequence_details: SMap: S_parent: Sequence: Y39A1A
    Flanking_sequences: tggacgtatccagatgatattaaacaaatc gatcggaagatattcgttcaaatccaaaag
    Mapping_target: Y39A1A
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00039980
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00008602
    Laboratory: HZ
    Status: Live
  Affects: Gene: WBGene00012641
    Transcript: Y39A1A.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y39A1A.1d.1:c.160C>T
        HGVSp: CE45443:p.Arg54Ter
        cDNA_position: 160
        CDS_position: 160
        Protein_position: 54
        Exon_number: 1/2
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      Y39A1A.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y39A1A.1a.1:c.481C>T
        HGVSp: CE33215:p.Arg161Ter
        cDNA_position: 494
        CDS_position: 481
        Protein_position: 161
        Exon_number: 4/6
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      Y39A1A.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y39A1A.1c.1:c.385C>T
        HGVSp: CE37799:p.Arg129Ter
        cDNA_position: 390
        CDS_position: 385
        Protein_position: 129
        Exon_number: 3/5
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      Y39A1A.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y39A1A.1b.1:c.481C>T
        HGVSp: CE33216:p.Arg161Ter
        cDNA_position: 488
        CDS_position: 481
        Protein_position: 161
        Exon_number: 4/6
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor (16)
  Genetics: Interpolated_map_position: III 3.8166
  Description: Phenotype (13)
    Phenotype_not_observed: WBPhenotype:0000114 Paper_evidence: WBPaper00042320
        Curator_confirmed: WBPerson712
        Remark: Mutants exhibited normal alg-1 and alg-2 and mRNA levels. Paper_evidence: WBPaper00042320
            Curator_confirmed: WBPerson712
      WBPhenotype:0000414 Paper_evidence: WBPaper00042320
        Curator_confirmed: WBPerson712
        Remark: Loss of function of autophagy genes did not cause defects in ASEL fate specification, visualized by the ASEL-specific reporter lim-6pro::GFP. Paper_evidence: WBPaper00042320
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Paper_evidence: WBPaper00042320
              Curator_confirmed: WBPerson712
      WBPhenotype:0000699 Paper_evidence: WBPaper00042320
        Curator_confirmed: WBPerson712
        Remark: Autophagy mutants did not show defects in vulval development. Paper_evidence: WBPaper00042320
            Curator_confirmed: WBPerson712
      WBPhenotype:0000701 Paper_evidence: WBPaper00042320
        Curator_confirmed: WBPerson712
        Remark: Mutants exhibited normal seam cell development Paper_evidence: WBPaper00042320
            Curator_confirmed: WBPerson712
      WBPhenotype:0000885 Paper_evidence: WBPaper00044390
        Curator_confirmed: WBPerson2987
        Remark: epg-6(bp242) mutants exhibited wild type kinetics of CED-1::GFP ring-like structure formation around cell corpses (Figure 1A,B) Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: CED-1-GFP Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001346 Paper_evidence: WBPaper00044390
        Curator_confirmed: WBPerson2987
        Remark: Actin cytoskeleton changes (assembly and disassembly) during cell corpse engulfment in epg-6(bp242) mutants were the same as in wild type (Fig. S2A and S2B), as determined by ACT-1-GFP fluorescence Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
          Actin ring formation on corpse-engulfing phagosomes was not affected by the epg-6(bp242) mutation (Figure S3A,B), in the piki-1(ok2346) mutant background Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: GFP-ACT-1 Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
            piki-1(ok2346); GFP-ACT-1 Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001846 Paper_evidence: WBPaper00044390
        Curator_confirmed: WBPerson2987
        Remark: Actin ring formation on corpse-engulfing phagosomes was not affected by the epg-6(bp242) mutation (Figure S3A,B), in the piki-1(ok2346) mutant background Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: piki-1(ok2346); GFP-ACT-1 Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00039980
    WBPaper00042320
    WBPaper00044390
  Method: Substitution_allele