WormBase Tree Display for Variation: WBVar00090351

WBVar00090351 Evidence: Paper_evidence: WBPaper00001438
  Name: Public_name: n2094
    Other_name: C48B4.4c.1:c.346C>T
      CE20575:p.Gln183Ter
      C48B4.4d.1:c.547C>T
      C48B4.4b.1:c.346C>T
      CE24856:p.Gln116Ter
      C48B4.4a.1:c.346C>T
      CE27867:p.Gln116Ter
      CE24857:p.Gln116Ter
      C48B4.4a.2:c.346C>T
    HGVSg: CHROMOSOME_III:g.9578557G>A
  Sequence_details: SMap: S_parent: Sequence: C48B4
    Flanking_sequences: gatttaatgaaaaagtttgctgaaagattt aaagtgccaaactgaaactatcggtgaaga
    Mapping_target: C48B4
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003091
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027349
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00000421
    Transcript: C48B4.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C48B4.4b.1:c.346C>T
        HGVSp: CE24857:p.Gln116Ter
        cDNA_position: 488
        CDS_position: 346
        Protein_position: 116
        Exon_number: 5/17
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C48B4.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C48B4.4d.1:c.547C>T
        HGVSp: CE20575:p.Gln183Ter
        cDNA_position: 547
        CDS_position: 547
        Protein_position: 183
        Exon_number: 4/15
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C48B4.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C48B4.4c.1:c.346C>T
        HGVSp: CE27867:p.Gln116Ter
        cDNA_position: 346
        CDS_position: 346
        Protein_position: 116
        Exon_number: 3/14
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C48B4.4a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C48B4.4a.2:c.346C>T
        HGVSp: CE24856:p.Gln116Ter
        cDNA_position: 514
        CDS_position: 346
        Protein_position: 116
        Exon_number: 5/17
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C48B4.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C48B4.4a.1:c.346C>T
        HGVSp: CE24856:p.Gln116Ter
        cDNA_position: 496
        CDS_position: 346
        Protein_position: 116
        Exon_number: 5/17
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000518649
      WBInteraction000521807
      WBInteraction000524940
  Genetics: Interpolated_map_position: III 0.661314
  Description: Phenotype: WBPhenotype:0000885 Paper_evidence: WBPaper00001438
        Curator_confirmed: WBPerson2021
        Remark: Failure to engulf cell corpses Paper_evidence: WBPaper00001438
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: Paper_evidence: WBPaper00001438
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001438
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
            WBbt:0003666 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
        Maternal
      WBPhenotype:0001911 Paper_evidence: WBPaper00055000
        Curator_confirmed: WBPerson1068
      WBPhenotype:0002408 Paper_evidence: WBPaper00041869
        Curator_confirmed: WBPerson3772
    Phenotype_not_observed: WBPhenotype:0001208 Paper_evidence: WBPaper00027644
        Curator_confirmed: WBPerson557
        Remark: Animals were not resistant to RNAi as assayed on either pop-1 RNAi or unc-22 RNAi. Paper_evidence: WBPaper00027644
            Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Animals reared on both pop-1 and unc-22 feeding plates at 15, 20, 25, and 26C. Paper_evidence: WBPaper00027644
              Curator_confirmed: WBPerson557
  Reference: WBPaper00003091
    WBPaper00041869
    WBPaper00001438
    WBPaper00027644
    WBPaper00055000
  Method: Substitution_allele