WormBase Tree Display for Variation: WBVar00089103

WBVar00089103 Evidence: Person_evidence: WBPerson625
  Name: Public_name: mn216
    Other_name: ZK1067.1c.1:c.1420G>A
      ZK1067.1d.1:c.1441G>A
      CE03840:p.Gly469Arg
      CE50411:p.Gly481Arg
      CE42891:p.Gly408Arg
      ZK1067.1b.1:c.1222G>A
      ZK1067.1a.1:c.1405G>A
      CE42910:p.Gly474Arg
    HGVSg: CHROMOSOME_II:g.9201268G>A
  Sequence_details: SMap: S_parent: Sequence: ZK1067
    Flanking_sequences: caatgcgatgacttggaagaactgagcttaaactcattgaaacttataaaaact gagctgtattaataatgaaaaatcatcgattgtgttatgtgtcgaaaattgattggtcatca
    Mapping_target: ZK1067
    Type_of_mutation: Substitution: g a Person_evidence: WBPerson625
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: SP
    Person: WBPerson625
    Status: Live
  Affects: Gene: WBGene00002299
    Transcript: ZK1067.1d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: ZK1067.1d.1:c.1441G>A
        HGVSp: CE50411:p.Gly481Arg
        cDNA_position: 1447
        CDS_position: 1441
        Protein_position: 481
        Exon_number: 11/21
        Codon_change: Gga/Aga
        Amino_acid_change: G/R
      ZK1067.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: ZK1067.1b.1:c.1222G>A
        HGVSp: CE42891:p.Gly408Arg
        cDNA_position: 1222
        CDS_position: 1222
        Protein_position: 408
        Exon_number: 7/16
        Codon_change: Gga/Aga
        Amino_acid_change: G/R
      ZK1067.1c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: ZK1067.1c.1:c.1420G>A
        HGVSp: CE42910:p.Gly474Arg
        cDNA_position: 1420
        CDS_position: 1420
        Protein_position: 474
        Exon_number: 9/19
        Codon_change: Gga/Aga
        Amino_acid_change: G/R
      ZK1067.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: ZK1067.1a.1:c.1405G>A
        HGVSp: CE03840:p.Gly469Arg
        cDNA_position: 1494
        CDS_position: 1405
        Protein_position: 469
        Exon_number: 10/20
        Codon_change: Gga/Aga
        Amino_acid_change: G/R
  Isolation: Mutagen: EMS
    Forward_genetics: balanced lethal
  Genetics: Interpolated_map_position: II 1.09443
  Description: Phenotype: WBPhenotype:0000411 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000698 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Remark: Only observed in a let-23 heteroallelic strain: mn216/n1045 Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: mn216/n1045 Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00014296
    WBPaper00000762
    WBPaper00014627
    WBPaper00013924
    WBPaper00001917
  Remark: isolated by RK Herman; sequenced by Sternberg lab.
    alt_det = G469R. gga to aga codon mut_det = g to a
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00002299 Missense 469 G to R
  Method: Substitution_allele