WormBase Tree Display for Variation: WBVar00144371

WBVar00144371 Evidence: Person_evidence: WBPerson260
  Name: Public_name: e1865
    Other_name (18)
    HGVSg: CHROMOSOME_III:g.7735874C>T
  Sequence_details: SMap: S_parent: Sequence: ZK112
    Flanking_sequences: atcattttcgatatgttcggcaacatcttg aaaagttctcatgctctcgctatctcgagt
    Mapping_target: ZK112
    Type_of_mutation: Substitution: c t Person_evidence: WBPerson260
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (74)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003559
    Transcript: ZK112.2g.3 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2g.3:c.2134C>T
        HGVSp: CE00373:p.Gln712Ter
        cDNA_position: 2268
        CDS_position: 2134
        Protein_position: 712
        Exon_number: 9/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2f.1:c.2320C>T
        HGVSp: CE50296:p.Gln774Ter
        cDNA_position: 2320
        CDS_position: 2320
        Protein_position: 774
        Exon_number: 9/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2h.1:c.2143C>T
        HGVSp: CE50238:p.Gln715Ter
        cDNA_position: 2143
        CDS_position: 2143
        Protein_position: 715
        Exon_number: 8/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2d.1:c.2482C>T
        HGVSp: CE50175:p.Gln828Ter
        cDNA_position: 2482
        CDS_position: 2482
        Protein_position: 828
        Exon_number: 10/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2g.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2g.2:c.2134C>T
        HGVSp: CE00373:p.Gln712Ter
        cDNA_position: 2499
        CDS_position: 2134
        Protein_position: 712
        Exon_number: 11/13
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2e.1:c.2329C>T
        HGVSp: CE50121:p.Gln777Ter
        cDNA_position: 2329
        CDS_position: 2329
        Protein_position: 777
        Exon_number: 9/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2g.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2g.1:c.2134C>T
        HGVSp: CE00373:p.Gln712Ter
        cDNA_position: 2365
        CDS_position: 2134
        Protein_position: 712
        Exon_number: 10/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2c.1:c.2491C>T
        HGVSp: CE50320:p.Gln831Ter
        cDNA_position: 2491
        CDS_position: 2491
        Protein_position: 831
        Exon_number: 10/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2a.1:c.2518C>T
        HGVSp: CE50144:p.Gln840Ter
        cDNA_position: 2580
        CDS_position: 2518
        Protein_position: 840
        Exon_number: 12/14
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2b.1:c.2527C>T
        HGVSp: CE50327:p.Gln843Ter
        cDNA_position: 2527
        CDS_position: 2527
        Protein_position: 843
        Exon_number: 11/13
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000518814
  Genetics: Interpolated_map_position: III -0.626159
    Mapping_data: In_2_point: 670
      In_multi_point (11)
  Description: Phenotype: WBPhenotype:0000463 Paper_evidence: WBPaper00049471
        Curator_confirmed: WBPerson664
      WBPhenotype:0000722 Paper_evidence: WBPaper00041268
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson18350
        Remark: abnormal large nucleoli in all cells Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Figure 5, enlarged nucleoli Paper_evidence: WBPaper00041268
            Curator_confirmed: WBPerson18350
          Figure 5, abnormal presence of nucleoli at the 4-cell stage Paper_evidence: WBPaper00041268
            Curator_confirmed: WBPerson18350
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000113 Paper_evidence: WBPaper00032132
        Curator_confirmed: WBPerson712
        Remark: Animals have similar levels of rRNA to wild-type as determined from L1-staged animals. Paper_evidence: WBPaper00032132
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032132
            Curator_confirmed: WBPerson712
  Reference (16)
  Method: Substitution_allele