WormBase Tree Display for Variation: WBVar00090832

WBVar00090832 Evidence: Paper_evidence: WBPaper00030864
  Name: Public_name: n4337
    Other_name: C43E11.3b.3:c.757_1877+2del
      C43E11.3a.1:c.799_1919+2del
      C43E11.3b.1:c.757_1877+2del
      C43E11.3b.2:c.757_1877+2del
    HGVSg: CHROMOSOME_I:g.4256308_4258167del
  Sequence_details: SMap: S_parent: Sequence: C43E11
    Flanking_sequences: gacacaccacctccaaattttgcgaaaaga aagttattatttataaatttgacttaaaaa
    Mapping_target: C43E11
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027452
      WBStrain00027568
      WBStrain00056265
    Laboratory: MT
      ZAS
    Status: Live
  Affects: Gene: WBGene00016603
    Transcript: C43E11.3b.3 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C43E11.3b.3:c.757_1877+2del
        cDNA_position: 766-?
        CDS_position: 757-?
        Protein_position: 253-?
        Intron_number: 5-8/14
        Exon_number: 5-8/15
      C43E11.3b.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C43E11.3b.2:c.757_1877+2del
        cDNA_position: 963-?
        CDS_position: 757-?
        Protein_position: 253-?
        Intron_number: 6-9/15
        Exon_number: 6-9/16
      C43E11.3a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C43E11.3a.1:c.799_1919+2del
        cDNA_position: 1006-?
        CDS_position: 799-?
        Protein_position: 267-?
        Intron_number: 6-9/15
        Exon_number: 6-9/16
      C43E11.3b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C43E11.3b.1:c.757_1877+2del
        cDNA_position: 977-?
        CDS_position: 757-?
        Protein_position: 253-?
        Intron_number: 6-9/15
        Exon_number: 6-9/16
    Interactor: WBInteraction000502975
      WBInteraction000503731
      WBInteraction000520948
      WBInteraction000565326
  Genetics: Interpolated_map_position: I -1.53286
  Description: Phenotype: WBPhenotype:0000111 Paper_evidence: WBPaper00046612
        Curator_confirmed: WBPerson25837
      WBPhenotype:0000436 Paper_evidence: WBPaper00040969
        Curator_confirmed: WBPerson49112
        Remark: CeCENP-A. Figure4. "The met-1 mutant is viable and fertile, indicating that transcription is not globally misregulated in this mutant. Consistent with this, the genome-wide distributions of H3K36me3, RNA Pol II and CeCENP-A were similar in met-1 and wild-type embryos (Fig. 4a; genome-wide correlation coefficients of 0.88, 0.9 and 0.9, respectively). However, we observed rare regions of ectopic H3K36me3 enrichment in the met-1 mutant (Fig. 4 and Supplementary Figures 11 and 12). Out of 132 regions > 5 kb in size that acquired ectopic H3K36me3 signal in met-1 mutant embryos, 75 did not show significant RNA Pol II occupancy in embryos, suggesting that these regions are mistranscribed in mutant germlines but not in embryos. CeCENP-A was depleted from these regions in embryos (Fig. 4a, b and Supplementary Figs 11 and 12a)." Paper_evidence: WBPaper00040969
            Curator_confirmed: WBPerson49112
        Variation_effect: Null: Paper_evidence: WBPaper00040969
            Curator_confirmed: WBPerson49112
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00040969
              Curator_confirmed: WBPerson49112
      WBPhenotype:0000700 Paper_evidence: WBPaper00030864
        Curator_confirmed: WBPerson1730
        Remark: class B gene, synthetic Muv with class A mutations Paper_evidence: WBPaper00030864
            Curator_confirmed: WBPerson1730
        Phenotype_assay: Genotype: lin-15A(n767) Paper_evidence: WBPaper00030864
              Curator_confirmed: WBPerson1730
      WBPhenotype:0001171 Paper_evidence: WBPaper00046612
        Curator_confirmed: WBPerson25837
      WBPhenotype:0001504 Paper_evidence: WBPaper00037131
        Curator_confirmed: WBPerson13811
      WBPhenotype:0002078 Paper_evidence: WBPaper00040969
        Curator_confirmed: WBPerson49112
        Remark: Quote from paper: "However, we observed rare regions of ectopic H3K36me3 enrichment in the met-1 mutant (Fig. 4 and Supplementary Figures 11 and 12). Out of 132 regions > 5 kb in size that acquired ectopic H3K36me3 signal in met-1 mutant embryos, 75 did not show significant RNA Pol II occupancy in embryos, suggesting that these regions are mistranscribed in mutant germlines but not in embryos. " Paper_evidence: WBPaper00040969
            Curator_confirmed: WBPerson49112
        Variation_effect: Null: Paper_evidence: WBPaper00040969
            Curator_confirmed: WBPerson49112
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00040969
        Curator_confirmed: WBPerson49112
        Remark: Quote from paper: "The met-1 mutant is viable and fertile, indicating that transcription is not globally misregulated in this mutant." Paper_evidence: WBPaper00040969
            Curator_confirmed: WBPerson49112
        Variation_effect: Null: Paper_evidence: WBPaper00040969
            Curator_confirmed: WBPerson49112
      WBPhenotype:0000688 Paper_evidence: WBPaper00040969
        Curator_confirmed: WBPerson49112
        Remark: Quote from paper: "The met-1 mutant is viable and fertile, indicating that transcription is not globally misregulated in this mutant." Paper_evidence: WBPaper00040969
            Curator_confirmed: WBPerson49112
        Variation_effect: Null: Paper_evidence: WBPaper00040969
            Curator_confirmed: WBPerson49112
  Reference: WBPaper00030864
    WBPaper00046612
    WBPaper00037131
    WBPaper00040969
    WBPaper00065754
  Method: Deletion_allele