WormBase Tree Display for Variation: WBVar00252482

WBVar00252482 Name: Public_name: tm3898
    Other_name: Y53F4B.4a.1:c.201+257_369del
      Y53F4B.4b.1:c.663+257_831del
      Y53F4B.4c.1:c.471+257_639del
      Y53F4B.4a.2:c.201+257_369del
      Y53F4B.4a.3:c.201+257_369del
    HGVSg: CHROMOSOME_II:g.14973910_14974837del
  Sequence_details: SMap: S_parent: Sequence: Y53F4B
    Flanking_sequences: cacatttttgtctcgaaaattcgaattttg ctccttgacgcctcgaaagtcgcaatcgcc
    Mapping_target: Y53F4B
    Source_location: 7 CHROMOSOME_II 14973909 14974838 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm3898_external
      tm3898_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00022241
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 3898
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00013151
    Transcript: Y53F4B.4a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y53F4B.4a.1:c.201+257_369del
        cDNA_position: ?-862
        CDS_position: ?-369
        Protein_position: ?-123
        Intron_number: 4-5/8
        Exon_number: 5-6/9
      Y53F4B.4a.3 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y53F4B.4a.3:c.201+257_369del
        cDNA_position: ?-428
        CDS_position: ?-369
        Protein_position: ?-123
        Intron_number: 2-3/6
        Exon_number: 3-4/7
      Y53F4B.4b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y53F4B.4b.1:c.663+257_831del
        cDNA_position: ?-831
        CDS_position: ?-831
        Protein_position: ?-277
        Intron_number: 3-4/6
        Exon_number: 4-5/7
      Y53F4B.4c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y53F4B.4c.1:c.471+257_639del
        cDNA_position: ?-639
        CDS_position: ?-639
        Protein_position: ?-213
        Intron_number: 2-3/5
        Exon_number: 3-4/6
      Y53F4B.4a.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y53F4B.4a.2:c.201+257_369del
        cDNA_position: ?-731
        CDS_position: ?-369
        Protein_position: ?-123
        Intron_number: 3-4/7
        Exon_number: 4-5/8
  Isolation: Mutagen: TMP/UV
  Genetics: Map: II
  Description: Phenotype: WBPhenotype:0000061 Paper_evidence: WBPaper00046466
        Curator_confirmed: WBPerson29150
        Remark: only upon dietary restriction, Supplementary Figure 6 Paper_evidence: WBPaper00046466
            Curator_confirmed: WBPerson29150
      WBPhenotype:0000461 Paper_evidence: WBPaper00046466
        Curator_confirmed: WBPerson29150
        Remark: Figure 3 Paper_evidence: WBPaper00046466
            Curator_confirmed: WBPerson29150
      WBPhenotype:0002466 Paper_evidence: WBPaper00046466
        Curator_confirmed: WBPerson29150
        Remark: lack of m5C methylation at C2381 of 25S ribosomal RNA Paper_evidence: WBPaper00046466
            Curator_confirmed: WBPerson29150
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson2021
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000643 Paper_evidence: WBPaper00046466
        Curator_confirmed: WBPerson29150
        Remark: Supplementary Figure 4 Paper_evidence: WBPaper00046466
            Curator_confirmed: WBPerson29150
      WBPhenotype:0000750 Person_evidence: WBPerson29150
        Curator_confirmed: WBPerson29150
      WBPhenotype:0001006 Paper_evidence: WBPaper00046466
        Curator_confirmed: WBPerson29150
        Remark: Supplementary Figure 4 Paper_evidence: WBPaper00046466
            Curator_confirmed: WBPerson29150
      WBPhenotype:0001726 Paper_evidence: WBPaper00046466
        Curator_confirmed: WBPerson29150
        Remark: Supplementary Figure 4 Paper_evidence: WBPaper00046466
            Curator_confirmed: WBPerson29150
  Reference: WBPaper00046466
  Remark (2)
  Method: NBP_knockout_allele