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: 22761/22762-23689/23690 (928 bp deletion)
    This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. Paper_evidence: WBPaper00041807
  Method: NBP_knockout_allele