WormBase Tree Display for Variation: WBVar00249545

WBVar00249545 Name: Public_name: tm504
    Other_name: F59G1.1b.1:c.255_1114-8delinsACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
      F59G1.1a.1:c.222_1081-8delinsACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
      F59G1.1d.1:c.21_880-8delinsACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
      F59G1.1b.2:c.255_1114-8delinsACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
    HGVSg: CHROMOSOME_II:g.5915244_5916293delinsACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
  Sequence_details: SMap: S_parent: Sequence: F59G1
    Flanking_sequences: aacaagacggatggcagctcagcttgatgt attataggattgcttcccgtctggtttaat
    Mapping_target: F59G1
    Source_location: 7 CHROMOSOME_II 5915243 5916294 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Insertion: ACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
      Deletion
    PCR_product: tm504_external
      tm504_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 504
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00019127
    Transcript: F59G1.1b.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F59G1.1b.2:c.255_1114-8delinsACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
        cDNA_position: 302-?
        CDS_position: 255-?
        Protein_position: 85-?
        Intron_number: 3-6/8
        Exon_number: 3-6/9
      F59G1.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F59G1.1a.1:c.222_1081-8delinsACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
        cDNA_position: 222-?
        CDS_position: 222-?
        Protein_position: 74-?
        Intron_number: 2-5/7
        Exon_number: 2-5/8
      F59G1.1d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F59G1.1d.1:c.21_880-8delinsACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
        cDNA_position: 191-?
        CDS_position: 21-?
        Protein_position: 7-?
        Intron_number: 2-5/6
        Exon_number: 2-5/7
      F59G1.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F59G1.1b.1:c.255_1114-8delinsACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC
        cDNA_position: 362-?
        CDS_position: 255-?
        Protein_position: 85-?
        Intron_number: 4-7/9
        Exon_number: 4-7/10
  Isolation: Mutagen: TMP/UV
  Genetics: Map: II
  Description: Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson48
      WBPhenotype:0000383 Paper_evidence: WBPaper00032934
        Curator_confirmed: WBPerson2021
        Remark: Levels of GlcCer derivatives in the putative null alleles cgt-1(qa1809) and cgt-3(tm504) were not affected in comparison with those of wild-type animals Paper_evidence: WBPaper00032934
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032934
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000886 Paper_evidence: WBPaper00032934
        Curator_confirmed: WBPerson2021
        Remark: All single CGT mutants showed no observable phenotype Paper_evidence: WBPaper00032934
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032934
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00032934
  Remark: 19145/19146-ACGACACTGATTGCCATCGTTGGCTTCGTCTTCGTATTTTGCCTCTACCTTATTCAC-20195/20196 (1050 bp deletion + 57 bp insertion)
    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