WormBase Tree Display for Variation: WBVar00250696

WBVar00250696 Name: Public_name: tm1729
    Other_name: F54A5.3b.1:c.-250_-111+268delinsAT
      F54A5.3a.1:c.138-67_210+268delinsAT
      F54A5.3b.2:c.-266-67_-194+268delinsAT
    HGVSg: CHROMOSOME_I:g.972380_972787delinsAT
  Sequence_details: SMap: S_parent: Sequence: F54A5
    Flanking_sequences: tgcaccatgtaacctttctctaataacctg cttcatgcctgcctaccgcctgatttctaa
    Mapping_target: F54A5
    Source_location: 7 CHROMOSOME_I 972379 972788 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Insertion: AT
      Deletion
    PCR_product: tm1729_external
      tm1729_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 1729
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00018788
    Transcript: F54A5.3a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F54A5.3a.1:c.138-67_210+268delinsAT
        Intron_number: 3-4/7
        Exon_number: 4/8
      F54A5.3b.3 VEP_consequence: splice_donor_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 1/5
        Exon_number: 1/6
      F54A5.3b.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F54A5.3b.2:c.-266-67_-194+268delinsAT
        Intron_number: 2-3/7
        Exon_number: 3/8
      F54A5.3b.1 VEP_consequence: splice_donor_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F54A5.3b.1:c.-250_-111+268delinsAT
        cDNA_position: 3725-?
        Intron_number: 2/6
        Exon_number: 2/7
    Interactor: WBInteraction000503796
  Isolation: Mutagen: TMP/UV
  Genetics: Map: I
  Description: Phenotype: WBPhenotype:0000591 Paper_evidence: WBPaper00032209
        Curator_confirmed: WBPerson712
        Remark: Animals were hypersensitive to copper, and cadmium. Animals grew poorly on plates containing these metal ions and failed to reach the adult stage within 4 days. Paper_evidence: WBPaper00032209
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00032209
            Curator_confirmed: WBPerson712
      WBPhenotype:0000593 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comments to the National Bioresource Project of Japan: Dr. K. Matsumoto: sensitive to copper. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
      WBPhenotype:0001349 Paper_evidence: WBPaper00032209
        Curator_confirmed: WBPerson712
        Remark: Phosphorylated PMK-1 levels were normal. Paper_evidence: WBPaper00032209
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00032209
            Curator_confirmed: WBPerson712
      WBPhenotype:0001351 Paper_evidence: WBPaper00032209
        Curator_confirmed: WBPerson712
        Remark: Phosphorylated KGB-1 levels were significantly decreased, whether treated with Cu2+ or not. Paper_evidence: WBPaper00032209
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00032209
            Curator_confirmed: WBPerson712
      WBPhenotype:0001724 Paper_evidence: WBPaper00032209
        Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00032209
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were cultured from embryogenesis on normal plates containing 1 ug/ml tunicamycin. The percentage of worms reaching adulthood 4 days after egg laying was scored. Paper_evidence: WBPaper00032209
              Curator_confirmed: WBPerson712
    Phenotype_not_observed (5)
  Reference: WBPaper00032209
  Remark (2)
  Method: NBP_knockout_allele