WormBase Tree Display for Variation: WBVar00240979

WBVar00240979 Evidence: Paper_evidence: WBPaper00030933
    Person_evidence: WBPerson1414
  Name: Public_name: pr3
    Other_name: T25E12.4c.1:c.601-173_923-264del
      T25E12.4e.1:c.1195-173_1511-264del
      T25E12.4f.1:c.1195-173_1517-264del
      T25E12.4d.1:c.529-173_851-264del
      T25E12.4a.1:c.1195-173_1517-264del
    HGVSg: CHROMOSOME_V:g.16765957_16767502del
  Sequence_details: SMap: S_parent: Sequence: F14D1
    Flanking_sequences: ttgagtgtacgtagatctacaaaatttgtg gcaacaaaaaaaaataaattcgtttaaaaaat
    Mapping_target: F14D1
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CR
    Status: Live
  Affects: Gene: WBGene00198164
      WBGene00012019
    Transcript: T25E12.4f.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T25E12.4f.1:c.1195-173_1517-264del
        Intron_number: 7-10/18
        Exon_number: 8-10/19
      F14D1.3 VEP_consequence: transcript_ablation
        VEP_impact: HIGH
        Exon_number: 1/1
      T25E12.4d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T25E12.4d.1:c.529-173_851-264del
        Intron_number: 3-6/13
        Exon_number: 4-6/14
      T25E12.4c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T25E12.4c.1:c.601-173_923-264del
        Intron_number: 3-6/13
        Exon_number: 4-6/14
      T25E12.4a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T25E12.4a.1:c.1195-173_1517-264del
        Intron_number: 7-10/18
        Exon_number: 8-10/19
      T25E12.4e.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T25E12.4e.1:c.1195-173_1511-264del
        Intron_number: 7-10/17
        Exon_number: 8-10/18
    Interactor: WBInteraction000503002
      WBInteraction000534885
  Genetics: Interpolated_map_position: V 11.1644
  Description: Phenotype_not_observed: WBPhenotype:0001800 Paper_evidence: WBPaper00033094
        Curator_confirmed: WBPerson2021
        Remark: Normal increase in pnlp-29::GFP expression after infection. Paper_evidence: WBPaper00033094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: frIs7 [pnlp-29::GFP] Paper_evidence: WBPaper00033094
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001838 Paper_evidence: WBPaper00033094
        Curator_confirmed: WBPerson2021
        Remark: The PMA-induced upregulation of pnlp-29::GFP expression was normal in mutant worms Paper_evidence: WBPaper00033094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: frIs7 [pnlp-29::GFP] Paper_evidence: WBPaper00033094
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00033094
  Remark: pr3 has a 1.5 kb deletion which covers exons 8-10, introns 8+9 and part of introns 7 and 10. The deletion results in a frame shift and premature stop codon. Person_evidence: WBPerson1414
  Method: Deletion_allele