WormBase Tree Display for Variation: WBVar00094366

WBVar00094366 Evidence: Person_evidence: WBPerson215
  Name: Public_name: ok3335
    Other_name: R10D12.14e.1:c.38_478-60del
      R10D12.14c.1:c.38_478-60del
      R10D12.14f.1:c.38_477+101del
      R10D12.14b.1:c.38_477+101del
      R10D12.14a.1:c.38_477+101del
      R10D12.14d.1:c.38_477+101del
    HGVSg: CHROMOSOME_V:g.13964009_13964699del
  Sequence_details: SMap: S_parent: Sequence: R10D12
    Flanking_sequences: AGAACGGAAACAATGGACCTGTCATTGACA CGTTTTGTGCGTGCTTGATAATTAGCTCTA
    Mapping_target: R10D12
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000047
      WBStrain00033104
    Laboratory: RB
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00011195
    Transcript: R10D12.14a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10D12.14a.1:c.38_477+101del
        cDNA_position: 80-?
        CDS_position: 38-?
        Protein_position: 13-?
        Intron_number: 2-5/7
        Exon_number: 2-5/8
      R10D12.14e.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10D12.14e.1:c.38_478-60del
        cDNA_position: 38-?
        CDS_position: 38-?
        Protein_position: 13-?
        Intron_number: 1-4/6
        Exon_number: 1-4/7
      R10D12.14d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10D12.14d.1:c.38_477+101del
        cDNA_position: 84-?
        CDS_position: 38-?
        Protein_position: 13-?
        Intron_number: 2-5/7
        Exon_number: 2-5/8
      R10D12.14c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10D12.14c.1:c.38_478-60del
        cDNA_position: 77-?
        CDS_position: 38-?
        Protein_position: 13-?
        Intron_number: 2-5/8
        Exon_number: 2-5/9
      R10D12.14f.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10D12.14f.1:c.38_477+101del
        cDNA_position: 75-?
        CDS_position: 38-?
        Protein_position: 13-?
        Intron_number: 2-5/7
        Exon_number: 2-5/8
      R10D12.14b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10D12.14b.1:c.38_477+101del
        cDNA_position: 77-?
        CDS_position: 38-?
        Protein_position: 13-?
        Intron_number: 2-5/7
        Exon_number: 2-5/8
    Interactor (14)
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00040544
        Curator_confirmed: WBPerson712
        Remark: Only observed when raised at elevated temperatures. Paper_evidence: WBPaper00040544
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
      WBPhenotype:0000154 Paper_evidence: WBPaper00040544
        Curator_confirmed: WBPerson712
        Remark: Only observed when raised at elevated temperatures (data not shown). Paper_evidence: WBPaper00040544
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
      WBPhenotype:0000518 Paper_evidence: WBPaper00040544
        Curator_confirmed: WBPerson712
        Remark: In an otherwise wild-type background, sao-1(ok3335) does not cause visible deleterious effects under standard growth conditions; however, when raised at elevated temperatures (25 deg C), several incompletely penetrant phenotypes are observed among animals homozygous for the deletion allele sao-1(ok3335). Paper_evidence: WBPaper00040544
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
      WBPhenotype:0000545 Paper_evidence: WBPaper00040544
        Curator_confirmed: WBPerson712
        Remark: Only observed when raised at elevated temperatures (data not shown). Paper_evidence: WBPaper00040544
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
      WBPhenotype:0001175 Paper_evidence: WBPaper00040544
        Curator_confirmed: WBPerson712
        Remark: Only observed when raised at elevated temperatures (data not shown). Paper_evidence: WBPaper00040544
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
  Reference: WBPaper00040544
  Remark: Allele sequenced by Caroline Goutte Curator_confirmed: WBPerson2970
  Method: KO_consortium_allele