WormBase Tree Display for Variation: WBVar00242554

WBVar00242554 Name: Public_name: sa307
    Other_name: F22E12.4c.1:c.199_309+2del
      F22E12.4b.3:c.973_1083+2del
      F22E12.4a.1:c.973_1083+2del
      F22E12.4e.1:c.745_855+2del
      F22E12.4d.1:c.973_1083+2del
      F22E12.4b.1:c.973_1083+2del
      F22E12.4b.2:c.973_1083+2del
    HGVSg: CHROMOSOME_V:g.10473776_10474018del
  Sequence_details: SMap: S_parent: Sequence: Y32F6B
    Flanking_sequences: aactccgctgacccaaaaattaattacaag aagttggtggtacagtacccttgatgcagt
    Mapping_target: Y32F6B
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004676
      WBStrain00004678
      WBStrain00022795
      WBStrain00040834
      WBStrain00040846
    Laboratory: JT
    Status: Live
  Affects: Gene: WBGene00001178
    Transcript: F22E12.4b.3 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4b.3:c.973_1083+2del
        cDNA_position: 973-?
        CDS_position: 973-?
        Protein_position: 325-?
        Intron_number: 5-6/10
        Exon_number: 5-6/11
      F22E12.4b.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4b.2:c.973_1083+2del
        cDNA_position: 979-?
        CDS_position: 973-?
        Protein_position: 325-?
        Intron_number: 6-7/8
        Exon_number: 6-7/9
      F22E12.4a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4a.1:c.973_1083+2del
        cDNA_position: 981-?
        CDS_position: 973-?
        Protein_position: 325-?
        Intron_number: 6-7/11
        Exon_number: 6-7/12
      F22E12.4b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4b.1:c.973_1083+2del
        cDNA_position: 981-?
        CDS_position: 973-?
        Protein_position: 325-?
        Intron_number: 6-7/10
        Exon_number: 6-7/11
      F22E12.4c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4c.1:c.199_309+2del
        cDNA_position: 203-?
        CDS_position: 199-?
        Protein_position: 67-?
        Intron_number: 3-4/8
        Exon_number: 3-4/9
      F22E12.4e.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4e.1:c.745_855+2del
        cDNA_position: 745-?
        CDS_position: 745-?
        Protein_position: 249-?
        Intron_number: 3-4/7
        Exon_number: 3-4/8
      F22E12.4d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4d.1:c.973_1083+2del
        cDNA_position: 981-?
        CDS_position: 973-?
        Protein_position: 325-?
        Intron_number: 6-7/10
        Exon_number: 6-7/11
    Interactor (115)
  Genetics: Interpolated_map_position: V 2.56732
  Description: Phenotype (20)
    Phenotype_not_observed: WBPhenotype:0001381 Paper_evidence: WBPaper00046527
        Curator_confirmed: WBPerson2987
        Remark: egl-9(sa307) mutant worms were not resistant to anoxia exposure when fed a glucose-supplemented diet (Figure S1C) Paper_evidence: WBPaper00046527
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00003916 Paper_evidence: WBPaper00046527
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001990 Paper_evidence: WBPaper00046162
        Curator_confirmed: WBPerson2857
        Remark: animals develop the same number of polyglutamine aggregates as wild-type when exposed to environments with either 1000 ppm or 5000 ppm oxygen Paper_evidence: WBPaper00046162
            Curator_confirmed: WBPerson2857
  Reference (15)
  Method: Deletion_allele