WormBase Tree Display for Variation: WBVar00248908

WBVar00248908 Evidence: Paper_evidence: WBPaper00001756
  Name: Public_name: sy96
    Other_name: Y73B6A.5e.1:c.589-1G>A
      Y73B6A.5b.1:c.811-1G>A
      Y73B6A.5f.1:c.553-1G>A
      Y73B6A.5c.1:c.640-1G>A
      Y73B6A.5d.1:c.760-1G>A
      Y73B6A.5a.1:c.685-1G>A
    HGVSg: CHROMOSOME_IV:g.6746097C>T
  Sequence_details: SMap: S_parent: Sequence: Y73B6A
    Flanking_sequences: acaattcttatctaaaacatttaattttca ctagtgaaagaactctttgggatcgcatca
    Mapping_target: Y73B6A
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00001756
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027280
      WBStrain00030711
      WBStrain00030713
      WBStrain00030718
      WBStrain00030812
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00003030
    Transcript: Y73B6A.5c.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y73B6A.5c.1:c.640-1G>A
        Intron_number: 5/13
      Y73B6A.5e.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y73B6A.5e.1:c.589-1G>A
        Intron_number: 5/13
      Y73B6A.5f.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y73B6A.5f.1:c.553-1G>A
        Intron_number: 3/10
      Y73B6A.5b.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y73B6A.5b.1:c.811-1G>A
        Intron_number: 5/13
      Y73B6A.5a.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y73B6A.5a.1:c.685-1G>A
        Intron_number: 4/12
      Y73B6A.5d.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y73B6A.5d.1:c.760-1G>A
        Intron_number: 6/14
    Interactor: WBInteraction000519051
      WBInteraction000535559
      WBInteraction000563586
      WBInteraction000563587
      WBInteraction000563588
  Genetics: Interpolated_map_position: IV 3.22834
    Mapping_data: In_multi_point: 1641
        1642
        1929
        3152
  Description: Phenotype (11)
    Phenotype_not_observed: WBPhenotype:0001084 Paper_evidence: WBPaper00003955
        Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003571 Paper_evidence: WBPaper00003955
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005670 PATO:0000460 Paper_evidence: WBPaper00003955
                Curator_confirmed: WBPerson712
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
      WBPhenotype:0002193 Paper_evidence: WBPaper00044058
        Curator_confirmed: WBPerson2987
        Remark: "No allele of egl-17, egl-15 or any other downstream FGF component other than sem-5 had any effect on orientation as single mutants (Table 1), which is probably due to the involvement of sem-5 in one of the other pathways controlling vulval orientation as well as its role in the FGF pathway." Paper_evidence: WBPaper00044058
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006895 PATO:0000460 Paper_evidence: WBPaper00044058
                Curator_confirmed: WBPerson2987
      WBPhenotype:0002378 Paper_evidence: WBPaper00054670
        Curator_confirmed: WBPerson2706
        Remark: animals avoid OP50 lawns contaminated with Microbacterium nematophilum as wild type Paper_evidence: WBPaper00054670
            Curator_confirmed: WBPerson2706
  Reference (20)
  Method: Substitution_allele