WormBase Tree Display for Variation: WBVar00088765

WBVar00088765 Evidence: Paper_evidence: WBPaper00004705
  Name: Public_name: ma116
    Other_name: F46B6.3b.1:c.141-1G>A
      F46B6.3a.1:c.141-1G>A
    HGVSg: CHROMOSOME_V:g.9777550C>T
  Sequence_details: SMap: S_parent: Sequence: F46B6
    Flanking_sequences: tttgcttctaaagtcataaacattttttca gttcgaccgatgtgcttatgcaacgcttac
    Mapping_target: F46B6
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004551
      WBStrain00004567
    Laboratory: VT
    Status: Live
  Affects: Gene: WBGene00004882
    Transcript: F46B6.3b.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: F46B6.3b.1:c.141-1G>A
        Intron_number: 2/5
      F46B6.3a.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: F46B6.3a.1:c.141-1G>A
        Intron_number: 2/5
    Interactor: WBInteraction000517351
      WBInteraction000517352
      WBInteraction000517353
      WBInteraction000517354
      WBInteraction000518885
      WBInteraction000518890
  Genetics: Interpolated_map_position: V 2.19428
    Mapping_data: In_2_point: 3387
      In_multi_point: 1192
        3101
        3102
      In_pos_neg_data: 4574
        4575
  Description: Phenotype: WBPhenotype:0000506 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: adult male has swollen bursa Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: adult hermaphrodite has protruding vulva Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0001538 Paper_evidence: WBPaper00001192
          WBPaper00001813
        Curator_confirmed: WBPerson2021
        Remark: Isolated as a suppressor of lin-29(n546). Suppresses paralysis in unc-54(r293), sterility in tra-2(e1209), Egl and alae defects in lin-29(n546) and Dpy phenotype in dpy-5(e61). The unc-54 phenotype was suppressed with maternal effect. Paper_evidence: WBPaper00001192
            Curator_confirmed: WBPerson2021
          Increases the steady state level of unc-54 mutant mRNAs (altered 3' UTR and nonsense mutations). Paper_evidence: WBPaper00001813
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001192
            WBPaper00001813
          Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00001192
            Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001828 Paper_evidence: WBPaper00004325
        Curator_confirmed: WBPerson2021
        Remark: Mutant smg-3 and smg-4 animals gave a weak, variable response, suggesting that smg-3 or smg-4 may not be required for persistence of RNAi Paper_evidence: WBPaper00004325
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: RNAi injection Paper_evidence: WBPaper00004325
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00013705
    WBPaper00004325
    WBPaper00001192
    WBPaper00021643
    WBPaper00001813
    WBPaper00022962
    WBPaper00017298
  Remark: Substitution is at the end of the first intron [030411 ck1]
  Method: Substitution_allele