WormBase Tree Display for Variation: WBVar00088013

WBVar00088013 Evidence: Paper_evidence: WBPaper00003944
  Name: Public_name: it33
    Other_name: Y59A8B.14c.1:c.563G>A
      Y59A8B.14b.1:c.152G>A
      CE46081:p.Gly188Glu
      Y59A8B.14a.1:c.575G>A
      CE27410:p.Gly192Glu
      CE46046:p.Gly51Glu
    HGVSg: CHROMOSOME_V:g.18101792G>A
  Sequence_details: SMap: S_parent: Sequence: Y59A8B
    Flanking_sequences: gatacatgtggggaggacaaattggtacag atcatatggaaaagtgaaagaatgtattga
    Mapping_target: Y59A8B
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00003944
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00003932
    Laboratory: KK
    Status: Live
  Affects: Gene: WBGene00003919
    Transcript: Y59A8B.14a.1 (12)
      Y59A8B.14b.1 (12)
      Y59A8B.14c.1 (12)
    Interactor: WBInteraction000501668
  Genetics: Interpolated_map_position: V 14.0938
    Mapping_data: In_2_point: 3386
      In_multi_point: 1167
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00032251
        Curator_confirmed: WBPerson2987
        Remark: Table S4 Paper_evidence: WBPaper00032251
            Curator_confirmed: WBPerson2987
        Penetrance: Complete: 100 Paper_evidence: WBPaper00032251
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000052 Paper_evidence: WBPaper00001032
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: nonconditional, fully penetrant Mel; putative null Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00001032
              Curator_confirmed: WBPerson2021
              Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001032
          Curator_confirmed: WBPerson2021
        Variation_effect: Loss_of_function_undetermined_extent: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001032
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 16C, 20C, 25C Paper_evidence: WBPaper00001032
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001106 Paper_evidence: WBPaper00001032
        Curator_confirmed: WBPerson2021
        Remark: The rotation of the P1 spindle complex is disrupted and P1 blastomere sometimes divides transversely rather than longitudinally Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 20 percent Paper_evidence: WBPaper00001032
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001032
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001032
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Staining with anti-tubulin antibody Paper_evidence: WBPaper00001032
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001120 Paper_evidence: WBPaper00001032
        Curator_confirmed: WBPerson2021
        Remark: In contrast to the wild-type division sequence, early blastomeres cleave synchronously up until the fourth or fifth cleavage Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001032
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001032
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001637 Paper_evidence: WBPaper00001032
        Curator_confirmed: WBPerson2021
        Remark: Almost no terminal stage par-4 embryos produce any intestinal cells Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00001032
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001032
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001032
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001032
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001642 Paper_evidence: WBPaper00001032
        Curator_confirmed: WBPerson2021
        Remark: The orientation of the second embryonic cleavage is altered Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001032
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001032
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Staining with anti-tubulin antibody Paper_evidence: WBPaper00001032
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000417 Paper_evidence: WBPaper00001032
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001032
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001032
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000748 Paper_evidence: WBPaper00001032
        Curator_confirmed: WBPerson2021
        Remark: AB and P1 blastomeres in par-4 mutants have the wild-type pattern of size differences Paper_evidence: WBPaper00001032
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001032
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001032
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001018 Paper_evidence: WBPaper00001032
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001032
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001032
                Curator_confirmed: WBPerson2021
  Reference: WBPaper00001032
    WBPaper00016483
    WBPaper00020804
    WBPaper00013870
    WBPaper00001516
    WBPaper00032251
  Method: Substitution_allele