WormBase Tree Display for Variation: WBVar00089301

WBVar00089301 Evidence: Paper_evidence: WBPaper00004497
  Name: Public_name: n179
    Other_name: n179hs
      n179ts Paper_evidence: WBPaper00004497
      CE03734:p.Arg301Gly
      T25C12.1a.1:c.907A>G
      CE43285:p.Arg303Gly
      T25C12.1b.1:c.901A>G
    HGVSg: CHROMOSOME_X:g.11483366A>G
  Sequence_details: SMap: S_parent: Sequence: T25C12
    Flanking_sequences: ccagtgaatgacgacattgtcaaaattgtt ggaatcaagatttgagcgaggagaatattt
    Mapping_target: T25C12
    Type_of_mutation: Substitution: a g
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00006266
      WBStrain00026738
      WBStrain00040213
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00003003
    Transcript: T25C12.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.992 probably_damaging
        HGVSc: T25C12.1b.1:c.901A>G
        HGVSp: CE03734:p.Arg301Gly
        cDNA_position: 1032
        CDS_position: 901
        Protein_position: 301
        Exon_number: 7/12
        Codon_change: Agg/Ggg
        Amino_acid_change: R/G
      T25C12.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.992 probably_damaging
        HGVSc: T25C12.1a.1:c.907A>G
        HGVSp: CE43285:p.Arg303Gly
        cDNA_position: 1029
        CDS_position: 907
        Protein_position: 303
        Exon_number: 9/14
        Codon_change: Agg/Ggg
        Amino_acid_change: R/G
    Interactor: WBInteraction000051439
      WBInteraction000051440
      WBInteraction000052060
      WBInteraction000052067
      WBInteraction000052068
      WBInteraction000052069
      WBInteraction000052180
      WBInteraction000052181
      WBInteraction000052284
      WBInteraction000052289
      WBInteraction000052336
      WBInteraction000052338
      WBInteraction000052353
      WBInteraction000052432
      WBInteraction000052433
      WBInteraction000052434
      WBInteraction000052435
      WBInteraction000500329
      WBInteraction000501826
      WBInteraction000504444
      WBInteraction000520773
      WBInteraction000521365
      WBInteraction000521366
      WBInteraction000521369
  Isolation: Mutagen: spo
  Genetics: Interpolated_map_position: X 3.86306
    Mapping_data: In_2_point: 492
        636
        637
        688
        3652
      In_multi_point: 410
        551
        552
        553
        647
        796
        1195
        1196
        1200
        1326
        1334
        1335
        1340
        1342
        1438
        1439
        3086
        3087
        3320
        3321
      In_pos_neg_data: 654
        668
        3155
  Description: Phenotype: WBPhenotype:0000061 Paper_evidence: WBPaper00050052
        Curator_confirmed: WBPerson5092
      WBPhenotype:0000093 Paper_evidence: WBPaper00001144
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001144
          Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00001144
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00001144
              Curator_confirmed: WBPerson712
      WBPhenotype:0000113 Paper_evidence: WBPaper00056201
        Curator_confirmed: WBPerson44293
        Remark: Figure 2a, n719 mutants have reduced SL1-LCE expression at all larval stages Paper_evidence: WBPaper00056201
            Curator_confirmed: WBPerson44293
      WBPhenotype:0000170 Paper_evidence: WBPaper00001011
        Curator_confirmed: WBPerson712
        Remark: At the restrictive temperature all seam cells fail to divide during the L3 molt and generate precocious alae instead, as scored by Normarski optics. At the permissive temp, animals are 100% WT in seam cell fate. At intermediate temperatures, the phenotype is incomplete. 30% seam cell nuclei are mutant in homozygous animals. 84% seam cell nuclei are mutant in hemizygous lin-14/Df animals. Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        Penetrance: Complete: At the nonpermissive temperature. Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001011
          Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006913 PATO:0000460 Paper_evidence: WBPaper00001011
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
      WBPhenotype:0000172 Paper_evidence: WBPaper00001011
        Curator_confirmed: WBPerson712
        Remark: Animals have ectopic midbody seam cell nuclei (14 or more). Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001011
          Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005753 PATO:0000460 Paper_evidence: WBPaper00001011
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00001011
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
      WBPhenotype:0000417 Paper_evidence: WBPaper00001011
        Curator_confirmed: WBPerson712
        Remark: At the restrictive temperature all seam cells fail to divide during the L3 molt and generate precocious alae instead as scored by Nomarski optics. Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        Penetrance: Complete: At the nonpermissive temperature. Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001011
          Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006913 PATO:0000460 Paper_evidence: WBPaper00001011
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
      WBPhenotype:0000594 Paper_evidence: WBPaper00001011
        Curator_confirmed: WBPerson712
        Remark: Seam cell nuclei frequently deviate from the characteristic straight line. Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001011
          Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005753 PATO:0000460 Paper_evidence: WBPaper00001011
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00001011
                Curator_confirmed: WBPerson712
      WBPhenotype:0001355 Paper_evidence: WBPaper00001011
        Curator_confirmed: WBPerson712
        Remark: Abnormal gonad morphology is usually observed in severe mutants. Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001011
          Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005178 PATO:0000460 Paper_evidence: WBPaper00001011
                Curator_confirmed: WBPerson712
      WBPhenotype:0001779 Paper_evidence: WBPaper00056201
        Curator_confirmed: WBPerson44293
        Remark: Figure 2c and 2d, n719 mutants have elevated let-7 levels Paper_evidence: WBPaper00056201
            Curator_confirmed: WBPerson44293
    Phenotype_not_observed: WBPhenotype:0000113 Paper_evidence: WBPaper00056201
        Curator_confirmed: WBPerson44293
        Remark: Figure 2a, n179 mutants have similar SL1-LCE expression as wild type Paper_evidence: WBPaper00056201
            Curator_confirmed: WBPerson44293
      WBPhenotype:0000718 Paper_evidence: WBPaper00001011
        Curator_confirmed: WBPerson712
        Remark: XO males exhibit a lin-14 phenotype similar to XX animals and much less severe than X/Df animals. Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001011
          Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
  Reference: WBPaper00015364
    WBPaper00010936
    WBPaper00016053
    WBPaper00016555
    WBPaper00001011
    WBPaper00016419
    WBPaper00013845
    WBPaper00015363
    WBPaper00014071
    WBPaper00016093
    WBPaper00001144
    WBPaper00016421
    WBPaper00013709
    WBPaper00016257
    WBPaper00016228
    WBPaper00016175
    WBPaper00015417
    WBPaper00050052
    WBPaper00056201
  Method: Substitution_allele