WormBase Tree Display for Variation: WBVar00089533

WBVar00089533 Evidence: Paper_evidence: WBPaper00032921
  Name: Public_name: n486
    Other_name: CE34523:p.Arg162Cys
      C08C3.1b.1:c.487C>T
      CE29076:p.Arg159Cys
      C08C3.1a.1:c.475C>T
      C08C3.1c.1:c.484C>T
      CE32792:p.Arg163Cys
    HGVSg: CHROMOSOME_III:g.7816155C>T
  Sequence_details: SMap: S_parent: Sequence: C08C3
    Flanking_sequences: agatcgtcaaatcaaaatctggttccaaaat gtcgaatgaaggcgaaaaaagagaagcaaag
    Mapping_target: C08C3
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00032921
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026786
      WBStrain00030544
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00001174
    Transcript: C08C3.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: C08C3.1b.1:c.487C>T
        HGVSp: CE32792:p.Arg163Cys
        cDNA_position: 578
        CDS_position: 487
        Protein_position: 163
        Exon_number: 5/6
        Codon_change: Cgt/Tgt
        Amino_acid_change: R/C
      C08C3.1c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: C08C3.1c.1:c.484C>T
        HGVSp: CE34523:p.Arg162Cys
        cDNA_position: 581
        CDS_position: 484
        Protein_position: 162
        Exon_number: 5/6
        Codon_change: Cgt/Tgt
        Amino_acid_change: R/C
      C08C3.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: C08C3.1a.1:c.475C>T
        HGVSp: CE29076:p.Arg159Cys
        cDNA_position: 566
        CDS_position: 475
        Protein_position: 159
        Exon_number: 5/6
        Codon_change: Cgt/Tgt
        Amino_acid_change: R/C
    Interactor: WBInteraction000002751
      WBInteraction000004090
      WBInteraction000501947
      WBInteraction000503518
      WBInteraction000503914
      WBInteraction000519180
      WBInteraction000524371
  Genetics: Interpolated_map_position: III -0.582044
    Mapping_data: In_2_point: 716
      In_multi_point: 611
        868
      In_pos_neg_data: 1621
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00001133
          WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: egl-5 hermaphrodites either lack or have misplaced HSNs Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00001133
                WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 97 97 Paper_evidence: WBPaper00001133
                  WBPaper00001105
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                  WBPaper00001105
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000007 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Remark: Late-stage eggs are laid. Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
      WBPhenotype:0000022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000070 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000154 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: Mutants show a 52 percent drop in brood size (compared to wild-type) Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000224 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: HSN serotonin-negative. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000316 Paper_evidence: WBPaper00001133
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: Authors comment Occasional animals show some sensitivity to gentle touch Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
          Mec in posterior. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
      WBPhenotype:0000339 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Moderate bloating Egl. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000340 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Not stimulated by imipramine. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000354 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSN maturation is abnormal. No hood formation and nucleolar growth is observed Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000414 Paper_evidence: WBPaper00004662
        Curator_confirmed: WBPerson2987
        Remark: "We therefore determined the orientation of P(11/12)L/R migration in mutants affecting P12 determination: a lin-44; lin-3 double mutant, a lin-17 mutant (LIN-17 is the putative receptor of Wnt/LIN-44; Herman et_al, 1995; Sawa et_al, 1996), a bar-1 mutant (BAR-1/Armadillo is an effector of the Wnt pathway; Eisenmann et_al, 1998), and an egl-5 mutant. In all mutants observed, both cells of the P11/12 pair generally adopt the P11 fate (Table 1A). If the migration handedness was a consequence of fate determination, it should be unbiased in these mutants. However, we see a biased migration pattern of P(11/12)L/R similar to that of wild type (Table 1A). Thus, a left-right asymmetry between the two cells of the P11/12 pair still exists in mutants of their final fate determination." Paper_evidence: WBPaper00004662
            Curator_confirmed: WBPerson2987
        Penetrance: High: 87 Paper_evidence: WBPaper00004662
              Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004409 PATO:0000460 Paper_evidence: WBPaper00004662
                Curator_confirmed: WBPerson2987
      WBPhenotype:0000425 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: Serotonin levels are reduced in HSNs (determined immunocytochemically). Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000470 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSNs fail to arrive at their final destination (between P5/6 and V4) Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000542 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000565 Paper_evidence: WBPaper00000635
          WBPaper00001133
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson2021
          WBPerson712
        Remark: Uncoordinated coiler phenotype. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
      WBPhenotype:0001333 Paper_evidence: WBPaper00000635
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: HSN cell bodies absent or displaced. Paper_evidence: WBPaper00000635
            Person_evidence: WBPerson261
            Curator_confirmed: WBPerson48
              WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0001336 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Remark: Males do not mate. Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: As described in Hodgkin, Horvitz, and Brenner (1979), six L4 males and six L4 dpy-11 hermaphrodites incubated for 24 hours, males removed, and hermaphrodites transferred to fresh dishes each day. Cross-progeny are counted. Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001339 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Remark: data not shown Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 0.1 mg/ml levamisole Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001340 Paper_evidence: WBPaper00000635
          WBPaper00001133
        Curator_confirmed: WBPerson48
          WBPerson2021
        Remark: See Table 1 Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Range: 89 89 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 0.75 mg/ml imipramine Paper_evidence: WBPaper00000635
                WBPaper00001133
              Curator_confirmed: WBPerson48
                WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001341 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Remark: data not shown Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 10 mg/ml phentolamine Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001414 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: male mating is completely abolished Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001639 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002286 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002289 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002293 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002296 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002300 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002301 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002310 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002321 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002336 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002344 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002347 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002496 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Remark: HSN cell bodies absent or displaced. Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00000635
                Curator_confirmed: WBPerson48
      WBPhenotype:0004022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000099 Paper_evidence: WBPaper00005344
        Curator_confirmed: WBPerson2987
        Remark: egl-5(n486)/+ heterozygotes did not display a "2 P11.p" phenotype where P12 adopts a P11 fate Paper_evidence: WBPaper00005344
            Curator_confirmed: WBPerson2987
      WBPhenotype:0000594 Paper_evidence: WBPaper00004662
        Curator_confirmed: WBPerson2987
        Remark: "We therefore determined the orientation of P(11/12)L/R migration in mutants affecting P12 determination: a lin-44; lin-3 double mutant, a lin-17 mutant (LIN-17 is the putative receptor of Wnt/LIN-44; Herman et_al, 1995; Sawa et_al, 1996), a bar-1 mutant (BAR-1/Armadillo is an effector of the Wnt pathway; Eisenmann et_al, 1998), and an egl-5 mutant. In all mutants observed, both cells of the P11/12 pair generally adopt the P11 fate (Table 1A). If the migration handedness was a consequence of fate determination, it should be unbiased in these mutants. However, we see a biased migration pattern of P(11/12)L/R similar to that of wild type (Table 1A). Thus, a left-right asymmetry between the two cells of the P11/12 pair still exists in mutants of their final fate determination." Paper_evidence: WBPaper00004662
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004409 PATO:0000460 Paper_evidence: WBPaper00004662
                Curator_confirmed: WBPerson2987
      WBPhenotype:0001068 Paper_evidence: WBPaper00000635
          WBPaper00001133
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson2021
          WBPerson712
        Remark: Stimulated by serotonin. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 5 mg/ml serotonin Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
            7.5 mg/ml serotonin Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
  Reference: WBPaper00040284
    WBPaper00043908
    WBPaper00005344
    WBPaper00000635
    WBPaper00014695
    WBPaper00001105
    WBPaper00001133
    WBPaper00013865
    WBPaper00004662
  Method: Substitution_allele