WormBase Tree Display for Variation: WBVar00145383

WBVar00145383 Name: Public_name: g52
    Other_name: F16B4.8c.1:c.395C>T
      CE50989:p.Ser132Phe
      F16B4.8b.1:c.650C>T
      CE19796:p.Ser239Phe
      CE51040:p.Ser217Phe
      F16B4.8a.1:c.716C>T
    HGVSg: CHROMOSOME_V:g.1583790C>T
  Sequence_details: SMap: S_parent: Sequence: F16B4
    Flanking_sequences: AAACATTGAGAGACATCTTTTTCCGACTCT TGAAAAAGAATTTGATGACAAGTATATTCT
    Mapping_target: F16B4
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007843
    Laboratory: RC
    Status: Live
  Affects: Gene: WBGene00000387
    Transcript: F16B4.8b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F16B4.8b.1:c.650C>T
        HGVSp: CE51040:p.Ser217Phe
        cDNA_position: 650
        CDS_position: 650
        Protein_position: 217
        Exon_number: 3/6
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      F16B4.8a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F16B4.8a.1:c.716C>T
        HGVSp: CE19796:p.Ser239Phe
        cDNA_position: 763
        CDS_position: 716
        Protein_position: 239
        Exon_number: 5/8
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      F16B4.8c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F16B4.8c.1:c.395C>T
        HGVSp: CE50989:p.Ser132Phe
        cDNA_position: 395
        CDS_position: 395
        Protein_position: 132
        Exon_number: 1/3
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
    Interactor: WBInteraction000501671
  Genetics: Interpolated_map_position: V -18.4829
    Mapping_data: In_2_point: 585
        586
        587
      In_multi_point: 487
      In_pos_neg_data: 2858
        2859
        2860
        2861
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00001474
          WBPaper00046507
        Person_evidence: WBPerson205
        Curator_confirmed: WBPerson712
          WBPerson557
        Remark: egg lethal Paper_evidence: WBPaper00001474
            Curator_confirmed: WBPerson712
          We used CRISPR gene editing to rescue the ts Emb phenotype. We also recreated the ts mutation in N2. Both confirm that emb-29 codes for cdc-25.2. Person_evidence: WBPerson205
            Curator_confirmed: WBPerson712
          Embryonic lethal phenotype apparent at 24C and not at 15C. Paper_evidence: WBPaper00046507
            Curator_confirmed: WBPerson557
        Penetrance: Complete: Person_evidence: WBPerson205
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson205
          Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00001474
              Person_evidence: WBPerson205
              Curator_confirmed: WBPerson712
            24C Paper_evidence: WBPaper00046507
              Curator_confirmed: WBPerson557
        Phenotype_assay: Temperature: 24 Paper_evidence: WBPaper00046507
              Curator_confirmed: WBPerson557
      WBPhenotype:0000059 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: At 25C escapers arrest L2-L4. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000363 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: At 25C some divisions delayed. Escapers arrest L2-L4. L1 or L4 temperature shift-up affects gonadogenesis. Probably general G2/M cell cycle arrest. At 16C viable Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000364 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: At 25C misplaced gut granule birefringence. Some divisions delayed. Escapers arrest L2-L4. L1 or L4 temperature shift-up affects gonadogenesis. Probably general G2/M cell cycle arrest. At 16C viable Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000424 Paper_evidence: WBPaper00002773
        Curator_confirmed: WBPerson557
        Remark: The number of LIN-26 positive nuclei was reduced. Paper_evidence: WBPaper00002773
            Curator_confirmed: WBPerson557
      WBPhenotype:0000691 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: L1 or L4 temperature shift-up affects gonadogenesis. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000832 Paper_evidence: WBPaper00002773
        Curator_confirmed: WBPerson557
        Remark: Authors found that the emb-29(g52) mutation affected the C blastomere lineages that generate several body hypodermal cells. Paper_evidence: WBPaper00002773
            Curator_confirmed: WBPerson557
      WBPhenotype:0000867 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: At 25C 100% eggs arrest before mitosis during 150-200 cell stage. L1 or L4 temperature shift-up affects gonadogenesis. Probably general G2/M cell cycle arrest. At 16C viable. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference: WBPaper00001474
    WBPaper00004883
    WBPaper00016209
    WBPaper00002773
    WBPaper00046507
  Method: Substitution_allele