WormBase Tree Display for Variation: WBVar00242648

WBVar00242648 Evidence: Paper_evidence: WBPaper00002726
  Name: Public_name: sb55
    Other_name: CE32566:p.Arg775Ter
      CE20486:p.Arg772Ter
      CE36682:p.Arg724Ter
      C06C3.1d.1:c.2170C>T
      C06C3.1b.1:c.2323C>T
      C06C3.1c.1:c.2638C>T
      C06C3.1a.1:c.2314C>T
      CE32567:p.Arg880Ter
    HGVSg: CHROMOSOME_II:g.9365988C>T
  Sequence_details: SMap: S_parent: Sequence: C06C3
    Flanking_sequences: gtgccattatttcagggactctcgatttct gatcaaatcgtcgtgcaactggtccagtga
    Mapping_target: C06C3
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002726
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: HR
    Status: Live
  Affects: Gene: WBGene00003196
    Transcript: C06C3.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C06C3.1b.1:c.2323C>T
        HGVSp: CE32566:p.Arg775Ter
        cDNA_position: 2327
        CDS_position: 2323
        Protein_position: 775
        Exon_number: 12/17
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      C06C3.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C06C3.1a.1:c.2314C>T
        HGVSp: CE20486:p.Arg772Ter
        cDNA_position: 2315
        CDS_position: 2314
        Protein_position: 772
        Exon_number: 12/17
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      C06C3.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C06C3.1d.1:c.2170C>T
        HGVSp: CE36682:p.Arg724Ter
        cDNA_position: 2173
        CDS_position: 2170
        Protein_position: 724
        Exon_number: 11/16
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      C06C3.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C06C3.1c.1:c.2638C>T
        HGVSp: CE32567:p.Arg880Ter
        cDNA_position: 2641
        CDS_position: 2638
        Protein_position: 880
        Exon_number: 13/18
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000521260
      WBInteraction000521412
      WBInteraction000521413
      WBInteraction000521414
      WBInteraction000521415
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00002726
  Genetics: Interpolated_map_position: II 1.2985
  Description: Phenotype: WBPhenotype:0000052 Paper_evidence: WBPaper00002726
          WBPaper00003517
        Curator_confirmed: WBPerson712
        Remark: Homozygous sb55 animals show leaky temperature-sensitive maternal-effect embryonic lethality. Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
          With increasing temperature, sb55 results in a recessive leaky Mel phenotype. For sb55, the Mel phenotype is exacerbated to similar extents when in trans to sb56 or deficiency. Paper_evidence: WBPaper00003517
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002726
            WBPaper00003517
          Curator_confirmed: WBPerson712
        Rescued_by_transgene: WBTransgene00012842
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00003517
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00002726
                WBPaper00003517
              Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: unc-4(e120) sqt-1(sc13) Paper_evidence: WBPaper00003517
              Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00003517
        Curator_confirmed: WBPerson712
        Remark: With increasing temperature, sb55 results in a recessive, modest (twofold) decrease in brood size. For sb55, the decreases in brood size (Ste) are exacerbated to similar extents when in trans to sb56 or deficiency. Paper_evidence: WBPaper00003517
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00003517
          Curator_confirmed: WBPerson712
        Rescued_by_transgene: WBTransgene00012842
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00003517
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00003517
              Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: unc-4(e120) sqt-1(sc13) Paper_evidence: WBPaper00003517
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000520 Paper_evidence: WBPaper00002726
        Curator_confirmed: WBPerson712
        Remark: Homozygous sb55 animals are morphologically wild type. Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002726
          Curator_confirmed: WBPerson712
  Reference: WBPaper00002726
    WBPaper00003517
  Method: Substitution_allele