WormBase Tree Display for Variation: WBVar00242710

WBVar00242710 Evidence: Paper_evidence: WBPaper00001835
  Name: Public_name: sc103
    Other_name: CE02104:p.Gln48Ter
      B0491.2.2:c.142C>T
      B0491.2.1:c.142C>T
    HGVSg: CHROMOSOME_II:g.11337561G>A
  Sequence_details: SMap: S_parent: Sequence: B0491
    Flanking_sequences: tttgaattttaaataatttttaattttctag aatctaccaatggattgtggaaggacatagt
    Mapping_target: B0491
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00001835
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00003804
      WBStrain00005822
    Laboratory: BE
    Status: Live
  Affects: Gene: WBGene00005016
    Transcript: B0491.2.2 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: B0491.2.2:c.142C>T
        HGVSp: CE02104:p.Gln48Ter
        cDNA_position: 157
        CDS_position: 142
        Protein_position: 48
        Exon_number: 4/5
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      B0491.2.1 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: B0491.2.1:c.142C>T
        HGVSp: CE02104:p.Gln48Ter
        cDNA_position: 174
        CDS_position: 142
        Protein_position: 48
        Exon_number: 4/5
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000501830
  Genetics: Interpolated_map_position: II 3.44065
  Description: Phenotype: WBPhenotype:0000501 Paper_evidence: WBPaper00000906
        Curator_confirmed: WBPerson712
        Remark: Left roller as transheterozygote with sc13 but not sc97, sc99, sc101 or e1350. Paper_evidence: WBPaper00000906
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00000906
        Curator_confirmed: WBPerson712
        Remark: Dumpy as transheterozyogte with e1350, but not sc97, sc99, sc101 or sc13. Weak dumpy over Df. Paper_evidence: WBPaper00000906
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000505 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: Males are not Ram. Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0000886 Paper_evidence: WBPaper00000906
        Curator_confirmed: WBPerson712
        Remark: Psuedo wild-type. WT as homozygote and heterozygote. Paper_evidence: WBPaper00000906
            Curator_confirmed: WBPerson712
  Reference: WBPaper00027237
    WBPaper00001328
    WBPaper00000906
  Method: Substitution_allele