WormBase Tree Display for Variation: WBVar00090970

WBVar00090970 Evidence: Paper_evidence: WBPaper00003711
  Name: Public_name: ne300
    Other_name: CE28243:p.Gln825Ter
      K08H10.7.1:c.2473C>T
    HGVSg: CHROMOSOME_V:g.9988709G>A
  Sequence_details: SMap: S_parent: Sequence: K08H10
    Flanking_sequences: gagcttcgatctttaaaaagcgaagtaaaa aattcatgtcggaacgggatggagaagatc
    Mapping_target: K08H10
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003711
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034049
      WBStrain00034050
      WBStrain00034057
      WBStrain00040420
      WBStrain00040438
      WBStrain00050715
      WBStrain00050716
    Laboratory: WM
    Status: Live
  Affects: Gene: WBGene00004323
    Transcript: K08H10.7.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K08H10.7.1:c.2473C>T
        HGVSp: CE28243:p.Gln825Ter
        cDNA_position: 2501
        CDS_position: 2473
        Protein_position: 825
        Exon_number: 11/13
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: V 2.2278
  Description: Phenotype: WBPhenotype:0000032 Paper_evidence: WBPaper00044603
        Curator_confirmed: WBPerson712
        Remark: animals are sick Paper_evidence: WBPaper00044603
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: mgIs30 Paper_evidence: WBPaper00044603
              Curator_confirmed: WBPerson712
      WBPhenotype:0000743 Paper_evidence: WBPaper00044603
        Curator_confirmed: WBPerson712
        Remark: sick Paper_evidence: WBPaper00044603
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: mgIs30 Paper_evidence: WBPaper00044603
              Curator_confirmed: WBPerson712
      WBPhenotype:0001208 Paper_evidence: WBPaper00046393
        Curator_confirmed: WBPerson712
        Remark: GFP::RDE-8(D76N) failed to capture target mRNA in the rde-1(ne300) mutant background (Figure 6B). Paper_evidence: WBPaper00046393
            Curator_confirmed: WBPerson712
      WBPhenotype:0001595 Paper_evidence: WBPaper00025011
        Curator_confirmed: WBPerson3423
    Phenotype_not_observed: WBPhenotype:0000033 Paper_evidence: WBPaper00026761
        Curator_confirmed: WBPerson712
        Remark: These worms display no obvious let-7-like heterochronic phenotypes. Paper_evidence: WBPaper00026761
            Curator_confirmed: WBPerson712
      WBPhenotype:0000136 Paper_evidence: WBPaper00026761
        Curator_confirmed: WBPerson712
        Remark: No apparent differences from wild-type in lin-41 mRNA regulation were detected in RNA collected from rde-1(ne300) mutant worms, which are fully RNAi defective. Paper_evidence: WBPaper00026761
            Curator_confirmed: WBPerson712
      WBPhenotype:0000743 Paper_evidence: WBPaper00044603
        Curator_confirmed: WBPerson712
        Remark: Transgene expression is wild-type Paper_evidence: WBPaper00044603
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: mgIs30 Paper_evidence: WBPaper00044603
              Curator_confirmed: WBPerson712
  Reference: WBPaper00026761
    WBPaper00003711
    WBPaper00025011
    WBPaper00044603
    WBPaper00046393
    WBPaper00065312
    WBPaper00065315
    WBPaper00066038
  Method: Substitution_allele