WormBase Tree Display for Variation: WBVar00241696

WBVar00241696 Evidence: Paper_evidence: WBPaper00045431
  Name: Public_name: s71
    Other_name: CE09631:p.Leu281Ter
      CE43409:p.Leu281Ter
      F25D7.3b.1:c.842T>A
      F25D7.3a.1:c.842T>A
    HGVSg: CHROMOSOME_I:g.10410794T>A
  Sequence_details: SMap: S_parent: Sequence: F25D7
    Flanking_sequences: cagcttctgcatcaactgcaattgcgagtt agcagaaacaattgtggcaattgattattca
    Mapping_target: F25D7
    Type_of_mutation: Substitution: t r Paper_evidence: WBPaper00045431
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000464
      WBStrain00022557
      WBStrain00034109
      WBStrain00034369
    Laboratory: BC
    Status: Live
  Affects: Gene: WBGene00003847
    Transcript: F25D7.3b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F25D7.3b.1:c.842T>A
        HGVSp: CE43409:p.Leu281Ter
        cDNA_position: 899
        CDS_position: 842
        Protein_position: 281
        Exon_number: 4/9
        Codon_change: tTa/tAa
        Amino_acid_change: L/*
      F25D7.3a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F25D7.3a.1:c.842T>A
        HGVSp: CE09631:p.Leu281Ter
        cDNA_position: 899
        CDS_position: 842
        Protein_position: 281
        Exon_number: 4/10
        Codon_change: tTa/tAa
        Amino_acid_change: L/*
    Interactor: WBInteraction000523861
  Genetics: Interpolated_map_position: I 4.98456
    Mapping_data: In_2_point: 464
        5839
        6048
      In_multi_point (14)
      In_pos_neg_data: 2512
        5841
        5843
        5845
        5847
        8063
        8074
        8085
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00045431
        Curator_confirmed: WBPerson703
        Remark: partial penetrance Paper_evidence: WBPaper00045431
            Curator_confirmed: WBPerson703
      WBPhenotype:0000195 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal DTC migration Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00000427
          WBPaper00045431
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson703
        Remark: Weak dumpy, easy to score (ES3) in adult, very hard to score in larvae (ES1). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000427
          Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001412 Paper_evidence: WBPaper00045431
        Curator_confirmed: WBPerson703
      WBPhenotype:0001494 Paper_evidence: WBPaper00045431
        Curator_confirmed: WBPerson703
      WBPhenotype:0001801 Paper_evidence: WBPaper00056872
        Curator_confirmed: WBPerson26767
        Remark: axodendritic polarity of DA9 neuron variant Paper_evidence: WBPaper00056872
            Curator_confirmed: WBPerson26767
        EQ_annotations: Anatomy_term: WBbt:0004857 PATO:0000460 Paper_evidence: WBPaper00056872
                Curator_confirmed: WBPerson26767
        Phenotype_assay: Genotype: wyIs85 [Pitr-1-pB::GFP::RAB-3] Paper_evidence: WBPaper00056872
              Curator_confirmed: WBPerson26767
    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:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference: WBPaper00000427
    WBPaper00001328
    WBPaper00004883
    WBPaper00045431
    WBPaper00056872
  Remark: This was previously annotated as a ta -> rr, this was not correct as tta -> taa (Ochre) or tta -> tga (Opal) can be achieved with a single bp mutation as the original annotation assumed.
  Method: Substitution_allele