WormBase Tree Display for Variation: WBVar00142825

WBVar00142825 Name: Public_name: dh128
    Other_name: F07A11.6d.1:c.907C>T
      F07A11.6b.1:c.6655-1112C>T
      F07A11.6e.1:c.5737-1112C>T
      F07A11.6c.1:c.6610-1112C>T
      F07A11.6a.1:c.6067-1112C>T
      F07A11.6f.1:c.5476-1112C>T
      CE03148:p.Arg303Ter
    HGVSg: CHROMOSOME_II:g.11618240G>A
  Sequence_details: SMap: S_parent: Sequence: F07A11
    Flanking_sequences: gaaggatctgcattccgtcggatactgtcg gaagctctacaatgggtaacaactcgggct
    Mapping_target: F07A11
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00024282
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: AA
    Status: Live
  Affects: Gene: WBGene00008549
    Transcript: F07A11.6c.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F07A11.6c.1:c.6610-1112C>T
        Intron_number: 18/21
      F07A11.6f.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F07A11.6f.1:c.5476-1112C>T
        Intron_number: 12/15
      F07A11.6d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F07A11.6d.1:c.907C>T
        HGVSp: CE03148:p.Arg303Ter
        cDNA_position: 1839
        CDS_position: 907
        Protein_position: 303
        Exon_number: 2/7
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F07A11.6b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F07A11.6b.1:c.6655-1112C>T
        Intron_number: 17/20
      F07A11.6a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F07A11.6a.1:c.6067-1112C>T
        Intron_number: 17/21
      F07A11.6e.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F07A11.6e.1:c.5737-1112C>T
        Intron_number: 15/18
    Interactor: WBInteraction000532945
      WBInteraction000532949
      WBInteraction000532953
      WBInteraction000532955
  Genetics: Interpolated_map_position: II 3.79174
  Description: Phenotype_not_observed: WBPhenotype:0000013 Paper_evidence: WBPaper00024451
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00024451
            Curator_confirmed: WBPerson2987
        EQ_annotations: Life_stage: WBls:0000032 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
          GO_term: GO:0040024 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00024451
              Curator_confirmed: WBPerson2987
            25 Paper_evidence: WBPaper00024451
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000033 Paper_evidence: WBPaper00024451
        Curator_confirmed: WBPerson2987
        Remark: din-1(dh128) mutants do not exhibit L3 seam cell division timing defects Paper_evidence: WBPaper00024451
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0005753 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
          GO_term: GO:0048505 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
      WBPhenotype:0000280 Paper_evidence: WBPaper00024451
        Curator_confirmed: WBPerson2987
        Remark: din-1(dh128) mutants exhibit wild type adult seam cells and alae (Table 1) Paper_evidence: WBPaper00024451
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0005753 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
          GO_term: GO:0048505 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
            GO:0042335 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
      WBPhenotype:0000301 Paper_evidence: WBPaper00024451
        Curator_confirmed: WBPerson2987
        Remark: din-1(dh128) mutants exhibit wild type reflexed distal tip cells (Table 1) Paper_evidence: WBPaper00024451
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
            GO:0008406 PATO:0000460 Paper_evidence: WBPaper00024451
                Curator_confirmed: WBPerson2987
  Reference: WBPaper00024451
  Method: Substitution_allele