WormBase Tree Display for Variation: WBVar00143185

WBVar00143185 Evidence: Paper_evidence: WBPaper00006213
  Name: Public_name: e406
    Other_name: CE41009:p.Gln130LysfsTer14
      CE42509:p.Gln130LysfsTer14
      T04D1.3d.1:c.388del
      T04D1.3a.1:c.388del
      T04D1.3c.1:c.388del
      CE37042:p.Gln130LysfsTer14
    HGVSg: CHROMOSOME_I:g.4675799del
  Sequence_details: SMap: S_parent: Sequence: T04D1
    Flanking_sequences: acgtatcgacaaatggctgatatcaagtat aaatggaggataatgttaaacaaaactttc
    Mapping_target: T04D1
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004163
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006791
    Transcript: T04D1.3d.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: T04D1.3d.1:c.388del
        HGVSp: CE42509:p.Gln130LysfsTer14
        cDNA_position: 392
        CDS_position: 388
        Protein_position: 130
        Exon_number: 3/8
        Codon_change: Caa/aa
        Amino_acid_change: Q/X
      T04D1.3c.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: T04D1.3c.1:c.388del
        HGVSp: CE41009:p.Gln130LysfsTer14
        cDNA_position: 394
        CDS_position: 388
        Protein_position: 130
        Exon_number: 3/8
        Codon_change: Caa/aa
        Amino_acid_change: Q/X
      T04D1.3a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: T04D1.3a.1:c.388del
        HGVSp: CE37042:p.Gln130LysfsTer14
        cDNA_position: 392
        CDS_position: 388
        Protein_position: 130
        Exon_number: 3/8
        Codon_change: Caa/aa
        Amino_acid_change: Q/X
    Interactor: WBInteraction000500597
      WBInteraction000500607
      WBInteraction000500613
      WBInteraction000504724
      WBInteraction000504725
      WBInteraction000504726
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: I -1.018
    Mapping_data: In_2_point: 7
        244
        245
        248
        2499
        2500
      In_multi_point: 21
        233
        234
        991
        998
        1687
        1688
      In_pos_neg_data (15)
  Description: Phenotype: WBPhenotype:0000002 Paper_evidence: WBPaper00001709
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: strong kinker Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000019 Paper_evidence: WBPaper00001709
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: slow pharyngeal pumping Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001709
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000020 Paper_evidence: WBPaper00001709
        Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001709
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000164 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000175 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: tends to hypercontract Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000654 Paper_evidence: WBPaper00065295
        Curator_confirmed: WBPerson2633
      WBPhenotype:0001315 Paper_evidence: WBPaper00037929
        Curator_confirmed: WBPerson6455
      WBPhenotype:0001514 Paper_evidence: WBPaper00065295
        Curator_confirmed: WBPerson2633
    Phenotype_not_observed: WBPhenotype:0000641 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: active Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00037929
    WBPaper00001709
    WBPaper00000031
    WBPaper00065295
  Method: Deletion_allele