WormBase Tree Display for Variation: WBVar00090538

WBVar00090538 Name: Public_name: n2665
    Other_name: F31E8.2b.1:c.806_807insCTTG
      CE02711:p.Gly271PhefsTer17
      F31E8.2a.1:c.806_807insCTTG
      CE28229:p.Gly271PhefsTer17
    HGVSg: CHROMOSOME_II:g.6814500_6814501insCTTG
  Sequence_details: SMap: S_parent: Sequence: F31E8
    Flanking_sequences: gacaagttctcattccgcttggaaaaattg tgggagctgttatcgaagaatggaaggata
    Mapping_target: F31E8
    Type_of_mutation: Insertion: cttg
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027274
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00004921
    Transcript: F31E8.2b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F31E8.2b.1:c.806_807insCTTG
        HGVSp: CE28229:p.Gly271PhefsTer17
        cDNA_position: 806-807
        CDS_position: 806-807
        Protein_position: 269
        Exon_number: 4/8
        Codon_change: gat/gaCTTGt
        Amino_acid_change: D/DLX
      F31E8.2a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F31E8.2a.1:c.806_807insCTTG
        HGVSp: CE02711:p.Gly271PhefsTer17
        cDNA_position: 811-812
        CDS_position: 806-807
        Protein_position: 269
        Exon_number: 5/10
        Codon_change: gat/gaCTTGt
        Amino_acid_change: D/DLX
    Interactor: WBInteraction000500594
      WBInteraction000500610
      WBInteraction000500616
  Genetics: Interpolated_map_position: II 0.115801
  Description: Phenotype: WBPhenotype:0001514 Paper_evidence: WBPaper00002316
        Curator_confirmed: WBPerson128
        Remark: defective synaptic vesicle endocytosis Paper_evidence: WBPaper00002316
            Curator_confirmed: WBPerson128
        Recessive: Paper_evidence: WBPaper00002316
          Curator_confirmed: WBPerson128
    Phenotype_not_observed: WBPhenotype:0000436 Paper_evidence: WBPaper00028886
        Curator_confirmed: WBPerson48
        Remark: Localization of the synaptic protein SNB-1 is normal, based on expression analysis of SNB-1::VENUS. Paper_evidence: WBPaper00028886
            Curator_confirmed: WBPerson48
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001684 Paper_evidence: WBPaper00002316
        Curator_confirmed: WBPerson128
        Remark: synaptic vesicle biogenesis unaffected Paper_evidence: WBPaper00002316
            Curator_confirmed: WBPerson128
          synaptic vesicle transport unaffected Paper_evidence: WBPaper00002316
            Curator_confirmed: WBPerson128
  Reference: WBPaper00028886
    WBPaper00004883
    WBPaper00002316
  Method: Insertion_allele