WormBase Tree Display for Variation: WBVar00145837

WBVar00145837 Evidence: Paper_evidence: WBPaper00031805
  Name: Public_name: gk431
    Other_name: C48G7.3i.1:c.2961_3484+94delinsGAGATATGCAC
      C48G7.3g.1:c.3777_4300+94delinsGAGATATGCAC
      C48G7.3h.1:c.843_1366+94delinsGAGATATGCAC
      C48G7.3a.1:c.4527_5050+94delinsGAGATATGCAC
      C48G7.3j.1:c.1659_2182+94delinsGAGATATGCAC
      C48G7.3k.1:c.1917_2440+94delinsGAGATATGCAC
      C48G7.3d.1:c.1608_2131+94delinsGAGATATGCAC
      C48G7.3f.1:c.4092_4615+94delinsGAGATATGCAC
      C48G7.3l.1:c.1698_2221+94delinsGAGATATGCAC
    HGVSg: CHROMOSOME_V:g.14785908_14786525delinsGTGCATATCTC
  Sequence_details: SMap: S_parent: Sequence: Y50E8A
    Flanking_sequences: tcgcatctggataatttaatacattttctt gtctcttttgtgtcttttgtacaagcaacg
    Mapping_target: Y50E8A
    Type_of_mutation: Insertion: GTGCATATCTC
      Deletion
    PCR_product: gk431_external
      gk431_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00036257
    Laboratory: VC
    Person: WBPerson427
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00008183
    Transcript: C48G7.3k.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C48G7.3k.1:c.1917_2440+94delinsGAGATATGCAC
        cDNA_position: 1917-?
        CDS_position: 1917-?
        Protein_position: 639-?
        Intron_number: 8/9
        Exon_number: 8/10
      C48G7.3i.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C48G7.3i.1:c.2961_3484+94delinsGAGATATGCAC
        cDNA_position: 2961-?
        CDS_position: 2961-?
        Protein_position: 987-?
        Intron_number: 15/16
        Exon_number: 15/17
      C48G7.3d.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C48G7.3d.1:c.1608_2131+94delinsGAGATATGCAC
        cDNA_position: 1608-?
        CDS_position: 1608-?
        Protein_position: 536-?
        Intron_number: 5/6
        Exon_number: 5/7
      C48G7.3a.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C48G7.3a.1:c.4527_5050+94delinsGAGATATGCAC
        cDNA_position: 4583-?
        CDS_position: 4527-?
        Protein_position: 1509-?
        Intron_number: 24/26
        Exon_number: 24/27
      C48G7.3g.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C48G7.3g.1:c.3777_4300+94delinsGAGATATGCAC
        cDNA_position: 3777-?
        CDS_position: 3777-?
        Protein_position: 1259-?
        Intron_number: 21/22
        Exon_number: 21/23
      C48G7.3f.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C48G7.3f.1:c.4092_4615+94delinsGAGATATGCAC
        cDNA_position: 4092-?
        CDS_position: 4092-?
        Protein_position: 1364-?
        Intron_number: 22/23
        Exon_number: 22/24
      C48G7.3l.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C48G7.3l.1:c.1698_2221+94delinsGAGATATGCAC
        cDNA_position: 1698-?
        CDS_position: 1698-?
        Protein_position: 566-?
        Intron_number: 6/7
        Exon_number: 6/8
      C48G7.3h.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C48G7.3h.1:c.843_1366+94delinsGAGATATGCAC
        cDNA_position: 843-?
        CDS_position: 843-?
        Protein_position: 281-?
        Intron_number: 3/4
        Exon_number: 3/5
      C48G7.3j.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C48G7.3j.1:c.1659_2182+94delinsGAGATATGCAC
        cDNA_position: 1763-?
        CDS_position: 1659-?
        Protein_position: 553-?
        Intron_number: 7/9
        Exon_number: 7/10
  Isolation: Mutagen: TMP/UV
  Genetics: Mapping_data: In_multi_point: 5289
  Description: Phenotype: WBPhenotype:0000393 Paper_evidence: WBPaper00043985
        Curator_confirmed: WBPerson919
        Penetrance: Incomplete: Paper_evidence: WBPaper00043985
              Curator_confirmed: WBPerson919
        Recessive: Paper_evidence: WBPaper00043985
          Curator_confirmed: WBPerson919
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00043985
            Curator_confirmed: WBPerson919
      WBPhenotype:0001224 Paper_evidence: WBPaper00043985
        Curator_confirmed: WBPerson919
        Penetrance: Incomplete: Paper_evidence: WBPaper00043985
              Curator_confirmed: WBPerson919
        Recessive: Paper_evidence: WBPaper00043985
          Curator_confirmed: WBPerson919
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00043985
            Curator_confirmed: WBPerson919
    Phenotype_not_observed: WBPhenotype:0010004 Paper_evidence: WBPaper00031805
        Curator_confirmed: WBPerson2021
        Remark: Mutant worms did not show any defects in corpse removal Paper_evidence: WBPaper00031805
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00031805
    WBPaper00043985
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele