WormBase Tree Display for Variation: WBVar00089399

WBVar00089399 Evidence: Paper_evidence: WBPaper00003566
  Name: Public_name: n299
    Other_name: C09H6.2b.1:c.532+3_1689del
      C09H6.2a.1:c.532+3_1773del
      C09H6.2c.1:c.379+3_1620del
    HGVSg: CHROMOSOME_I:g.8113723_8117327del
  Sequence_details: SMap: S_parent: Sequence: C09H6
    Flanking_sequences: acggaaacaagcggcgttgttcaaaataatggt gaaagtaagttgtgaacttttttaaaacttg
    Mapping_target: C09H6
    Type_of_mutation: Insertion
      Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00002999
    Transcript: C09H6.2c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C09H6.2c.1:c.379+3_1620del
        cDNA_position: ?-1620
        CDS_position: ?-1620
        Protein_position: ?-540
        Intron_number: 3-8/14
        Exon_number: 4-9/15
      C09H6.2b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C09H6.2b.1:c.532+3_1689del
        cDNA_position: ?-1692
        CDS_position: ?-1689
        Protein_position: ?-563
        Intron_number: 5-9/16
        Exon_number: 6-10/17
      C09H6.2a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C09H6.2a.1:c.532+3_1773del
        cDNA_position: ?-1774
        CDS_position: ?-1773
        Protein_position: ?-591
        Intron_number: 5-10/17
        Exon_number: 6-11/18
  Genetics: Interpolated_map_position: I 2.55902
  Description: Phenotype: WBPhenotype:0000698 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Remark: 16 percent of Vul hermaphrodites have 1 or more ventral protrusions. Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
          Range: 97 97 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001410 Paper_evidence: WBPaper00003566
        Curator_confirmed: WBPerson2021
        Remark: Both 140- and 70-kDa bands are absent in protein extracts from lin-10(n299) and lin-10(sy217) mutants. Paper_evidence: WBPaper00003566
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Western blotting experiments using anti-LIN-10 antibodies Paper_evidence: WBPaper00003566
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00013806
    WBPaper00000762
    WBPaper00003566
  Remark: exons 4-9 (4.7 kb of C09H6.2) are deleted and there is an insertion of ~300 kb of DNA (spanning cosmids ZK858-DY3) in an inverted orientation. Paper_evidence: WBPaper00003566
    300 kb of DNA (spanning cosmids ZK858-DY3) in an inverted orientation Paper_evidence: WBPaper00003566
  Method: Deletion_and_insertion_allele