WormBase Tree Display for Variation: WBVar00091572

WBVar00091572 Evidence: Person_evidence: WBPerson1705
  Name: Public_name: ok273
    Other_name: Y34B4A.8c.1:c.80-700_139+303delinsAAAG
      Y34B4A.8e.1:c.80-700_139+303delinsAAAG
      Y34B4A.8a.1:c.-65-700_-6+303delinsAAAG
      Y34B4A.3.1:c.484+23_833+32delinsCTTT
      Y34B4A.8b.2:c.-1293-700_-931delinsAAAG
    HGVSg: CHROMOSOME_X:g.5276213_5277275delinsCTTT
  Sequence_details: SMap: S_parent: Sequence: Y34B4A
    Flanking_sequences: gttagtttgcaaaactttattt gcggtttaagacttttaatga
    Mapping_target: Y34B4A
    Type_of_mutation: Insertion: cttt
      Deletion
    PCR_product: ok272_external
      ok272_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029319
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00002031
      WBGene00021324
    Transcript: Y34B4A.8g.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 1/13
        Exon_number: 1/14
      Y34B4A.8c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y34B4A.8c.1:c.80-700_139+303delinsAAAG
        Intron_number: 2-3/16
        Exon_number: 3/17
      Y34B4A.8e.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y34B4A.8e.1:c.80-700_139+303delinsAAAG
        Intron_number: 2-3/15
        Exon_number: 3/16
      Y34B4A.3.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y34B4A.3.1:c.484+23_833+32delinsCTTT
        Intron_number: 4-6/8
        Exon_number: 5-6/9
      Y34B4A.8b.2 VEP_consequence: splice_acceptor_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y34B4A.8b.2:c.-1293-700_-931delinsAAAG
        cDNA_position: ?-718
        Intron_number: 1/15
        Exon_number: 2/16
      Y34B4A.8a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y34B4A.8a.1:c.-65-700_-6+303delinsAAAG
        Intron_number: 1-2/16
        Exon_number: 2/17
      Y34B4A.8f.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 1/13
        Exon_number: 1/14
      Y34B4A.8b.3 VEP_consequence: splice_donor_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 1/15
        Exon_number: 1/16
    Interactor: WBInteraction000052313
      WBInteraction000524034
      WBInteraction000524035
  Genetics: Mapping_data: In_multi_point: 4422
  Description: Phenotype: WBPhenotype:0000180 Person_evidence: WBPerson1705
        Curator_confirmed: WBPerson48
        Remark: Abnormalities at midline. Person_evidence: WBPerson1705
            Curator_confirmed: WBPerson48
        Penetrance: Incomplete: Person_evidence: WBPerson1705
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson1705
          Curator_confirmed: WBPerson48
        Variation_effect: Null: Person_evidence: WBPerson1705
            Curator_confirmed: WBPerson48
      WBPhenotype:0000229 Paper_evidence: WBPaper00029002
        Curator_confirmed: WBPerson557
      WBPhenotype:0000384 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Defects in HSN axon morphology such that one HSN axon inappropriately projects contralaterally Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: mgIs71 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001761 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Midline crossover defects of PVQL and PVQR as well as PVPL and PVPR axons, with either contralateral analog inappropriately crossing the midline Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006976 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
            WBbt:0006832 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oyIs14, hdIs26 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001767 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: The midline choice (where the axons turn at the midline either to the left or right) is affected. Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed (14)
  Reference: WBPaper00040941
    WBPaper00032413
    WBPaper00029002
    WBPaper00035166
    WBPaper00006471
  Remark: Presumptive molecular null allele. 1064 nt are deleted following position 39378 in Y34B4A (ACC# AC024755) Person_evidence: WBPerson1705
    Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele