WormBase Tree Display for Variation: WBVar00088924

WBVar00088924 Evidence: Paper_evidence: WBPaper00006145
  Name: Public_name: mg285
    Other_name: F13D11.2a.1:c.40_254del
      CE27956:p.Ala14ThrfsTer10
    HGVSg: CHROMOSOME_X:g.5823105_5823405del
  Sequence_details: SMap: S_parent: Sequence: F13D11
    Flanking_sequences: tccgatagtccagaagaattggcacaaaga acaacaacccggagaaaagattcatcctga
    Mapping_target: F13D11
    Type_of_mutation: Deletion: gcaaagccagcctggaggttacaacagatgcctgtacagctcagcaattttgtgtcaaaaacacctttaatagggtgagttgatttgacacttattttcttaactgcaaattatcaaaatttcaaacttttctgaaagttaaatgatttttgtgttatagatcagaatggcctcctactggtgattggagaagtgccaacaataacagtcttggcgattggaataaatgttgtgttcctggatcagagattcctcaacacttaggtccatttggcaattcatcattgacgatgctgactgc Paper_evidence: WBPaper00005909
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005179
    Laboratory: GR
    Status: Live
  Affects: Gene: WBGene00001824
    Transcript: F13D11.2a.1 (11)
      F13D11.2b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-188
        CDS_position: ?-188
        Protein_position: ?-63
        Intron_number: 1/6
        Exon_number: 1-2/7
    Interactor: WBInteraction000050612
      WBInteraction000500921
      WBInteraction000517970
      WBInteraction000517976
      WBInteraction000517981
      WBInteraction000518177
  Genetics: Interpolated_map_position: X -4.27069
  Description: Phenotype: WBPhenotype:0000033 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000134 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000135 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000167 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000170 Paper_evidence: WBPaper00036739
        Curator_confirmed: WBPerson3490
      WBPhenotype:0000202 Paper_evidence: WBPaper00035486
        Curator_confirmed: WBPerson3490
        Phenotype_assay: Genotype: apl-1::gfp::unc-54(3'UTR) Paper_evidence: WBPaper00035486
              Curator_confirmed: WBPerson3490
      WBPhenotype:0000847 Paper_evidence: WBPaper00040787
        Curator_confirmed: WBPerson7245
        Remark: Fig 4 and S4, DD neurons mislocalize the presynaptic components UNC-57 endophilin and RAB-3 in the dorsal cord during delayed synapse remodeling. Paper_evidence: WBPaper00040787
            Curator_confirmed: WBPerson7245
      WBPhenotype:0002232 Paper_evidence: WBPaper00040787
        Curator_confirmed: WBPerson7245
        Remark: Fig 4, DD neurons have delayed synapse remodeling, also Fig S4. Paper_evidence: WBPaper00040787
            Curator_confirmed: WBPerson7245
    Phenotype_not_observed: WBPhenotype:0000039 Paper_evidence: WBPaper00037672
        Curator_confirmed: WBPerson712
        Remark: hbl-1 does not affect lifespan. Paper_evidence: WBPaper00037672
            Curator_confirmed: WBPerson712
      WBPhenotype:0000045 Paper_evidence: WBPaper00040787
        Curator_confirmed: WBPerson7245
        Remark: Fig S4, overall L1-to-L2 development was not delayed, by the appearance of mlt-10 reporter expression or by the appearance of sister VD/AS cell pairs in the ventral cord Paper_evidence: WBPaper00040787
            Curator_confirmed: WBPerson7245
      WBPhenotype:0000566 Paper_evidence: WBPaper00040787
        Curator_confirmed: WBPerson7245
        Remark: Fig 3, hbl-1(mg285) mutants alone do not coil during reverse locomotion. Paper_evidence: WBPaper00040787
            Curator_confirmed: WBPerson7245
      WBPhenotype:0000656 Paper_evidence: WBPaper00040787
        Curator_confirmed: WBPerson7245
        Remark: Fig S3, endogenous EPSC amplitude and rate are normal. Paper_evidence: WBPaper00040787
            Curator_confirmed: WBPerson7245
      WBPhenotype:0001320 Paper_evidence: WBPaper00040787
        Curator_confirmed: WBPerson7245
        Remark: Fig S3, endogenous IPSC and EPSC amplitude are normal. Paper_evidence: WBPaper00040787
            Curator_confirmed: WBPerson7245
  Reference: WBPaper00040787
    WBPaper00018447
    WBPaper00037672
    WBPaper00036739
    WBPaper00035486
  Remark: mg285 also contains a C to A point mutation with flanking sequences of ggtccatttggcaattcatcattgacgatg & tgactgcacaacaacccggagaaaagattc giving rise to a L(83)M mutation Paper_evidence: WBPaper00005909
  Method: Deletion_allele