WormBase Tree Display for Variation: WBVar00091396

WBVar00091396 Evidence: Paper_evidence: WBPaper00003509
  Name: Public_name: nr2073
    Other_name: K03E6.1b.1:c.292_925delinsTTATAAA
      K03E6.1b.2:c.292_925delinsTTATAAA
      CE45007:p.Tyr99_Ter309delinsTer
      K03E6.1a.1:c.292_*674delinsTTATAAA
    HGVSg: CHROMOSOME_X:g.1077610_1079313delinsTTATAAA
  Sequence_details: SMap: S_parent: Sequence: K03E6
    Flanking_sequences: cagatgtctccaatatgtcaatctttcagg aaatttattttccatatcactcttgacttt
    Mapping_target: K03E6
    Type_of_mutation: Insertion: TTATAAA Paper_evidence: WBPaper00003509
      Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029278
      WBStrain00029465
      WBStrain00029477
    Laboratory: NS
    Status: Live
  Affects: Gene: WBGene00002988
    Transcript: K03E6.1b.2 (11)
      K03E6.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,stop_lost,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K03E6.1a.1:c.292_*674delinsTTATAAA
        cDNA_position: 366-1681
        CDS_position: 292-?
        Protein_position: 98-?
        Intron_number: 6-8/9
        Exon_number: 6-10/10
      K03E6.1b.1 (11)
    Interactor (17)
  Genetics: Interpolated_map_position: X -18.744
  Description: Phenotype: WBPhenotype:0001278 Paper_evidence: WBPaper00049336
        Curator_confirmed: WBPerson38423
        Remark: "aptf-1 expression was completely abolished in most individuals and strongly reduced in the remaining ones in all developmental stages (Figure 1C, Figure 1-figure supplement 1A)" Paper_evidence: WBPaper00049336
            Curator_confirmed: WBPerson38423
        EQ_annotations: Anatomy_term: WBbt:0005045 PATO:0000460 Paper_evidence: WBPaper00049336
                Curator_confirmed: WBPerson38423
        Phenotype_assay: Genotype: goeIs118[aptf-1p::SL1::GCaMP3.35::SL2::mKate2::aptf-1 3'UTR; unc-119(+)] Paper_evidence: WBPaper00049336
              Curator_confirmed: WBPerson38423
      WBPhenotype:0001512 Paper_evidence: WBPaper00038390
        Curator_confirmed: WBPerson712
        Remark: Class IV Lsy: ASER fate markers are gained in ASEL but ASEL fate markers are unaffected. Paper_evidence: WBPaper00038390
            Curator_confirmed: WBPerson712
      WBPhenotype:0001524 Paper_evidence: WBPaper00049336
        Curator_confirmed: WBPerson38423
        Remark: "The mutants had strongly reduced or even complete absence of immobility during the non-pumping phase (Figure 1A)" Paper_evidence: WBPaper00049336
            Curator_confirmed: WBPerson38423
        Phenotype_assay: Strain: WBStrain00029278 Paper_evidence: WBPaper00049336
              Curator_confirmed: WBPerson38423
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: ASE asymmetry is disrupted (as seen with gcy-5 reporter). Mixed fate in ASEL Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005663 PATO:0000460 Paper_evidence: WBPaper00006052
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00006052
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: ntIs1 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001818 Paper_evidence: WBPaper00049336
        Curator_confirmed: WBPerson38423
        Remark: "RIS activity increased at sleep onset in wild-type animals and also normally increased in lim-6 mutants during the time the animal should enter sleep(Figure 1B)" Paper_evidence: WBPaper00049336
            Curator_confirmed: WBPerson38423
        EQ_annotations: Anatomy_term: WBbt:0005045 PATO:0000460 Paper_evidence: WBPaper00049336
                Curator_confirmed: WBPerson38423
        Phenotype_assay: Strain: WBStrain00029278 Paper_evidence: WBPaper00049336
              Curator_confirmed: WBPerson38423
  Reference: WBPaper00038390
    WBPaper00006052
    WBPaper00003509
    WBPaper00015696
    WBPaper00049336
  Method: Deletion_and_insertion_allele