WormBase Tree Display for Variation: WBVar00090170

WBVar00090170 Evidence: Paper_evidence: WBPaper00032921
  Name: Public_name: n1439
    Other_name: C08C3.7:n.11_41delinsATTTTGGAATGTTCCAGAACTTTCTAGAAAAATCGAGAAA
    HGVSg: CHROMOSOME_III:g.7800655_7800685delinsTTTCTCGATTTTTCTAGAAAGTTCTGGAACATTCCAAAAT
  Sequence_details: SMap: S_parent: Sequence: C08C3
    Flanking_sequences: ctgttaatatttttacgagccattgtattat aacggagaatcattttaaattttttgttgtt
    Mapping_target: C08C3
    Type_of_mutation: Insertion: tttctcgatttttctagaaagttctggaacattccaaaat
      Deletion: ggaacccggtgttattatgattgttattaac
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00196265
    Transcript: C08C3.7 VEP_consequence: non_coding_transcript_exon_variant
        VEP_impact: MODIFIER
        HGVSc: C08C3.7:n.11_41delinsATTTTGGAATGTTCCAGAACTTTCTAGAAAAATCGAGAAA
        cDNA_position: 11-41
        Exon_number: 1/1
  Genetics: Interpolated_map_position: III -0.586327
    Mapping_data: In_multi_point: 1397
        1494
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00001133
          WBPaper00001105
        Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00001133
                WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 92 92 Paper_evidence: WBPaper00001133
                  WBPaper00001105
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                  WBPaper00001105
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000154 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: Mutants show a 42 percent drop in brood size (compared to wild-type) Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000339 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weakest allele Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000354 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSN maturation is abnormal. No hood formation and nucleolar growth is observed Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000425 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: Serotonin levels are reduced in HSNs (determined immunocytochemically). Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000470 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSNs fail to arrive at their final destination (between P5/6 and V4) Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001414 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weakest allele, males can mate Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00014215
    WBPaper00013781
    WBPaper00001105
    WBPaper00001133
    WBPaper00013865
    WBPaper00018228
  Remark: n1439 contains an ~800bp insertion of a tandem repeat (19 near-identical copies of a 40 base repeat element-shown above) and a deletion of 37 bp at the insertion site, both ~13.8 kb upstream of the egl-5 coding region.
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00001174 Genomic_neighbourhood
  Method: Deletion_and_insertion_allele