WormBase Tree Display for Variation: WBVar00090149

WBVar00090149 Evidence: Paper_evidence: WBPaper00002518
  Name: Public_name: n1378
    Other_name: CE17673:p.Gln569Ter
      F15C11.1.1:c.1705C>T
    HGVSg: CHROMOSOME_I:g.7047462C>T
  Sequence_details: SMap: S_parent: Sequence: F15C11
    Flanking_sequences: ccaaaaaacgaaaatccactgcttgcaatg aaaaaatgtgggcggagacagagccaccac
    Mapping_target: F15C11
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002518
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027038
      WBStrain00027039
      WBStrain00027045
      WBStrain00027050
      WBStrain00027268
      WBStrain00027281
      WBStrain00027282
      WBStrain00027293
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00004773
    Transcript: F15C11.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F15C11.1.1:c.1705C>T
        HGVSp: CE17673:p.Gln569Ter
        cDNA_position: 1713
        CDS_position: 1705
        Protein_position: 569
        Exon_number: 9/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: I 1.66236
    Mapping_data: In_multi_point: 1446
        1447
        2089
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000070 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Severe Mab. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000093 Paper_evidence: WBPaper00001105
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: Transformation of sex myoblasts into body wall muscles (M. Stern, personal communication) Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
          Lineage defects. 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:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000669 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Hermaphrodite sex muscles fail to differentiate. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000880 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Axon defects. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001224 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSNs often extend aberrant axons 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
    Phenotype_not_observed: WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00006052
    WBPaper00022358
    WBPaper00014018
    WBPaper00011119
    WBPaper00001105
    WBPaper00014234
    WBPaper00017445
    WBPaper00002518
    WBPaper00051369
  Method: Substitution_allele