WormBase Tree Display for Variation: WBVar00143985

WBVar00143985 Evidence: Paper_evidence: WBPaper00003628
  Name: Public_name: n1410
    Other_name: CE27761:p.Gln104Ter
      CE28236:p.Gln104Ter
      F54B11.3b.1:c.310C>T
      F54B11.3a.1:c.310C>T
    HGVSg: CHROMOSOME_X:g.13585583C>T
  Sequence_details: SMap: S_parent: Sequence: F54B11
    Flanking_sequences: ggtggtactacttcaggatcactctctgag aggagcactggtcagcggccagtctcagca
    Mapping_target: F54B11
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003628
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006816
    Transcript: F54B11.3a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F54B11.3a.1:c.310C>T
        HGVSp: CE28236:p.Gln104Ter
        cDNA_position: 315
        CDS_position: 310
        Protein_position: 104
        Exon_number: 3/12
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      F54B11.3b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F54B11.3b.1:c.310C>T
        HGVSp: CE27761:p.Gln104Ter
        cDNA_position: 315
        CDS_position: 310
        Protein_position: 104
        Exon_number: 3/9
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: X 13.7262
    Mapping_data: In_2_point: 6104
        6162
      In_multi_point: 179
        180
        793
        1197
        1369
        2411
        2417
      In_pos_neg_data (14)
  Description: Phenotype: WBPhenotype:0000099 Paper_evidence: WBPaper00039986
        Curator_confirmed: WBPerson712
        Remark: P neuroblast daughters were missing. Paper_evidence: WBPaper00039986
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008590 PATO:0000460 Paper_evidence: WBPaper00039986
                Curator_confirmed: WBPerson712
      WBPhenotype:0000511 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: variable failures in nuclear migrations : same phenotypes as unc-83(e1408). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000512 Paper_evidence: WBPaper00039986
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit reduced numbers of nuclei in the ventral nerve cord. Paper_evidence: WBPaper00039986
            Curator_confirmed: WBPerson712
      WBPhenotype:0000544 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: reverse kinker as adult, L1 moves well; variable failures in nuclear migrations : same phenotypes as unc-83(e1408). ES3 ME3 (15C) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000648 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: mating always successful (ME3) at 15C. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0001152 Paper_evidence: WBPaper00039986
        Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00039986
              Curator_confirmed: WBPerson712
      WBPhenotype:0001998 Paper_evidence: WBPaper00038282
        Curator_confirmed: WBPerson712
        Remark: Animals showed a similar pattern of vulval cell fate frequency to that of osm-11(ok810) animals with a laser isolated Pn.p cell, that among animals with only one Pn.p animals showed an increase in primary cell fates. Paper_evidence: WBPaper00038282
            Curator_confirmed: WBPerson712
  Reference: WBPaper00038282
    WBPaper00039986
    WBPaper00003628
    WBPaper00016044
    WBPaper00017147
    WBPaper00015175
  Method: Substitution_allele