WormBase Tree Display for Variation: WBVar00000475

WBVar00000475 Evidence: Paper_evidence: WBPaper00005019
  Name: Public_name: bn53
    Other_name: F54C1.3a.1:c.1307G>A
      CE53747:p.Trp417Ter
      F54C1.3a.2:c.1307G>A
      CE11046:p.Trp436Ter
      F54C1.3b.1:c.1250G>A
    HGVSg: CHROMOSOME_I:g.5000323G>A
  Sequence_details: SMap: S_parent: Sequence: F54C1
    Flanking_sequences: agagacatttgacccgactcacttcaagat gccgtgtttttcagtcgatccgacgaaggt
    Mapping_target: F54C1
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: SS
    Status: Live
  Affects: Gene: WBGene00003221
    Transcript: F54C1.3a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F54C1.3a.1:c.1307G>A
        HGVSp: CE11046:p.Trp436Ter
        cDNA_position: 1312
        CDS_position: 1307
        Protein_position: 436
        Exon_number: 11/17
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      F54C1.3b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F54C1.3b.1:c.1250G>A
        HGVSp: CE53747:p.Trp417Ter
        cDNA_position: 1259
        CDS_position: 1250
        Protein_position: 417
        Exon_number: 10/16
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      F54C1.3a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F54C1.3a.2:c.1307G>A
        HGVSp: CE11046:p.Trp436Ter
        cDNA_position: 1312
        CDS_position: 1307
        Protein_position: 436
        Exon_number: 11/18
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: I -0.428809
    Mapping_data: In_2_point: 6042
      In_multi_point: 2094
  Description: Phenotype: WBPhenotype:0000154 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Remark: Homozygous mothers have a reduced average brood size compared to wild-type controls Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001477
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 16 C , 25 C Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000684 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Remark: Mutant progeny exhibit abnormal germline proliferation during development and fail to form mature gametes Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001477
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001037 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Stronger allele than bn35. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001504 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Remark: Mes phenotype is not due to abnormalities in P granule staining Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
          Range: 100 100 Paper_evidence: WBPaper00001477
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001477
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 16 C , 25 C Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000052 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00001477
    WBPaper00014393
  Method: Substitution_allele