WormBase Tree Display for Variation: WBVar00000462

WBVar00000462 Evidence: Person_evidence: WBPerson29929
  Name: Public_name: bn11
    Other_name: R06A4.7.1:c.913C>T
      CE28067:p.Arg305Ter
    HGVSg: CHROMOSOME_II:g.14385271C>T
  Sequence_details: SMap: S_parent: Sequence: R06A4
    Flanking_sequences: acaaaaatcgctgaaggtgctcaaaatctt gaaatccgacgtgttacgcgtgcctcgcat
    Mapping_target: R06A4
    Type_of_mutation: Substitution: c t Person_evidence: WBPerson3695
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034436
    Laboratory: SS
    Status: Live
  Affects: Gene: WBGene00003220
    Transcript: R06A4.7.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R06A4.7.1:c.913C>T
        HGVSp: CE28067:p.Arg305Ter
        cDNA_position: 916
        CDS_position: 913
        Protein_position: 305
        Exon_number: 3/10
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000501741
      WBInteraction000502626
      WBInteraction000502765
      WBInteraction000541586
      WBInteraction000554886
      WBInteraction000554890
      WBInteraction000557642
      WBInteraction000579030
  Genetics: Interpolated_map_position: II 22.9532
    Mapping_data: In_2_point: 6099
        6101
        6102
      In_multi_point: 2167
  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
        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
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: Mutant progeny exhibit abnormal germline proliferation during development and fail to form mature gametes Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
          Few germ cells made. XO germ line less affected. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: 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: Genotype: unc-4(e120) Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000711 Paper_evidence: WBPaper00046339
        Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Animals treated with IR (60 Gy) as young adults. Animals were then rescued overnight and eggs were collected from at least 15 worms for 46 hours. Paper_evidence: WBPaper00046339
              Curator_confirmed: WBPerson557
      WBPhenotype:0000743 Paper_evidence: WBPaper00048539
        Curator_confirmed: WBPerson6615
        Remark: mes-2 ( bn11 ) is defective in the silencing of lir-1, lin-15b, and dpy-13 genes and modestly defective in unc-15 silencing. Paper_evidence: WBPaper00048539
            Curator_confirmed: WBPerson6615
      WBPhenotype:0001036 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Grandchildless, progeny undergo normal embryogenesis but develop into agametic adults. 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
        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
      WBPhenotype:0001300 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Normal P granule staining. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00001477
    WBPaper00013902
    WBPaper00014214
    WBPaper00048539
    WBPaper00046339
  Method: Substitution_allele