WormBase Tree Display for Variation: WBVar00000468

WBVar00000468 Evidence: Paper_evidence: WBPaper00005019
  Name: Public_name: bn35
    Other_name: F54C1.3b.1:c.521-197_918-20del
      F54C1.3a.1:c.521-197_918-20del
      F54C1.3a.2:c.521-197_918-20del
    HGVSg: CHROMOSOME_I:g.4998445_4999373del
  Sequence_details: SMap: S_parent: Sequence: F54C1
    Flanking_sequences: taaaatcacacaaaatttataaaaattatt ttgctcttgatttttccagtgatcgagaag
    Mapping_target: F54C1
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034439
    Laboratory: SS
    Status: Live
  Affects: Gene: WBGene00003221
    Transcript: F54C1.3a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F54C1.3a.1:c.521-197_918-20del
        Intron_number: 5-7/16
        Exon_number: 6-7/17
      F54C1.3b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F54C1.3b.1:c.521-197_918-20del
        Intron_number: 5-7/15
        Exon_number: 6-7/16
      F54C1.3a.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F54C1.3a.2:c.521-197_918-20del
        Intron_number: 5-7/17
        Exon_number: 6-7/18
    Interactor: WBInteraction000050759
      WBInteraction000050869
      WBInteraction000050875
      WBInteraction000050885
      WBInteraction000050889
      WBInteraction000051789
      WBInteraction000502763
      WBInteraction000541583
      WBInteraction000554887
      WBInteraction000554891
  Genetics: Interpolated_map_position: I -0.428873
    Mapping_data: In_2_point: 6041
        6045
      In_multi_point: 2091
        2092
        2093
        2097
        3118
  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: Grandchildless, progeny undergo normal embryogenesis but develop into agametic adults; few germ cells made. Normal P granule staining. XO germ line less affected. 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: WBPaper00014583
    WBPaper00001477
    WBPaper00014393
    WBPaper00014214
  Method: Deletion_allele