WormBase Tree Display for Variation: WBVar00146321

WBVar00146321 Evidence: Paper_evidence: WBPaper00031121
  Name: Public_name: gm41
    Other_name: F44A6.2.1:c.856-1G>A
    HGVSg: CHROMOSOME_X:g.10202476C>T
  Sequence_details: SMap: S_parent: Sequence: F44A6
    Flanking_sequences: taaaatcatactaaacgttaaaatgtttca agaatcaatgaagactcaaaaatgaatcga
    Mapping_target: F44A6
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00031121
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028733
    Laboratory: NG
    Status: Live
  Affects: Gene: WBGene00004786
    Transcript: F44A6.2.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: F44A6.2.1:c.856-1G>A
        Intron_number: 5/8
    Interactor: WBInteraction000052217
  Genetics: Interpolated_map_position: X 1.88075
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00003262
        Curator_confirmed: WBPerson712
        Remark: XX survivors of lethality are Egl. Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
      WBPhenotype:0000050 Paper_evidence: WBPaper00035459
        Curator_confirmed: WBPerson2021
        Remark: Inactivation of sex-1 causes greater than 30% embryonic lethality Paper_evidence: WBPaper00035459
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000065 Paper_evidence: WBPaper00003262
        Curator_confirmed: WBPerson712
        Remark: XO viability of sex-1(gm41) homozygotes alone is weakly reduced to 89%; however, gm41 suppresses the XO lethality caused by the presence of 3 copies of sex-1(+). Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00003262
              Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Assay for suppression of extra copies of sex-1(+) occurred in the following background: stDp2/stDp2;him-5;unc-115 sex-1(gm41). Paper_evidence: WBPaper00003262
              Curator_confirmed: WBPerson712
          Genotype: unc-1 or unc-2 Paper_evidence: WBPaper00003262
              Curator_confirmed: WBPerson712
      WBPhenotype:0000066 Paper_evidence: WBPaper00003262
        Curator_confirmed: WBPerson712
        Remark: 37% viability (233 live adults/ 627 total embryos laid) from a homozygous sex-1 mother. Viability is increased to 90% when derived from a sex-1/+ mother (measured in an unc-58/+ background). Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00003262
              Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
      WBPhenotype:0000425 Paper_evidence: WBPaper00003262
        Curator_confirmed: WBPerson712
        Remark: No staining was detected. Anti-SEX-1 was generated against a His6-tagged fragment of SEX-1 aa 1-152 . Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00003262
        Curator_confirmed: WBPerson712
        Remark: XX survivors of lethality are Dpy. Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
      WBPhenotype:0000867 Paper_evidence: WBPaper00035459
        Curator_confirmed: WBPerson2021
        Remark: A significant proportion of sex-1 mutant embryos was arrested in development Paper_evidence: WBPaper00035459
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001236 Paper_evidence: WBPaper00003262
        Curator_confirmed: WBPerson712
        Remark: yIs33[Pxol-1::lacZ] expression is observed in XX embryos, whereas expression is normally only observed in XO embryos. Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00003262
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00003262
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: yIs33[Pxol-1::lacZ]; him-5 Paper_evidence: WBPaper00003262
              Curator_confirmed: WBPerson712
      WBPhenotype:0001276 Paper_evidence: WBPaper00035459
        Curator_confirmed: WBPerson2021
        Remark: xol-1::gfp was ectopically expressed in sex-1(gm41) mutant XX embryos Paper_evidence: WBPaper00035459
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: yIs34 [xol-1::gfp] Paper_evidence: WBPaper00035459
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00015288
    WBPaper00017234
    WBPaper00035459
    WBPaper00003262
    WBPaper00018396
  Method: Substitution_allele