WormBase Tree Display for Variation: WBVar00241638

WBVar00241638 Evidence: Paper_evidence: WBPaper00032102
  Name: Public_name: rt68
    Other_name: F11C7.5.1:c.530delinsA
      F11C7.5.2:c.530delinsA
      CE17657:p.Trp177Ter
    HGVSg: CHROMOSOME_X:g.17420796delinsT
  Sequence_details: SMap: S_parent: Sequence: F11C7
    Flanking_sequences: ccgctgccatggccgagacttgccaacgtt tactccaagtgcaccatgttcactccagtg
    Mapping_target: F11C7
    Type_of_mutation: Substitution: gg rr
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: HA
    Status: Live
  Affects: Gene: WBGene00003891
    Transcript: F11C7.5.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F11C7.5.1:c.530delinsA
        HGVSp: CE17657:p.Trp177Ter
        cDNA_position: 591-592
        CDS_position: 530-531
        Protein_position: 177
        Exon_number: 3/4
        Codon_change: tGG/tAG
        Amino_acid_change: W/*
      F11C7.5.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F11C7.5.2:c.530delinsA
        HGVSp: CE17657:p.Trp177Ter
        cDNA_position: 594-595
        CDS_position: 530-531
        Protein_position: 177
        Exon_number: 4/5
        Codon_change: tGG/tAG
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: X 24.0914
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: 57% of animals retain eggs. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
      WBPhenotype:0000071 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a low frequency of head defects. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: Animals are slightly smaller than wild-type animals. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
      WBPhenotype:0000239 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: Although egl-17p::gfp expression in the P6.p cell was similar to control animals, egl-17p::gfp expression was ectopic in approximately 10% of osm-11(lf) L3 animals and was lost in P5.p and/or P7.p descendents in 71% of L4 animals, consistent with the incorrect specification of primary and secondary cell fates. Secondary cell fates were lost as determined by the loss of lin-11p::gfp expression in P5.p and/or P7.p descendents in 67% of osm-11(lf) animals. Finally, lip-1p::GFP expression was not upregulated in P5p and/or P7.p in 35% of animals unlike in wild-type animals. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: lin-3p::gfp or egl-17::gfp or lin-11p::GFP or lip-1p::GFP Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
      WBPhenotype:0000453 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: Two-thirds of animals had a ventral protrusion behind the anus. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
      WBPhenotype:0000676 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit a slightly slower growth rate compared to wild-type animals. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
      WBPhenotype:0000695 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: 15% of animals exhibit a misshapen vulva. Neuronal expression of osm-11cDNA significantly rescued these vulval defects to levels comparable with osm-11 promoter driven cDNA, in addition hypodermal expression of osm-11cDNA also rescued these defects, although to a lower level. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ayIs4 Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: 42% of animals exhibit a protruding vulva. Neuronal expression of osm-11cDNA significantly rescued these vulval defects to levels comparable with osm-11 promoter driven cDNA, in addition hypodermal expression of osm-11cDNA also rescued these defects, although to a lower level. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ayIs4 Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
      WBPhenotype:0000699 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit vulval perturbations. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ayIs4[lip-1p::gfp] Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
      WBPhenotype:0001096 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: 12% of animals exhibit an extra protrusion near the normally positioned vulva. Neuronal expression of osm-11cDNA significantly rescued these vulval defects to levels comparable with osm-11 promoter driven cDNA, in addition hypodermal expression of osm-11cDNA also rescued these defects, although to a lower level. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ayIs4 Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000145 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
      WBPhenotype:0000216 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Remark: AC cell fate specification was not altered in comparison to osm-11(+) animals as determined by the pattern of lin-3p::GFP expression. Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004522 PATO:0000460 Paper_evidence: WBPaper00032102
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: lin-3p::gfp Paper_evidence: WBPaper00032102
              Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
      WBPhenotype:0000648 Paper_evidence: WBPaper00032102
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032102
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032102
            Curator_confirmed: WBPerson712
  Reference: WBPaper00032102
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00003891 Amber_UAG_or_Opal_UGA
  Method: Substitution_allele