WormBase Tree Display for Variation: WBVar00248970

WBVar00248970 Evidence: Paper_evidence: WBPaper00003017
  Name: Public_name: sy326
    Other_name (11)
    HGVSg: CHROMOSOME_I:g.5039818_5039819delinsAA
  Sequence_details: SMap: S_parent: Sequence: C46H11
    Flanking_sequences: ttgtttttgatacggaaaaagtgggatgct atgattgactttgcaaagagttcaccggtt
    Mapping_target: C46H11
    Type_of_mutation: Substitution: gg rr
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030843
      WBStrain00030855
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00002979
    Transcript: C46H11.4f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C46H11.4f.1:c.1061_1062delinsAA
        HGVSp: CE52138:p.Trp354Ter
        cDNA_position: 1147-1148
        CDS_position: 1061-1062
        Protein_position: 354
        Exon_number: 9/11
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      C46H11.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C46H11.4c.1:c.1169_1170delinsAA
        HGVSp: CE27864:p.Trp390Ter
        cDNA_position: 1225-1226
        CDS_position: 1169-1170
        Protein_position: 390
        Exon_number: 10/12
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      C46H11.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C46H11.4a.1:c.1268_1269delinsAA
        HGVSp: CE27862:p.Trp423Ter
        cDNA_position: 1505-1506
        CDS_position: 1268-1269
        Protein_position: 423
        Exon_number: 6/8
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      C46H11.4f.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C46H11.4f.2:c.1061_1062delinsAA
        HGVSp: CE52138:p.Trp354Ter
        cDNA_position: 1092-1093
        CDS_position: 1061-1062
        Protein_position: 354
        Exon_number: 8/10
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      C46H11.4e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C46H11.4e.1:c.1208_1209delinsAA
        HGVSp: CE43449:p.Trp403Ter
        cDNA_position: 1208-1209
        CDS_position: 1208-1209
        Protein_position: 403
        Exon_number: 9/10
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      C46H11.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C46H11.4b.1:c.968_969delinsAA
        HGVSp: CE27863:p.Trp323Ter
        cDNA_position: 1113-1114
        CDS_position: 968-969
        Protein_position: 323
        Exon_number: 7/9
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
    Interactor: WBInteraction000519152
      WBInteraction000576763
  Genetics: Interpolated_map_position: I -0.42336
    Mapping_data: In_multi_point: 4474
  Description: Phenotype: WBPhenotype:0000145 Paper_evidence: WBPaper00003017
        Curator_confirmed: WBPerson625
        Remark: suppresses let-23 sterilty (ovulation) Paper_evidence: WBPaper00003017
            Curator_confirmed: WBPerson625
        Phenotype_assay: Genotype: let-23(sy10) Paper_evidence: WBPaper00003017
              Curator_confirmed: WBPerson625
      WBPhenotype:0000154 Paper_evidence: WBPaper00042394
        Curator_confirmed: WBPerson1777
        Remark: Decreased brood size as compared to wildtype Paper_evidence: WBPaper00042394
            Curator_confirmed: WBPerson1777
        Penetrance: Incomplete: Paper_evidence: WBPaper00042394
              Curator_confirmed: WBPerson1777
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00042394
            Curator_confirmed: WBPerson1777
      WBPhenotype:0000666 Paper_evidence: WBPaper00042394
        Curator_confirmed: WBPerson1777
        Remark: Marginally increased intensity of calcium signaling in spermatheca that is variable from animal to animal, which may suggest incomplete penetrance. Paper_evidence: WBPaper00042394
            Curator_confirmed: WBPerson1777
        Penetrance: Incomplete: Paper_evidence: WBPaper00042394
              Curator_confirmed: WBPerson1777
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00042394
            Curator_confirmed: WBPerson1777
    Phenotype_not_observed: WBPhenotype:0000207 Paper_evidence: WBPaper00028479
        Curator_confirmed: WBPerson2987
        Remark: Figure 6A Paper_evidence: WBPaper00028479
            Curator_confirmed: WBPerson2987
      WBPhenotype:0000478 Paper_evidence: WBPaper00028886
        Curator_confirmed: WBPerson48
      WBPhenotype:0000666 Paper_evidence: WBPaper00042394
        Curator_confirmed: WBPerson1777
        Remark: No obvious ovulation or spermatheca transit defects Paper_evidence: WBPaper00042394
            Curator_confirmed: WBPerson1777
        Penetrance: Incomplete: Paper_evidence: WBPaper00042394
              Curator_confirmed: WBPerson1777
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00042394
            Curator_confirmed: WBPerson1777
      WBPhenotype:0000743 Paper_evidence: WBPaper00046355
        Curator_confirmed: WBPerson51
        Remark: Figure 1G Paper_evidence: WBPaper00046355
            Curator_confirmed: WBPerson51
        EQ_annotations: GO_term: GO:0016246 PATO:0000460 Paper_evidence: WBPaper00046355
                Curator_confirmed: WBPerson51
  Reference: WBPaper00028886
    WBPaper00028479
    WBPaper00003017
    WBPaper00042394
    WBPaper00046355
  Method: Substitution_allele