WormBase Tree Display for Variation: WBVar00145452

WBVar00145452 Evidence: Paper_evidence: WBPaper00035199
  Name: Public_name: gg98
    Other_name: gg098
      R09A1.1d.1:c.34_188del
      CE30106:p.Thr823ArgfsTer6
      CE50770:p.Thr416ArgfsTer6
      CE50813:p.Thr135ArgfsTer6
      R09A1.1b.1:c.1246_1400del
      R09A1.1a.1:c.2467_2621del
      R09A1.1c.1:c.403_557del
      CE50888:p.Thr12ArgfsTer6
    HGVSg: CHROMOSOME_V:g.1016434_1016588del
  Sequence_details: SMap: S_parent: Sequence: R09A1
    Flanking_sequences: ggtggaaaaagtgctcggaaaagtcggaacc cgtcgtcggaaatattgatctagatgtcacc
    Mapping_target: R09A1
    Type_of_mutation: Deletion: ACTCATCGCAAGCTTGAACGCGGCGGAGCTCACAAGACATGGACAATTTTCACAGATCCCGCCAAGCCAACGCTAGTTCTCGGAATCGACGTTTCTCATCCATCGACTCGTGATCGTGAGACTGGTAATGTACTTCAGAAAATGTCTGCAGCGAC
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00040758
    Laboratory: YY
    Status: Live
  Affects: Gene: WBGene00019971
    Transcript: R09A1.1d.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: R09A1.1d.1:c.34_188del
        HGVSp: CE50888:p.Thr12ArgfsTer6
        cDNA_position: 34-188
        CDS_position: 34-188
        Protein_position: 12-63
        Exon_number: 1/2
        Codon_change: ACTCATCGCAAGCTTGAACGCGGCGGAGCTCACAAGACATGGACAATTTTCACAGATCCCGCCAAGCCAACGCTAGTTCTCGGAATCGACGTTTCTCATCCATCGACTCGTGATCGTGAGACTGGTAATGTACTTCAGAAAATGTCTGCAGCGACc/c
        Amino_acid_change: THRKLERGGAHKTWTIFTDPAKPTLVLGIDVSHPSTRDRETGNVLQKMSAAT/X
      R09A1.1b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: R09A1.1b.1:c.1246_1400del
        HGVSp: CE50770:p.Thr416ArgfsTer6
        cDNA_position: 1246-1400
        CDS_position: 1246-1400
        Protein_position: 416-467
        Exon_number: 4/5
        Codon_change: ACTCATCGCAAGCTTGAACGCGGCGGAGCTCACAAGACATGGACAATTTTCACAGATCCCGCCAAGCCAACGCTAGTTCTCGGAATCGACGTTTCTCATCCATCGACTCGTGATCGTGAGACTGGTAATGTACTTCAGAAAATGTCTGCAGCGACc/c
        Amino_acid_change: THRKLERGGAHKTWTIFTDPAKPTLVLGIDVSHPSTRDRETGNVLQKMSAAT/X
      R09A1.1c.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: R09A1.1c.1:c.403_557del
        HGVSp: CE50813:p.Thr135ArgfsTer6
        cDNA_position: 403-557
        CDS_position: 403-557
        Protein_position: 135-186
        Exon_number: 3/4
        Codon_change: ACTCATCGCAAGCTTGAACGCGGCGGAGCTCACAAGACATGGACAATTTTCACAGATCCCGCCAAGCCAACGCTAGTTCTCGGAATCGACGTTTCTCATCCATCGACTCGTGATCGTGAGACTGGTAATGTACTTCAGAAAATGTCTGCAGCGACc/c
        Amino_acid_change: THRKLERGGAHKTWTIFTDPAKPTLVLGIDVSHPSTRDRETGNVLQKMSAAT/X
      R09A1.1a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: R09A1.1a.1:c.2467_2621del
        HGVSp: CE30106:p.Thr823ArgfsTer6
        cDNA_position: 2477-2631
        CDS_position: 2467-2621
        Protein_position: 823-874
        Exon_number: 7/9
        Codon_change: ACTCATCGCAAGCTTGAACGCGGCGGAGCTCACAAGACATGGACAATTTTCACAGATCCCGCCAAGCCAACGCTAGTTCTCGGAATCGACGTTTCTCATCCATCGACTCGTGATCGTGAGACTGGTAATGTACTTCAGAAAATGTCTGCAGCGACc/c
        Amino_acid_change: THRKLERGGAHKTWTIFTDPAKPTLVLGIDVSHPSTRDRETGNVLQKMSAAT/X
  Genetics: Interpolated_map_position: V -19.8709
  Description: Phenotype: WBPhenotype:0000136 Paper_evidence: WBPaper00035199
        Curator_confirmed: WBPerson712
        Remark: mRNA levels of siRNA target genes are increased compared to control animals; however ssp-16 (sperm-specific) endo siRNA target mRNA was not increased, defining this gene as a class II Eri factor. Paper_evidence: WBPaper00035199
            Curator_confirmed: WBPerson712
      WBPhenotype:0001258 Paper_evidence: WBPaper00035199
        Curator_confirmed: WBPerson712
      WBPhenotype:0001776 Paper_evidence: WBPaper00035199
        Curator_confirmed: WBPerson712
        Remark: Animals fail to express endo siRNAs. Paper_evidence: WBPaper00035199
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000154 Paper_evidence: WBPaper00035199
        Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00035199
        Curator_confirmed: WBPerson712
        Remark: Animals are not sterile, even at higher temperatures. Paper_evidence: WBPaper00035199
            Curator_confirmed: WBPerson712
      WBPhenotype:0000812 Paper_evidence: WBPaper00035199
        Curator_confirmed: WBPerson712
      WBPhenotype:0001175 Paper_evidence: WBPaper00035199
        Curator_confirmed: WBPerson712
      WBPhenotype:0001759 Paper_evidence: WBPaper00035199
        Curator_confirmed: WBPerson712
        Remark: Animals retain the ability to express this class of small regulatory RNAs. Paper_evidence: WBPaper00035199
            Curator_confirmed: WBPerson712
      WBPhenotype:0001779 Paper_evidence: WBPaper00035199
        Curator_confirmed: WBPerson712
        Remark: Animals retain the ability to express this class of small regulatory RNAs. Paper_evidence: WBPaper00035199
            Curator_confirmed: WBPerson712
  Reference: WBPaper00035199
  Remark: The mutation is a 155bp deletion in exon 6. Person_evidence: WBPerson315
  Method: Deletion_allele