WormBase Tree Display for Variation: WBVar00088972

WBVar00088972 Evidence: Paper_evidence: WBPaper00032936
  Name: Public_name: mg456
    Other_name: W10G6.2a.1:c.877C>T
      CE39528:p.Pro303Ser
      CE39527:p.Pro293Ser
      W10G6.2a.2:c.877C>T
      W10G6.2b.1:c.907C>T
    HGVSg: CHROMOSOME_X:g.16257543G>A
  Sequence_details: SMap: S_parent: Sequence: W10G6
    Flanking_sequences: cacattttgtgggacgccggagtacttggcc cggaaattattctgaaaaagccttacgacaa
    Mapping_target: W10G6
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00032936
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: GR
    Status: Live
  Affects: Gene: WBGene00004789
    Transcript: W10G6.2b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W10G6.2b.1:c.907C>T
        HGVSp: CE39528:p.Pro303Ser
        cDNA_position: 907
        CDS_position: 907
        Protein_position: 303
        Exon_number: 9/11
        Codon_change: Ccg/Tcg
        Amino_acid_change: P/S
      W10G6.2a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W10G6.2a.1:c.877C>T
        HGVSp: CE39527:p.Pro293Ser
        cDNA_position: 978
        CDS_position: 877
        Protein_position: 293
        Exon_number: 10/13
        Codon_change: Ccg/Tcg
        Amino_acid_change: P/S
      W10G6.2a.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W10G6.2a.2:c.877C>T
        HGVSp: CE39527:p.Pro293Ser
        cDNA_position: 885
        CDS_position: 877
        Protein_position: 293
        Exon_number: 9/12
        Codon_change: Ccg/Tcg
        Amino_acid_change: P/S
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: X 23.6985
  Description: Phenotype: WBPhenotype:0000031 Paper_evidence: WBPaper00032936
        Curator_confirmed: WBPerson2021
        Remark: sgk-1 mutants are slow growing Paper_evidence: WBPaper00032936
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000154 Paper_evidence: WBPaper00032936
        Curator_confirmed: WBPerson2021
        Remark: sgk-1 mutants have decreased brood size Paper_evidence: WBPaper00032936
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000229 Paper_evidence: WBPaper00032936
        Curator_confirmed: WBPerson2021
        Remark: sgk-1 mutants have decreased body size Paper_evidence: WBPaper00032936
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00032936
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001171 Paper_evidence: WBPaper00032936
        Curator_confirmed: WBPerson2021
        Remark: sgk-1 mutants display a shortened life span Paper_evidence: WBPaper00032936
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001184 Paper_evidence: WBPaper00032936
        Curator_confirmed: WBPerson2021
        Remark: Elevated BODIPY staining on OP50. The fat mass as assessed by Oil-Red-O staining in sgk-1 was not increased as greatly as in rict-1 mutants Paper_evidence: WBPaper00032936
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00032936
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Staining with BODIPY-labeled fatty acid vital dye and Oil-Red-O Paper_evidence: WBPaper00032936
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00032936
  Method: Substitution_allele