Incidental Mutation 'IGL03058:Pdk3'
ID 409345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdk3
Ensembl Gene ENSMUSG00000035232
Gene Name pyruvate dehydrogenase kinase, isoenzyme 3
Synonyms 2610001M10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL03058
Quality Score
Status
Chromosome X
Chromosomal Location 92808213-92875807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92845892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 143 (I143N)
Ref Sequence ENSEMBL: ENSMUSP00000036604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045748]
AlphaFold Q922H2
Predicted Effect probably benign
Transcript: ENSMUST00000045748
AA Change: I143N

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036604
Gene: ENSMUSG00000035232
AA Change: I143N

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 26 188 3.8e-50 PFAM
HATPase_c 236 362 3.32e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,109,112 (GRCm39) V395A probably benign Het
Adck1 A T 12: 88,425,900 (GRCm39) T443S probably benign Het
Axdnd1 G A 1: 156,204,233 (GRCm39) A541V probably benign Het
B020011L13Rik A G 1: 117,710,699 (GRCm39) D35G possibly damaging Het
Bmp3 T G 5: 99,019,953 (GRCm39) I125M probably damaging Het
Cdc40 T C 10: 40,725,824 (GRCm39) E215G probably benign Het
Ces1f A G 8: 93,996,600 (GRCm39) probably null Het
Chd8 A C 14: 52,455,730 (GRCm39) V986G probably damaging Het
Clca4a A T 3: 144,667,595 (GRCm39) probably benign Het
Crhbp T A 13: 95,580,306 (GRCm39) E91V probably damaging Het
Dgkh T A 14: 78,865,237 (GRCm39) H53L probably benign Het
Dnajc1 T C 2: 18,222,132 (GRCm39) D532G possibly damaging Het
Dot1l T C 10: 80,626,831 (GRCm39) S230P probably benign Het
Evi5 C T 5: 107,896,017 (GRCm39) V809M probably damaging Het
Fbn1 T A 2: 125,245,120 (GRCm39) M256L probably benign Het
Fem1al T C 11: 29,774,656 (GRCm39) D267G probably benign Het
Fgfr2 C T 7: 129,784,422 (GRCm39) D292N probably damaging Het
Fmn1 C T 2: 113,272,159 (GRCm39) probably benign Het
Htatsf1 T A X: 56,104,281 (GRCm39) D203E probably damaging Het
Kcnh1 T A 1: 192,117,199 (GRCm39) L51Q probably damaging Het
Lamp5 A T 2: 135,911,047 (GRCm39) H260L probably benign Het
Mindy4 T A 6: 55,285,183 (GRCm39) V659D probably damaging Het
Mkks C A 2: 136,718,090 (GRCm39) L397F probably damaging Het
Ncan G A 8: 70,560,582 (GRCm39) S795F possibly damaging Het
Or13c7d A C 4: 43,770,255 (GRCm39) F252C probably damaging Het
Or9g4 T C 2: 85,505,025 (GRCm39) I157V probably benign Het
Papolg T C 11: 23,845,029 (GRCm39) M4V probably benign Het
Polr2a A T 11: 69,635,873 (GRCm39) probably null Het
Prc1 C T 7: 79,950,873 (GRCm39) T78I probably benign Het
Ret C A 6: 118,152,028 (GRCm39) D569Y probably damaging Het
Samd9l G T 6: 3,374,980 (GRCm39) N760K probably damaging Het
Slc5a12 T A 2: 110,471,137 (GRCm39) S460T probably benign Het
Slco1c1 A G 6: 141,508,913 (GRCm39) I573M probably benign Het
Spata31f1e G A 4: 42,793,764 (GRCm39) L123F probably damaging Het
Steap4 A G 5: 8,025,664 (GRCm39) D75G probably benign Het
Tcf20 A G 15: 82,736,205 (GRCm39) F1749L probably damaging Het
Thbs2 T C 17: 14,910,231 (GRCm39) T123A possibly damaging Het
Tmc3 T C 7: 83,265,094 (GRCm39) S663P possibly damaging Het
Vmn2r121 G T X: 123,042,618 (GRCm39) H180N probably benign Het
Vnn1 T C 10: 23,780,442 (GRCm39) F477L probably benign Het
Xpnpep2 A G X: 47,214,302 (GRCm39) probably null Het
Zfand4 T C 6: 116,265,038 (GRCm39) F168L probably benign Het
Other mutations in Pdk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03296:Pdk3 APN X 92,875,503 (GRCm39) missense probably damaging 1.00
R2231:Pdk3 UTSW X 92,857,604 (GRCm39) missense probably damaging 1.00
R2232:Pdk3 UTSW X 92,857,604 (GRCm39) missense probably damaging 1.00
R4551:Pdk3 UTSW X 92,825,846 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02