Incidental Mutation 'IGL03296:Pdk3'
ID 416087
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 # IGL03296
Quality Score
Status
Chromosome X
Chromosomal Location 92808213-92875807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92875503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 19 (Y19C)
Ref Sequence ENSEMBL: ENSMUSP00000036604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045748]
AlphaFold Q922H2
Predicted Effect probably damaging
Transcript: ENSMUST00000045748
AA Change: Y19C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036604
Gene: ENSMUSG00000035232
AA Change: Y19C

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T C 17: 43,632,044 (GRCm39) probably benign Het
Arhgef26 A G 3: 62,330,926 (GRCm39) T547A probably damaging Het
Cdc14a T A 3: 116,090,807 (GRCm39) H375L probably benign Het
Ddx43 T C 9: 78,306,380 (GRCm39) probably null Het
Dennd6a T C 14: 26,338,115 (GRCm39) probably null Het
Dock4 A T 12: 40,783,256 (GRCm39) E730V possibly damaging Het
Gpr55 A G 1: 85,868,753 (GRCm39) L276S probably damaging Het
Grid1 T C 14: 35,302,524 (GRCm39) F930L possibly damaging Het
Inf2 C T 12: 112,570,642 (GRCm39) Q394* probably null Het
Ints11 T C 4: 155,969,780 (GRCm39) probably null Het
Kcnd2 T C 6: 21,714,208 (GRCm39) V397A probably damaging Het
Lmntd1 A G 6: 145,359,203 (GRCm39) F316L probably benign Het
Loxl4 A T 19: 42,587,262 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mindy4 T C 6: 55,274,738 (GRCm39) probably null Het
Mybpc2 A T 7: 44,156,308 (GRCm39) I835N probably damaging Het
Myo5a T C 9: 75,023,484 (GRCm39) I15T probably damaging Het
Nfkb2 A T 19: 46,298,367 (GRCm39) D557V probably damaging Het
Or11g27 A T 14: 50,771,402 (GRCm39) I178L possibly damaging Het
Pdpr G T 8: 111,841,430 (GRCm39) V221F probably damaging Het
Rab6a T C 7: 100,283,931 (GRCm39) Y128H probably benign Het
Rars1 A T 11: 35,707,523 (GRCm39) Y429* probably null Het
Rsl24d1 T C 9: 73,025,229 (GRCm39) probably null Het
Slc7a9 T C 7: 35,151,852 (GRCm39) F49S probably damaging Het
St14 C T 9: 31,020,008 (GRCm39) E34K probably damaging Het
Tcp10b A G 17: 13,292,443 (GRCm39) T289A probably damaging Het
Tenm2 T C 11: 35,942,852 (GRCm39) probably null Het
Tshz3 A T 7: 36,470,761 (GRCm39) T917S probably damaging Het
Vrtn T A 12: 84,695,622 (GRCm39) I124N probably damaging Het
Vwa8 A G 14: 79,420,540 (GRCm39) E1747G probably damaging Het
Wdr33 A T 18: 31,960,444 (GRCm39) Q36L probably benign Het
Xpo5 C T 17: 46,532,320 (GRCm39) R452* probably null Het
Zdhhc8 A T 16: 18,044,587 (GRCm39) L311Q possibly damaging Het
Other mutations in Pdk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03058:Pdk3 APN X 92,845,892 (GRCm39) missense probably benign 0.38
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