Incidental Mutation 'IGL01643:Pdk1'
ID93583
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdk1
Ensembl Gene ENSMUSG00000006494
Gene Namepyruvate dehydrogenase kinase, isoenzyme 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.280) question?
Stock #IGL01643
Quality Score
Status
Chromosome2
Chromosomal Location71873224-71903858 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71897705 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 370 (D370G)
Ref Sequence ENSEMBL: ENSMUSP00000006669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006669]
Predicted Effect probably damaging
Transcript: ENSMUST00000006669
AA Change: D370G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494
AA Change: D370G

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
Pfam:BCDHK_Adom3 56 218 6.4e-52 PFAM
HATPase_c 266 391 1.82e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156036
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,191,588 R304Q probably damaging Het
Afap1l1 T A 18: 61,751,826 E196V probably damaging Het
Bmp5 A T 9: 75,839,613 D251V probably damaging Het
Ccdc155 A T 7: 45,200,286 M71K probably damaging Het
Ccser1 A G 6: 61,311,855 H334R probably benign Het
Crnkl1 A G 2: 145,931,348 M126T probably damaging Het
Ddrgk1 T C 2: 130,658,294 probably benign Het
Dpy19l4 T C 4: 11,290,184 probably benign Het
Eral1 A G 11: 78,074,278 probably null Het
Ereg T A 5: 91,086,778 S17T probably benign Het
Fgfr1 T A 8: 25,566,735 M280K probably benign Het
Gpr65 A G 12: 98,275,754 E222G probably damaging Het
Grid1 G T 14: 35,323,435 probably null Het
Hspa12b A G 2: 131,142,697 T329A probably damaging Het
Inpp4b A G 8: 82,071,771 I863V probably damaging Het
Krt8 G T 15: 101,997,073 S447Y possibly damaging Het
Lama2 T A 10: 27,070,372 probably benign Het
Lama4 A C 10: 39,056,850 N574T probably benign Het
Lig3 T C 11: 82,798,292 S791P probably damaging Het
Oas2 A T 5: 120,736,187 probably benign Het
Olfr1255 A T 2: 89,816,673 I116F probably damaging Het
Popdc3 T A 10: 45,314,880 I29N probably damaging Het
Rbp3 A T 14: 33,956,836 I914F probably benign Het
Rnf207 C T 4: 152,318,261 probably benign Het
Ryr2 T A 13: 11,692,677 I2825F possibly damaging Het
Slc37a2 A T 9: 37,235,553 probably benign Het
Vps8 T C 16: 21,518,222 V791A possibly damaging Het
Wdr64 T C 1: 175,772,311 L127P probably damaging Het
Whrn T C 4: 63,416,435 T368A possibly damaging Het
Other mutations in Pdk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Pdk1 APN 2 71895779 missense probably benign 0.00
IGL02672:Pdk1 APN 2 71895752 missense probably damaging 1.00
IGL02833:Pdk1 APN 2 71897645 critical splice acceptor site probably null
IGL03271:Pdk1 APN 2 71880030 splice site probably benign
IGL03400:Pdk1 APN 2 71895747 missense probably benign 0.25
R0329:Pdk1 UTSW 2 71895674 splice site probably benign
R0564:Pdk1 UTSW 2 71880039 nonsense probably null
R1653:Pdk1 UTSW 2 71888995 critical splice donor site probably null
R2570:Pdk1 UTSW 2 71873560 missense possibly damaging 0.56
R5137:Pdk1 UTSW 2 71883569 missense possibly damaging 0.90
R5932:Pdk1 UTSW 2 71883416 splice site probably null
R6109:Pdk1 UTSW 2 71883506 missense probably benign 0.23
R7107:Pdk1 UTSW 2 71895741 missense probably benign 0.00
Posted On2013-12-09