Incidental Mutation 'IGL01643:Pdk1'
ID 93583
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdk1
Ensembl Gene ENSMUSG00000006494
Gene Name pyruvate dehydrogenase kinase, isoenzyme 1
Synonyms D530020C15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01643
Quality Score
Status
Chromosome 2
Chromosomal Location 71703568-71734202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71728049 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BFP9
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: 72,082,414 (GRCm39) R304Q probably damaging Het
Afap1l1 T A 18: 61,884,897 (GRCm39) E196V probably damaging Het
Bmp5 A T 9: 75,746,895 (GRCm39) D251V probably damaging Het
Ccser1 A G 6: 61,288,839 (GRCm39) H334R probably benign Het
Crnkl1 A G 2: 145,773,268 (GRCm39) M126T probably damaging Het
Ddrgk1 T C 2: 130,500,214 (GRCm39) probably benign Het
Dpy19l4 T C 4: 11,290,184 (GRCm39) probably benign Het
Eral1 A G 11: 77,965,104 (GRCm39) probably null Het
Ereg T A 5: 91,234,637 (GRCm39) S17T probably benign Het
Fgfr1 T A 8: 26,056,751 (GRCm39) M280K probably benign Het
Gpr65 A G 12: 98,242,013 (GRCm39) E222G probably damaging Het
Grid1 G T 14: 35,045,392 (GRCm39) probably null Het
Hspa12b A G 2: 130,984,617 (GRCm39) T329A probably damaging Het
Inpp4b A G 8: 82,798,400 (GRCm39) I863V probably damaging Het
Kash5 A T 7: 44,849,710 (GRCm39) M71K probably damaging Het
Krt8 G T 15: 101,905,508 (GRCm39) S447Y possibly damaging Het
Lama2 T A 10: 26,946,368 (GRCm39) probably benign Het
Lama4 A C 10: 38,932,846 (GRCm39) N574T probably benign Het
Lig3 T C 11: 82,689,118 (GRCm39) S791P probably damaging Het
Oas2 A T 5: 120,874,252 (GRCm39) probably benign Het
Or4c12b A T 2: 89,647,017 (GRCm39) I116F probably damaging Het
Popdc3 T A 10: 45,190,976 (GRCm39) I29N probably damaging Het
Rbp3 A T 14: 33,678,793 (GRCm39) I914F probably benign Het
Rnf207 C T 4: 152,402,718 (GRCm39) probably benign Het
Ryr2 T A 13: 11,707,563 (GRCm39) I2825F possibly damaging Het
Slc37a2 A T 9: 37,146,849 (GRCm39) probably benign Het
Vps8 T C 16: 21,336,972 (GRCm39) V791A possibly damaging Het
Wdr64 T C 1: 175,599,877 (GRCm39) L127P probably damaging Het
Whrn T C 4: 63,334,672 (GRCm39) T368A possibly damaging Het
Other mutations in Pdk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Pdk1 APN 2 71,726,123 (GRCm39) missense probably benign 0.00
IGL02672:Pdk1 APN 2 71,726,096 (GRCm39) missense probably damaging 1.00
IGL02833:Pdk1 APN 2 71,727,989 (GRCm39) critical splice acceptor site probably null
IGL03271:Pdk1 APN 2 71,710,374 (GRCm39) splice site probably benign
IGL03400:Pdk1 APN 2 71,726,091 (GRCm39) missense probably benign 0.25
R0329:Pdk1 UTSW 2 71,726,018 (GRCm39) splice site probably benign
R0564:Pdk1 UTSW 2 71,710,383 (GRCm39) nonsense probably null
R1653:Pdk1 UTSW 2 71,719,339 (GRCm39) critical splice donor site probably null
R2570:Pdk1 UTSW 2 71,703,904 (GRCm39) missense possibly damaging 0.56
R5137:Pdk1 UTSW 2 71,713,913 (GRCm39) missense possibly damaging 0.90
R5932:Pdk1 UTSW 2 71,713,760 (GRCm39) splice site probably null
R6109:Pdk1 UTSW 2 71,713,850 (GRCm39) missense probably benign 0.23
R7107:Pdk1 UTSW 2 71,726,085 (GRCm39) missense probably benign 0.00
R7227:Pdk1 UTSW 2 71,714,245 (GRCm39) missense possibly damaging 0.75
R7663:Pdk1 UTSW 2 71,705,742 (GRCm39) splice site probably null
R8011:Pdk1 UTSW 2 71,705,796 (GRCm39) missense probably benign 0.05
R9178:Pdk1 UTSW 2 71,730,402 (GRCm39) missense probably benign 0.00
RF020:Pdk1 UTSW 2 71,714,240 (GRCm39) missense possibly damaging 0.84
RF060:Pdk1 UTSW 2 71,703,789 (GRCm39) small deletion probably benign
Posted On 2013-12-09