Incidental Mutation 'IGL01524:Pdk4'
ID 89499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdk4
Ensembl Gene ENSMUSG00000019577
Gene Name pyruvate dehydrogenase kinase, isoenzyme 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01524
Quality Score
Status
Chromosome 6
Chromosomal Location 5483351-5496278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5491979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 31 (H31R)
Ref Sequence ENSEMBL: ENSMUSP00000145377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019721] [ENSMUST00000203347]
AlphaFold O70571
Predicted Effect probably damaging
Transcript: ENSMUST00000019721
AA Change: H127R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: H127R

DomainStartEndE-ValueType
low complexity region 10 19 N/A INTRINSIC
Pfam:BCDHK_Adom3 34 195 1.2e-51 PFAM
HATPase_c 243 368 2.05e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134068
Predicted Effect probably damaging
Transcript: ENSMUST00000203347
AA Change: H31R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145377
Gene: ENSMUSG00000019577
AA Change: H31R

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 1 99 2.3e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered glucose homoeostasis during starvation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,969,106 (GRCm39) D117V probably damaging Het
Abca14 T C 7: 119,852,644 (GRCm39) Y870H possibly damaging Het
Ankrd36 T C 11: 5,585,092 (GRCm39) I301T probably benign Het
Atp10b T A 11: 43,150,672 (GRCm39) S1457T probably benign Het
Bltp1 A G 3: 36,996,531 (GRCm39) D1081G possibly damaging Het
Ccdc175 G A 12: 72,177,916 (GRCm39) probably benign Het
Ccdc93 A G 1: 121,389,628 (GRCm39) K224E probably benign Het
Cep131 C T 11: 119,956,786 (GRCm39) A886T probably damaging Het
Clip1 A C 5: 123,717,442 (GRCm39) H1282Q probably damaging Het
Ctcfl T G 2: 172,959,177 (GRCm39) D183A probably benign Het
Cyp17a1 C T 19: 46,659,495 (GRCm39) V112I probably benign Het
Fhod3 T C 18: 25,263,659 (GRCm39) I1521T probably damaging Het
Gipc2 A G 3: 151,843,214 (GRCm39) I141T probably damaging Het
Glo1 T C 17: 30,815,393 (GRCm39) R141G possibly damaging Het
Ipmk C A 10: 71,208,631 (GRCm39) A140E probably damaging Het
Kynu A G 2: 43,561,394 (GRCm39) D310G possibly damaging Het
Myo1f T A 17: 33,798,857 (GRCm39) I174N probably damaging Het
Nat10 T A 2: 103,588,102 (GRCm39) N8Y probably damaging Het
Nhlrc2 A G 19: 56,564,587 (GRCm39) I304V probably benign Het
Sema6d T C 2: 124,505,995 (GRCm39) V644A possibly damaging Het
Slc30a4 T A 2: 122,544,308 (GRCm39) K11N possibly damaging Het
Slc6a3 T C 13: 73,686,668 (GRCm39) S12P probably benign Het
Spats2 C T 15: 99,110,127 (GRCm39) A508V probably benign Het
Tinag A G 9: 76,952,820 (GRCm39) Y55H probably damaging Het
Topbp1 T C 9: 103,188,844 (GRCm39) I172T possibly damaging Het
Trim17 A G 11: 58,861,423 (GRCm39) T279A probably damaging Het
Vmn1r216 C A 13: 23,283,519 (GRCm39) N67K probably benign Het
Washc4 T C 10: 83,411,996 (GRCm39) L709P probably benign Het
Xdh T C 17: 74,230,132 (GRCm39) probably null Het
Zfhx4 C T 3: 5,309,036 (GRCm39) P754L probably damaging Het
Zfp267 T C 3: 36,218,729 (GRCm39) Y251H possibly damaging Het
Zfp623 C A 15: 75,819,528 (GRCm39) S161R probably benign Het
Zmat3 G A 3: 32,395,827 (GRCm39) R227C possibly damaging Het
Other mutations in Pdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Pdk4 APN 6 5,491,869 (GRCm39) missense probably benign 0.16
IGL01814:Pdk4 APN 6 5,491,828 (GRCm39) critical splice donor site probably null
IGL02136:Pdk4 APN 6 5,486,715 (GRCm39) missense probably damaging 1.00
IGL02630:Pdk4 APN 6 5,491,671 (GRCm39) missense possibly damaging 0.63
IGL02689:Pdk4 APN 6 5,487,408 (GRCm39) missense probably benign 0.44
R0277:Pdk4 UTSW 6 5,491,620 (GRCm39) missense probably damaging 1.00
R0335:Pdk4 UTSW 6 5,491,138 (GRCm39) missense probably benign 0.00
R0990:Pdk4 UTSW 6 5,485,577 (GRCm39) missense probably benign 0.39
R1792:Pdk4 UTSW 6 5,489,166 (GRCm39) missense probably damaging 1.00
R2043:Pdk4 UTSW 6 5,485,502 (GRCm39) missense probably benign 0.05
R2091:Pdk4 UTSW 6 5,494,857 (GRCm39) intron probably benign
R4074:Pdk4 UTSW 6 5,491,865 (GRCm39) missense probably benign 0.13
R4916:Pdk4 UTSW 6 5,489,157 (GRCm39) missense possibly damaging 0.79
R5414:Pdk4 UTSW 6 5,485,499 (GRCm39) missense probably benign
R5867:Pdk4 UTSW 6 5,487,452 (GRCm39) missense probably benign
R6772:Pdk4 UTSW 6 5,487,141 (GRCm39) missense probably benign
R7146:Pdk4 UTSW 6 5,491,068 (GRCm39) critical splice donor site probably null
R7193:Pdk4 UTSW 6 5,487,089 (GRCm39) missense probably benign
R7774:Pdk4 UTSW 6 5,492,757 (GRCm39) missense possibly damaging 0.50
R7873:Pdk4 UTSW 6 5,487,086 (GRCm39) missense probably benign 0.00
R7995:Pdk4 UTSW 6 5,487,093 (GRCm39) missense probably benign 0.42
R8782:Pdk4 UTSW 6 5,494,962 (GRCm39) missense possibly damaging 0.95
R9483:Pdk4 UTSW 6 5,486,716 (GRCm39) missense probably benign 0.00
R9501:Pdk4 UTSW 6 5,491,084 (GRCm39) missense probably damaging 0.99
R9596:Pdk4 UTSW 6 5,491,842 (GRCm39) missense probably benign
Z1176:Pdk4 UTSW 6 5,487,170 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03