Incidental Mutation 'IGL01524:Pdk4'
ID89499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdk4
Ensembl Gene ENSMUSG00000019577
Gene Namepyruvate dehydrogenase kinase, isoenzyme 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01524
Quality Score
Status
Chromosome6
Chromosomal Location5483351-5496309 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5491979 bp
ZygosityHeterozygous
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]
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
4932438A13Rik A G 3: 36,942,382 D1081G possibly damaging Het
Aadat A T 8: 60,516,072 D117V probably damaging Het
Abca14 T C 7: 120,253,421 Y870H possibly damaging Het
Ankrd36 T C 11: 5,635,092 I301T probably benign Het
Atp10b T A 11: 43,259,845 S1457T probably benign Het
Ccdc175 G A 12: 72,131,142 probably benign Het
Ccdc93 A G 1: 121,461,899 K224E probably benign Het
Cep131 C T 11: 120,065,960 A886T probably damaging Het
Clip1 A C 5: 123,579,379 H1282Q probably damaging Het
Ctcfl T G 2: 173,117,384 D183A probably benign Het
Cyp17a1 C T 19: 46,671,056 V112I probably benign Het
D3Ertd254e T C 3: 36,164,580 Y251H possibly damaging Het
Fhod3 T C 18: 25,130,602 I1521T probably damaging Het
Gipc2 A G 3: 152,137,577 I141T probably damaging Het
Glo1 T C 17: 30,596,419 R141G possibly damaging Het
Ipmk C A 10: 71,372,801 A140E probably damaging Het
Kynu A G 2: 43,671,382 D310G possibly damaging Het
Myo1f T A 17: 33,579,883 I174N probably damaging Het
Nat10 T A 2: 103,757,757 N8Y probably damaging Het
Nhlrc2 A G 19: 56,576,155 I304V probably benign Het
Sema6d T C 2: 124,664,075 V644A possibly damaging Het
Slc30a4 T A 2: 122,702,388 K11N possibly damaging Het
Slc6a3 T C 13: 73,538,549 S12P probably benign Het
Spats2 C T 15: 99,212,246 A508V probably benign Het
Tinag A G 9: 77,045,538 Y55H probably damaging Het
Topbp1 T C 9: 103,311,645 I172T possibly damaging Het
Trim17 A G 11: 58,970,597 T279A probably damaging Het
Vmn1r216 C A 13: 23,099,349 N67K probably benign Het
Washc4 T C 10: 83,576,132 L709P probably benign Het
Xdh T C 17: 73,923,137 probably null Het
Zfhx4 C T 3: 5,243,976 P754L probably damaging Het
Zfp623 C A 15: 75,947,679 S161R probably benign Het
Zmat3 G A 3: 32,341,678 R227C possibly damaging Het
Other mutations in Pdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Pdk4 APN 6 5491869 missense probably benign 0.16
IGL01814:Pdk4 APN 6 5491828 critical splice donor site probably null
IGL02136:Pdk4 APN 6 5486715 missense probably damaging 1.00
IGL02630:Pdk4 APN 6 5491671 missense possibly damaging 0.63
IGL02689:Pdk4 APN 6 5487408 missense probably benign 0.44
R0277:Pdk4 UTSW 6 5491620 missense probably damaging 1.00
R0335:Pdk4 UTSW 6 5491138 missense probably benign 0.00
R0990:Pdk4 UTSW 6 5485577 missense probably benign 0.39
R1792:Pdk4 UTSW 6 5489166 missense probably damaging 1.00
R2043:Pdk4 UTSW 6 5485502 missense probably benign 0.05
R2091:Pdk4 UTSW 6 5494857 intron probably benign
R4074:Pdk4 UTSW 6 5491865 missense probably benign 0.13
R4916:Pdk4 UTSW 6 5489157 missense possibly damaging 0.79
R5414:Pdk4 UTSW 6 5485499 missense probably benign
R5867:Pdk4 UTSW 6 5487452 missense probably benign
R6772:Pdk4 UTSW 6 5487141 missense probably benign
R7146:Pdk4 UTSW 6 5491068 critical splice donor site probably null
R7193:Pdk4 UTSW 6 5487089 missense probably benign
R7774:Pdk4 UTSW 6 5492757 missense possibly damaging 0.50
R7873:Pdk4 UTSW 6 5487086 missense probably benign 0.00
R7995:Pdk4 UTSW 6 5487093 missense probably benign 0.42
Z1176:Pdk4 UTSW 6 5487170 missense probably damaging 1.00
Posted On2013-12-03