Incidental Mutation 'IGL02630:Pdk4'
ID301246
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 #IGL02630
Quality Score
Status
Chromosome6
Chromosomal Location5483351-5496309 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5491671 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 179 (I179K)
Ref Sequence ENSEMBL: ENSMUSP00000019721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019721] [ENSMUST00000203347]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019721
AA Change: I179K

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: I179K

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 possibly damaging
Transcript: ENSMUST00000203347
AA Change: I83K

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145377
Gene: ENSMUSG00000019577
AA Change: I83K

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,012,077 V3575E probably damaging Het
Arfgef3 G A 10: 18,661,392 probably benign Het
Arhgap23 A G 11: 97,454,297 T631A probably benign Het
Chka T A 19: 3,892,112 H355Q possibly damaging Het
Ctsj C T 13: 61,001,400 A277T probably damaging Het
Ddx49 T C 8: 70,301,018 D67G probably damaging Het
Dennd4b T C 3: 90,272,977 S716P probably benign Het
Enpp5 G T 17: 44,082,875 D321Y probably damaging Het
Espl1 A G 15: 102,296,818 E17G probably benign Het
Fam161b G A 12: 84,353,914 P428L probably benign Het
Fbxw7 T C 3: 84,965,279 L256S probably damaging Het
Fgfr2 G T 7: 130,228,795 probably null Het
Foxred2 C T 15: 77,947,162 V484I probably benign Het
Gm4744 T A 6: 40,950,469 probably benign Het
Gm5724 T C 6: 141,723,110 Y532C probably damaging Het
Hipk2 T C 6: 38,818,521 N271S possibly damaging Het
Hist1h3a C T 13: 23,762,248 V36M probably benign Het
Ifna1 A G 4: 88,850,259 D58G possibly damaging Het
Igkv4-80 A T 6: 69,016,696 Y70* probably null Het
Ivns1abp G A 1: 151,359,635 R218H probably damaging Het
Kng1 A T 16: 23,079,845 probably benign Het
Lars T C 18: 42,257,169 D11G probably damaging Het
Lgals12 T C 19: 7,601,242 probably benign Het
Lpar4 T A X: 106,931,211 F334I probably benign Het
Muc5b G A 7: 141,863,231 G3305S probably benign Het
Nalcn T C 14: 123,317,879 D864G probably benign Het
Ndor1 T C 2: 25,255,287 E22G probably damaging Het
Nt5c2 T A 19: 46,924,310 M69L probably benign Het
Olfr1054 T C 2: 86,332,868 I163V probably benign Het
Olfr599 A C 7: 103,338,429 Y125S probably damaging Het
Pde12 A T 14: 26,666,397 H455Q probably damaging Het
Pdia6 A G 12: 17,274,421 H91R probably benign Het
Prl2c1 T C 13: 27,857,497 probably benign Het
Rasgrf2 C T 13: 92,131,392 E35K probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sash1 T A 10: 8,744,535 M454L probably benign Het
Secisbp2 C A 13: 51,678,906 T608K possibly damaging Het
Slmap A G 14: 26,422,431 V750A possibly damaging Het
Spaca6 T A 17: 17,831,089 L9Q probably damaging Het
Sycp1 T C 3: 102,878,764 probably benign Het
Sycp2 A T 2: 178,401,919 D131E probably damaging Het
Tc2n A T 12: 101,693,145 D176E probably damaging Het
Thoc7 T C 14: 13,953,154 I83V probably damaging Het
Trank1 T C 9: 111,373,075 V1590A possibly damaging Het
Tyrp1 T C 4: 80,840,757 V289A possibly damaging Het
Ube2dnl1 T A X: 114,905,786 C119* probably null Het
Vmn1r191 T A 13: 22,179,261 I108F possibly damaging Het
Zfp710 T A 7: 80,082,041 I322N probably damaging Het
Other mutations in Pdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Pdk4 APN 6 5491869 missense probably benign 0.16
IGL01524:Pdk4 APN 6 5491979 missense probably damaging 1.00
IGL01814:Pdk4 APN 6 5491828 critical splice donor site probably null
IGL02136:Pdk4 APN 6 5486715 missense probably damaging 1.00
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
R8782:Pdk4 UTSW 6 5494962 missense possibly damaging 0.95
Z1176:Pdk4 UTSW 6 5487170 missense probably damaging 1.00
Posted On2015-04-16