Incidental Mutation 'IGL01814:Pdk4'
ID 154366
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 # IGL01814
Quality Score
Status
Chromosome 6
Chromosomal Location 5483351-5496278 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 5491828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019721] [ENSMUST00000203347]
AlphaFold O70571
Predicted Effect probably null
Transcript: ENSMUST00000019721
SMART Domains Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577

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 null
Transcript: ENSMUST00000203347
SMART Domains Protein: ENSMUSP00000145377
Gene: ENSMUSG00000019577

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 T A 18: 67,538,544 (GRCm39) N738I probably benign Het
B3galnt2 A G 13: 14,161,938 (GRCm39) S1G probably damaging Het
Btbd9 T C 17: 30,518,509 (GRCm39) I484V probably benign Het
Chd6 T C 2: 160,901,849 (GRCm39) K8R probably benign Het
Csmd1 A C 8: 16,551,389 (GRCm39) L279R probably damaging Het
Dmxl1 G T 18: 49,997,935 (GRCm39) V708F probably damaging Het
Dnajc24 C T 2: 105,811,429 (GRCm39) G49R probably benign Het
Dnhd1 T C 7: 105,301,237 (GRCm39) M198T probably benign Het
Dtx3l T A 16: 35,751,872 (GRCm39) D683V probably benign Het
Duox1 A G 2: 122,176,753 (GRCm39) T1425A probably damaging Het
Enpp3 G A 10: 24,667,923 (GRCm39) P510S possibly damaging Het
Iars2 G T 1: 185,034,972 (GRCm39) Y590* probably null Het
Itgb7 T C 15: 102,131,852 (GRCm39) R244G possibly damaging Het
Itpr2 T A 6: 146,134,044 (GRCm39) R1820S probably benign Het
Matn3 T C 12: 9,002,091 (GRCm39) V101A probably damaging Het
Neurod1 C T 2: 79,285,003 (GRCm39) V127M probably damaging Het
Or56a5 T C 7: 104,792,811 (GRCm39) I236V possibly damaging Het
Or9i1b T A 19: 13,896,892 (GRCm39) C169* probably null Het
Pde10a A G 17: 9,147,939 (GRCm39) M1V probably null Het
Ptchd4 A T 17: 42,814,177 (GRCm39) I693F possibly damaging Het
Scml4 C T 10: 42,811,041 (GRCm39) R194C probably damaging Het
Slc24a4 T C 12: 102,220,877 (GRCm39) V436A probably benign Het
Slc9a3 C A 13: 74,314,091 (GRCm39) R800S probably damaging Het
Smchd1 C A 17: 71,685,182 (GRCm39) M1415I probably benign Het
Syndig1 T A 2: 149,741,690 (GRCm39) I92N probably damaging Het
Tchhl1 T C 3: 93,377,656 (GRCm39) V120A possibly damaging Het
Thumpd3 C T 6: 113,040,112 (GRCm39) T332I possibly damaging Het
Tmem101 G A 11: 102,044,284 (GRCm39) T201M possibly damaging Het
Trip11 T C 12: 101,850,747 (GRCm39) T1106A probably damaging Het
Ttc41 C T 10: 86,566,890 (GRCm39) R519C probably damaging Het
Xirp1 T A 9: 119,846,985 (GRCm39) M633L probably damaging Het
Zfp938 A T 10: 82,062,052 (GRCm39) D189E probably benign Het
Other mutations in Pdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Pdk4 APN 6 5,491,869 (GRCm39) missense probably benign 0.16
IGL01524:Pdk4 APN 6 5,491,979 (GRCm39) missense probably damaging 1.00
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 2014-02-04