Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02630:Pdk4'

301246

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 #

IGL02630

Quality Score

Status

Chromosome

Chromosomal Location

5483351-5496278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5491671 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

O70571

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,441 (GRCm39)	V3575E	probably damaging	Het
Arfgef3	G	A	10: 18,537,140 (GRCm39)		probably benign	Het
Arhgap23	A	G	11: 97,345,123 (GRCm39)	T631A	probably benign	Het
Chka	T	A	19: 3,942,112 (GRCm39)	H355Q	possibly damaging	Het
Ctsj	C	T	13: 61,149,214 (GRCm39)	A277T	probably damaging	Het
Ddx49	T	C	8: 70,753,668 (GRCm39)	D67G	probably damaging	Het
Dennd4b	T	C	3: 90,180,284 (GRCm39)	S716P	probably benign	Het
Enpp5	G	T	17: 44,393,766 (GRCm39)	D321Y	probably damaging	Het
Espl1	A	G	15: 102,205,253 (GRCm39)	E17G	probably benign	Het
Fam161b	G	A	12: 84,400,688 (GRCm39)	P428L	probably benign	Het
Fbxw7	T	C	3: 84,872,586 (GRCm39)	L256S	probably damaging	Het
Fgfr2	G	T	7: 129,830,525 (GRCm39)		probably null	Het
Foxred2	C	T	15: 77,831,362 (GRCm39)	V484I	probably benign	Het
Gm4744	T	A	6: 40,927,403 (GRCm39)		probably benign	Het
H3c1	C	T	13: 23,946,231 (GRCm39)	V36M	probably benign	Het
Hipk2	T	C	6: 38,795,456 (GRCm39)	N271S	possibly damaging	Het
Ifna1	A	G	4: 88,768,496 (GRCm39)	D58G	possibly damaging	Het
Igkv4-80	A	T	6: 68,993,680 (GRCm39)	Y70*	probably null	Het
Ivns1abp	G	A	1: 151,235,386 (GRCm39)	R218H	probably damaging	Het
Kng1	A	T	16: 22,898,595 (GRCm39)		probably benign	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Lgals12	T	C	19: 7,578,607 (GRCm39)		probably benign	Het
Lpar4	T	A	X: 105,974,817 (GRCm39)	F334I	probably benign	Het
Muc5b	G	A	7: 141,416,968 (GRCm39)	G3305S	probably benign	Het
Nalcn	T	C	14: 123,555,291 (GRCm39)	D864G	probably benign	Het
Ndor1	T	C	2: 25,145,299 (GRCm39)	E22G	probably damaging	Het
Nt5c2	T	A	19: 46,912,749 (GRCm39)	M69L	probably benign	Het
Or52ab4	A	C	7: 102,987,636 (GRCm39)	Y125S	probably damaging	Het
Or8k22	T	C	2: 86,163,212 (GRCm39)	I163V	probably benign	Het
Pde12	A	T	14: 26,387,552 (GRCm39)	H455Q	probably damaging	Het
Pdia6	A	G	12: 17,324,422 (GRCm39)	H91R	probably benign	Het
Prl2c1	T	C	13: 28,041,480 (GRCm39)		probably benign	Het
Rasgrf2	C	T	13: 92,267,900 (GRCm39)	E35K	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sash1	T	A	10: 8,620,299 (GRCm39)	M454L	probably benign	Het
Secisbp2	C	A	13: 51,832,942 (GRCm39)	T608K	possibly damaging	Het
Slco1a7	T	C	6: 141,668,836 (GRCm39)	Y532C	probably damaging	Het
Slmap	A	G	14: 26,143,586 (GRCm39)	V750A	possibly damaging	Het
Spaca6	T	A	17: 18,051,351 (GRCm39)	L9Q	probably damaging	Het
Sycp1	T	C	3: 102,786,080 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,712 (GRCm39)	D131E	probably damaging	Het
Tc2n	A	T	12: 101,659,404 (GRCm39)	D176E	probably damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Trank1	T	C	9: 111,202,143 (GRCm39)	V1590A	possibly damaging	Het
Tyrp1	T	C	4: 80,758,994 (GRCm39)	V289A	possibly damaging	Het
Ube2dnl1	T	A	X: 113,815,483 (GRCm39)	C119*	probably null	Het
Vmn1r191	T	A	13: 22,363,431 (GRCm39)	I108F	possibly damaging	Het
Zfp710	T	A	7: 79,731,789 (GRCm39)	I322N	probably damaging	Het

Other mutations in Pdk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2015-04-16