Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02833:Pdk1'

361550

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdk1

Ensembl Gene

ENSMUSG00000006494

Gene Name

pyruvate dehydrogenase kinase, isoenzyme 1

Synonyms

D530020C15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02833

Quality Score

Status

Chromosome

Chromosomal Location

71703568-71734202 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 71727989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000006669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006669] [ENSMUST00000006669] [ENSMUST00000006669]

AlphaFold

Q8BFP9

Predicted Effect

probably null
Transcript: ENSMUST00000006669

SMART Domains

Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
Pfam:BCDHK_Adom3	56	218	6.4e-52	PFAM
HATPase_c	266	391	1.82e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000006669

SMART Domains

Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
Pfam:BCDHK_Adom3	56	218	6.4e-52	PFAM
HATPase_c	266	391	1.82e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000006669

SMART Domains

Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
Pfam:BCDHK_Adom3	56	218	6.4e-52	PFAM
HATPase_c	266	391	1.82e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156036

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,289,371 (GRCm39)		probably benign	Het
Atr	A	T	9: 95,744,905 (GRCm39)	H74L	probably damaging	Het
Brca2	A	T	5: 150,465,255 (GRCm39)	H1673L	possibly damaging	Het
Brwd1	A	T	16: 95,853,771 (GRCm39)	I495K	probably damaging	Het
Cacna1s	A	T	1: 135,998,743 (GRCm39)	I213F	probably benign	Het
Cds1	T	C	5: 101,962,332 (GRCm39)	S316P	possibly damaging	Het
Ces1b	G	A	8: 93,806,038 (GRCm39)	P68S	probably damaging	Het
Cilp	A	G	9: 65,185,206 (GRCm39)	I434V	probably benign	Het
Csgalnact2	A	G	6: 118,106,229 (GRCm39)	Y30H	probably damaging	Het
Defb7	T	C	8: 19,545,140 (GRCm39)	V6A	probably benign	Het
Dlg2	A	T	7: 92,080,335 (GRCm39)	L841F	probably damaging	Het
Dnajc14	A	G	10: 128,642,468 (GRCm39)	N130S	possibly damaging	Het
Dock7	T	A	4: 98,833,732 (GRCm39)	D1863V	probably damaging	Het
Dsp	A	G	13: 38,376,897 (GRCm39)	R1561G	possibly damaging	Het
Fads2b	G	T	2: 85,332,551 (GRCm39)	R158S	possibly damaging	Het
Gstt4	G	T	10: 75,658,174 (GRCm39)	F28L	probably damaging	Het
Hectd1	G	T	12: 51,810,864 (GRCm39)	D1690E	probably damaging	Het
Hspg2	T	C	4: 137,282,441 (GRCm39)	S3394P	probably benign	Het
Ift25	T	C	4: 107,132,492 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,911,610 (GRCm39)	C1910S	probably damaging	Het
Jakmip2	T	C	18: 43,708,516 (GRCm39)		probably benign	Het
Katnip	A	T	7: 125,449,584 (GRCm39)	R883*	probably null	Het
Kif1b	C	T	4: 149,330,821 (GRCm39)	V612M	probably damaging	Het
Lrrd1	A	G	5: 3,900,709 (GRCm39)	E338G	probably damaging	Het
Mmp9	C	A	2: 164,791,723 (GRCm39)	D205E	probably damaging	Het
Mylk	A	T	16: 34,735,270 (GRCm39)	H750L	probably benign	Het
Naip6	A	G	13: 100,436,121 (GRCm39)	S801P	probably damaging	Het
Nlrp1b	A	T	11: 71,051,998 (GRCm39)	M980K	probably benign	Het
Or14j1	G	A	17: 38,146,831 (GRCm39)	V314I	probably benign	Het
Or2y3	T	C	17: 38,393,243 (GRCm39)	K209E	possibly damaging	Het
Or5d43	C	A	2: 88,104,776 (GRCm39)	V206F	probably benign	Het
Or6c88	A	G	10: 129,406,619 (GRCm39)	T32A	probably benign	Het
Pex7	A	G	10: 19,770,500 (GRCm39)	S125P	probably damaging	Het
Pigu	T	C	2: 155,187,565 (GRCm39)		probably benign	Het
Prr16	T	A	18: 51,436,164 (GRCm39)	H214Q	probably damaging	Het
Psme4	C	T	11: 30,800,715 (GRCm39)		probably benign	Het
Sf3b3	A	G	8: 111,538,609 (GRCm39)		probably null	Het
Sp4	T	C	12: 118,225,616 (GRCm39)	I583V	probably benign	Het
Spata22	A	G	11: 73,234,569 (GRCm39)	T224A	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tmem119	T	A	5: 113,933,432 (GRCm39)	Y123F	probably damaging	Het
Umps	A	T	16: 33,782,523 (GRCm39)	L133*	probably null	Het
Usp46	T	A	5: 74,177,343 (GRCm39)	T179S	probably benign	Het
Vtcn1	T	A	3: 100,795,701 (GRCm39)	Y223N	probably damaging	Het
Wiz	A	G	17: 32,576,853 (GRCm39)	M567T	probably damaging	Het

Other mutations in Pdk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Pdk1	APN	2	71,726,123 (GRCm39)	missense	probably benign	0.00
IGL01643:Pdk1	APN	2	71,728,049 (GRCm39)	missense	probably damaging	1.00
IGL02672:Pdk1	APN	2	71,726,096 (GRCm39)	missense	probably damaging	1.00
IGL03271:Pdk1	APN	2	71,710,374 (GRCm39)	splice site	probably benign
IGL03400:Pdk1	APN	2	71,726,091 (GRCm39)	missense	probably benign	0.25
R0329:Pdk1	UTSW	2	71,726,018 (GRCm39)	splice site	probably benign
R0564:Pdk1	UTSW	2	71,710,383 (GRCm39)	nonsense	probably null
R1653:Pdk1	UTSW	2	71,719,339 (GRCm39)	critical splice donor site	probably null
R2570:Pdk1	UTSW	2	71,703,904 (GRCm39)	missense	possibly damaging	0.56
R5137:Pdk1	UTSW	2	71,713,913 (GRCm39)	missense	possibly damaging	0.90
R5932:Pdk1	UTSW	2	71,713,760 (GRCm39)	splice site	probably null
R6109:Pdk1	UTSW	2	71,713,850 (GRCm39)	missense	probably benign	0.23
R7107:Pdk1	UTSW	2	71,726,085 (GRCm39)	missense	probably benign	0.00
R7227:Pdk1	UTSW	2	71,714,245 (GRCm39)	missense	possibly damaging	0.75
R7663:Pdk1	UTSW	2	71,705,742 (GRCm39)	splice site	probably null
R8011:Pdk1	UTSW	2	71,705,796 (GRCm39)	missense	probably benign	0.05
R9178:Pdk1	UTSW	2	71,730,402 (GRCm39)	missense	probably benign	0.00
RF020:Pdk1	UTSW	2	71,714,240 (GRCm39)	missense	possibly damaging	0.84
RF060:Pdk1	UTSW	2	71,703,789 (GRCm39)	small deletion	probably benign

Posted On

2015-12-18