Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03271:Pdk1'

415283

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 #

IGL03271

Quality Score

Status

Chromosome

Chromosomal Location

71703568-71734202 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 71710374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000006669 (fasta)

Gene Model

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

AlphaFold

Q8BFP9

Predicted Effect

probably benign
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: ENSMUST00000129887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152696

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	G	T	13: 111,392,408 (GRCm39)	V248L	probably benign	Het
Actl6b	T	A	5: 137,564,246 (GRCm39)	I256N	probably damaging	Het
Agl	G	T	3: 116,572,776 (GRCm39)	T825K	probably benign	Het
Arid5b	A	T	10: 67,933,287 (GRCm39)	S629T	possibly damaging	Het
Atp13a2	T	C	4: 140,727,708 (GRCm39)	I495T	possibly damaging	Het
Bcl6	G	T	16: 23,788,756 (GRCm39)	H537Q	probably benign	Het
Cdh12	A	G	15: 21,586,539 (GRCm39)	E786G	probably benign	Het
Cep290	T	A	10: 100,373,663 (GRCm39)	N1307K	probably benign	Het
Cops3	A	T	11: 59,723,889 (GRCm39)	N89K	probably damaging	Het
Cyp4a29	T	C	4: 115,111,705 (GRCm39)	V494A	probably damaging	Het
Dlg1	A	G	16: 31,676,710 (GRCm39)	H675R	possibly damaging	Het
Dnajc6	T	A	4: 101,365,274 (GRCm39)		probably benign	Het
Dock10	C	A	1: 80,483,126 (GRCm39)	K2107N	probably damaging	Het
Dop1a	T	A	9: 86,386,275 (GRCm39)	L382*	probably null	Het
Faxc	A	C	4: 21,948,757 (GRCm39)	K156N	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gapvd1	C	A	2: 34,617,219 (GRCm39)		probably benign	Het
Gfm1	T	C	3: 67,382,076 (GRCm39)	Y717H	probably damaging	Het
Gm4884	A	T	7: 40,692,699 (GRCm39)	T223S	probably benign	Het
Gstm3	C	A	3: 107,873,513 (GRCm39)	V153F	possibly damaging	Het
H2-M10.5	G	T	17: 37,084,243 (GRCm39)	L68F	possibly damaging	Het
Hmcn1	G	T	1: 150,474,175 (GRCm39)	H4756N	possibly damaging	Het
Ift140	C	A	17: 25,306,880 (GRCm39)	R872S	probably damaging	Het
Lars2	T	A	9: 123,288,549 (GRCm39)		probably null	Het
Ltbp4	A	G	7: 27,029,240 (GRCm39)	V149A	unknown	Het
Mpp2	A	T	11: 101,954,249 (GRCm39)		probably benign	Het
Mybbp1a	A	G	11: 72,334,744 (GRCm39)		probably benign	Het
Nxpe4	C	A	9: 48,304,345 (GRCm39)	P144Q	probably damaging	Het
Or13p3	T	A	4: 118,566,982 (GRCm39)	I126N	probably damaging	Het
Or5p6	C	T	7: 107,630,714 (GRCm39)	V279M	probably damaging	Het
Parp4	C	A	14: 56,823,082 (GRCm39)	N67K	probably benign	Het
Phip	A	T	9: 82,766,877 (GRCm39)		probably benign	Het
Pls1	A	G	9: 95,658,883 (GRCm39)	S202P	probably benign	Het
Pmpcb	A	G	5: 21,943,874 (GRCm39)	Y36C	probably benign	Het
Pole	T	C	5: 110,466,185 (GRCm39)	S1296P	probably benign	Het
Ptpn13	T	C	5: 103,610,014 (GRCm39)	S4P	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sec61a2	A	T	2: 5,887,745 (GRCm39)	L79*	probably null	Het
Slc2a5	T	C	4: 150,220,040 (GRCm39)	L152P	probably damaging	Het
Smu1	C	T	4: 40,738,408 (GRCm39)	G442D	probably benign	Het
Spag16	T	A	1: 69,892,511 (GRCm39)	N97K	probably benign	Het
Spag6l	C	T	16: 16,598,592 (GRCm39)	D300N	probably damaging	Het
Sult3a1	A	G	10: 33,739,997 (GRCm39)	T19A	probably benign	Het
Ttll6	A	G	11: 96,047,513 (GRCm39)	H704R	probably benign	Het
Uba1	T	A	X: 20,541,956 (GRCm39)	D569E	probably damaging	Het
Umodl1	T	A	17: 31,205,473 (GRCm39)	Y689*	probably null	Het
Unc80	A	G	1: 66,734,762 (GRCm39)		probably benign	Het
Utp15	C	A	13: 98,390,202 (GRCm39)	V282F	probably damaging	Het
Vmn1r184	A	G	7: 25,967,034 (GRCm39)	Y260C	probably benign	Het
Vmn1r69	A	G	7: 10,314,596 (GRCm39)	V45A	probably benign	Het
Vmn2r4	C	A	3: 64,305,850 (GRCm39)	R524L	probably benign	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
IGL02833:Pdk1	APN	2	71,727,989 (GRCm39)	critical splice acceptor site	probably null
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

2016-08-02