Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01409:Pdk1'

79933

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 #

IGL01409

Quality Score

Status

Chromosome

Chromosomal Location

71703568-71734202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71726123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 344 (T344A)

Ref Sequence

ENSEMBL: ENSMUSP00000006669 (fasta)

Gene Model

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

AlphaFold

Q8BFP9

Predicted Effect

probably benign
Transcript: ENSMUST00000006669
AA Change: T344A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494
AA Change: T344A

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	C	T	10: 85,494,029 (GRCm39)	A1049V	possibly damaging	Het
Arhgap26	C	T	18: 39,243,504 (GRCm39)		probably benign	Het
Asxl1	T	C	2: 153,234,860 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,410,471 (GRCm39)	V1037E	probably benign	Het
Bmp6	A	G	13: 38,669,865 (GRCm39)	N383S	probably damaging	Het
Btf3l4	A	C	4: 108,676,394 (GRCm39)	S103R	probably damaging	Het
Cadps2	T	C	6: 23,587,440 (GRCm39)	D321G	probably damaging	Het
Col24a1	G	A	3: 145,244,319 (GRCm39)	S1531N	probably benign	Het
Cpb1	T	A	3: 20,303,969 (GRCm39)	Y365F	possibly damaging	Het
Dpp6	T	C	5: 27,762,599 (GRCm39)	Y238H	probably damaging	Het
Epha6	G	A	16: 59,476,100 (GRCm39)	R1089*	probably null	Het
Fga	T	C	3: 82,940,059 (GRCm39)	F571S	probably damaging	Het
Focad	A	G	4: 88,260,542 (GRCm39)	T933A	unknown	Het
Gm57858	T	A	3: 36,080,077 (GRCm39)	M227L	possibly damaging	Het
Gria2	A	G	3: 80,615,004 (GRCm39)		probably null	Het
Hnrnpul1	T	C	7: 25,424,077 (GRCm39)	N725S	unknown	Het
Ik	A	T	18: 36,889,974 (GRCm39)	K534N	probably damaging	Het
Itga8	T	C	2: 12,196,525 (GRCm39)	T631A	probably benign	Het
Kcnip1	G	T	11: 33,580,593 (GRCm39)	D214E	probably benign	Het
Kcnk10	A	T	12: 98,456,322 (GRCm39)	Y170N	probably damaging	Het
Lalba	A	G	15: 98,379,948 (GRCm39)		probably null	Het
Ly75	A	T	2: 60,152,036 (GRCm39)		probably null	Het
Myh10	T	C	11: 68,698,045 (GRCm39)	L1629P	probably damaging	Het
Myo15b	C	A	11: 115,760,330 (GRCm39)	C1127*	probably null	Het
Neurl4	T	G	11: 69,797,925 (GRCm39)	N728K	probably damaging	Het
Nrxn3	T	A	12: 89,477,128 (GRCm39)	F801Y	probably damaging	Het
Nup214	G	T	2: 31,916,943 (GRCm39)		probably null	Het
Obscn	G	A	11: 58,921,884 (GRCm39)	R6624C	probably damaging	Het
Or2g1	T	C	17: 38,106,413 (GRCm39)	F26S	probably damaging	Het
Pitx2	C	A	3: 129,008,413 (GRCm39)	S63Y	probably damaging	Het
Ppara	A	C	15: 85,661,844 (GRCm39)	L28F	probably damaging	Het
Rad54l	G	A	4: 115,963,074 (GRCm39)	T308I	probably damaging	Het
Sbds	T	C	5: 130,282,907 (GRCm39)	E7G	probably damaging	Het
Slc22a19	T	C	19: 7,688,495 (GRCm39)	I22V	probably benign	Het
Slfn10-ps	T	C	11: 82,926,322 (GRCm39)		noncoding transcript	Het
Spag4	T	C	2: 155,911,252 (GRCm39)	S396P	possibly damaging	Het
Spef2	C	A	15: 9,716,499 (GRCm39)	L362F	probably damaging	Het
Srebf2	A	G	15: 82,055,419 (GRCm39)	T208A	probably damaging	Het
Ssc5d	A	G	7: 4,945,808 (GRCm39)	T947A	probably benign	Het
Tdp1	T	C	12: 99,875,940 (GRCm39)	I297T	possibly damaging	Het
Tent5c	A	T	3: 100,380,485 (GRCm39)	D90E	probably damaging	Het
Tsen2	T	C	6: 115,536,555 (GRCm39)	Y104H	possibly damaging	Het
Was	G	A	X: 7,954,055 (GRCm39)	R229C	probably damaging	Het

Other mutations in Pdk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-11-05