Incidental Mutation 'IGL01524:Pdk4'
ID |
89499 |
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)
|
Stock # |
IGL01524
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
5483351-5496278 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5491979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 31
(H31R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019721]
[ENSMUST00000203347]
|
AlphaFold |
O70571 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019721
AA Change: H127R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000019721 Gene: ENSMUSG00000019577 AA Change: H127R
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 |
probably damaging
Transcript: ENSMUST00000203347
AA Change: H31R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145377 Gene: ENSMUSG00000019577 AA Change: H31R
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
A |
T |
8: 60,969,106 (GRCm39) |
D117V |
probably damaging |
Het |
Abca14 |
T |
C |
7: 119,852,644 (GRCm39) |
Y870H |
possibly damaging |
Het |
Ankrd36 |
T |
C |
11: 5,585,092 (GRCm39) |
I301T |
probably benign |
Het |
Atp10b |
T |
A |
11: 43,150,672 (GRCm39) |
S1457T |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,996,531 (GRCm39) |
D1081G |
possibly damaging |
Het |
Ccdc175 |
G |
A |
12: 72,177,916 (GRCm39) |
|
probably benign |
Het |
Ccdc93 |
A |
G |
1: 121,389,628 (GRCm39) |
K224E |
probably benign |
Het |
Cep131 |
C |
T |
11: 119,956,786 (GRCm39) |
A886T |
probably damaging |
Het |
Clip1 |
A |
C |
5: 123,717,442 (GRCm39) |
H1282Q |
probably damaging |
Het |
Ctcfl |
T |
G |
2: 172,959,177 (GRCm39) |
D183A |
probably benign |
Het |
Cyp17a1 |
C |
T |
19: 46,659,495 (GRCm39) |
V112I |
probably benign |
Het |
Fhod3 |
T |
C |
18: 25,263,659 (GRCm39) |
I1521T |
probably damaging |
Het |
Gipc2 |
A |
G |
3: 151,843,214 (GRCm39) |
I141T |
probably damaging |
Het |
Glo1 |
T |
C |
17: 30,815,393 (GRCm39) |
R141G |
possibly damaging |
Het |
Ipmk |
C |
A |
10: 71,208,631 (GRCm39) |
A140E |
probably damaging |
Het |
Kynu |
A |
G |
2: 43,561,394 (GRCm39) |
D310G |
possibly damaging |
Het |
Myo1f |
T |
A |
17: 33,798,857 (GRCm39) |
I174N |
probably damaging |
Het |
Nat10 |
T |
A |
2: 103,588,102 (GRCm39) |
N8Y |
probably damaging |
Het |
Nhlrc2 |
A |
G |
19: 56,564,587 (GRCm39) |
I304V |
probably benign |
Het |
Sema6d |
T |
C |
2: 124,505,995 (GRCm39) |
V644A |
possibly damaging |
Het |
Slc30a4 |
T |
A |
2: 122,544,308 (GRCm39) |
K11N |
possibly damaging |
Het |
Slc6a3 |
T |
C |
13: 73,686,668 (GRCm39) |
S12P |
probably benign |
Het |
Spats2 |
C |
T |
15: 99,110,127 (GRCm39) |
A508V |
probably benign |
Het |
Tinag |
A |
G |
9: 76,952,820 (GRCm39) |
Y55H |
probably damaging |
Het |
Topbp1 |
T |
C |
9: 103,188,844 (GRCm39) |
I172T |
possibly damaging |
Het |
Trim17 |
A |
G |
11: 58,861,423 (GRCm39) |
T279A |
probably damaging |
Het |
Vmn1r216 |
C |
A |
13: 23,283,519 (GRCm39) |
N67K |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,411,996 (GRCm39) |
L709P |
probably benign |
Het |
Xdh |
T |
C |
17: 74,230,132 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
C |
T |
3: 5,309,036 (GRCm39) |
P754L |
probably damaging |
Het |
Zfp267 |
T |
C |
3: 36,218,729 (GRCm39) |
Y251H |
possibly damaging |
Het |
Zfp623 |
C |
A |
15: 75,819,528 (GRCm39) |
S161R |
probably benign |
Het |
Zmat3 |
G |
A |
3: 32,395,827 (GRCm39) |
R227C |
possibly 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 |
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 |
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 |
2013-12-03 |