Incidental Mutation 'R6772:Pdk4'
| ID |
532206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdk4
|
| Ensembl Gene |
ENSMUSG00000019577 |
| Gene Name |
pyruvate dehydrogenase kinase, isoenzyme 4 |
| Synonyms |
|
| MMRRC Submission |
044888-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
5483351-5496278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5487141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 302
(I302V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019721]
[ENSMUST00000203347]
|
| AlphaFold |
O70571 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019721
AA Change: I302V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: I302V
| 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 |
probably benign
Transcript: ENSMUST00000203347
|
| SMART Domains |
Protein: ENSMUSP00000145377
Gene: ENSMUSG00000019577
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCDHK_Adom3
|
1 |
99 |
2.3e-25 |
PFAM |
|
| Meta Mutation Damage Score |
0.0785 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
97% (36/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
| Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
| Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
| Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
| Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
| Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
| Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
| Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
| Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
| Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
| Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
| Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
| Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
| Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGTGCCTACTTAGCTAAGTC -3'
(R):5'- ATCAAGGTGACTGCTCCCTG -3'
Sequencing Primer
(F):5'- GAGCTGTATCATTGGCCTT -3'
(R):5'- TCGATAATGACATGGGGCATCTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation