Incidental Mutation 'IGL01337:Pdk4'
| ID |
74659 |
| 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 # |
IGL01337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
5483351-5496278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5491869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 68
(M68L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019721]
[ENSMUST00000203347]
|
| AlphaFold |
O70571 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019721
AA Change: M164L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: M164L
| 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 benign
Transcript: ENSMUST00000203347
AA Change: M68L
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000145377
Gene: ENSMUSG00000019577
AA Change: M68L
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,645,529 (GRCm39) |
Y1025H |
probably damaging |
Het |
| Adarb2 |
T |
C |
13: 8,620,282 (GRCm39) |
L256P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,158,763 (GRCm39) |
Y114C |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,192,700 (GRCm39) |
P1378L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,800,939 (GRCm39) |
Y138C |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,376,663 (GRCm39) |
D1483N |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,198 (GRCm39) |
S617P |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,767,674 (GRCm39) |
S345P |
probably benign |
Het |
| Gm5420 |
A |
G |
10: 21,567,514 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr182 |
T |
A |
10: 127,586,655 (GRCm39) |
I99F |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,057 (GRCm39) |
I349T |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,143,718 (GRCm39) |
T497A |
possibly damaging |
Het |
| Mllt3 |
A |
C |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,411 (GRCm39) |
T576A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,934,506 (GRCm39) |
M126V |
probably benign |
Het |
| Naalad2 |
T |
G |
9: 18,238,669 (GRCm39) |
D644A |
probably damaging |
Het |
| Or4a74 |
A |
G |
2: 89,439,720 (GRCm39) |
I242T |
probably damaging |
Het |
| Otof |
C |
A |
5: 30,563,121 (GRCm39) |
A242S |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,576,856 (GRCm39) |
D132G |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,093,488 (GRCm39) |
Y385H |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,605 (GRCm39) |
N254S |
probably damaging |
Het |
| Samd5 |
T |
A |
10: 9,504,768 (GRCm39) |
Y162F |
probably benign |
Het |
| Sapcd2 |
A |
G |
2: 25,266,491 (GRCm39) |
*392W |
probably null |
Het |
| Senp6 |
T |
C |
9: 80,043,792 (GRCm39) |
Y635H |
probably damaging |
Het |
| Serpine1 |
C |
A |
5: 137,098,185 (GRCm39) |
V163L |
probably damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,698,091 (GRCm39) |
E678G |
possibly damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,471,310 (GRCm39) |
F494L |
possibly damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,450,718 (GRCm39) |
C304* |
probably null |
Het |
| Spink1 |
G |
A |
18: 43,870,216 (GRCm39) |
|
probably benign |
Het |
| Star |
G |
A |
8: 26,299,892 (GRCm39) |
G78E |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,074,518 (GRCm39) |
I203T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,424,386 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
T |
C |
8: 65,436,387 (GRCm39) |
D21G |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,679,144 (GRCm39) |
I275N |
probably damaging |
Het |
|
| Other mutations in Pdk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation