Incidental Mutation 'IGL01643:Pdk1'
ID |
93583 |
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)
|
Stock # |
IGL01643
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
71703568-71734202 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71728049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 370
(D370G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006669
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006669]
|
AlphaFold |
Q8BFP9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006669
AA Change: D370G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006669 Gene: ENSMUSG00000006494 AA Change: D370G
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
T |
11: 72,082,414 (GRCm39) |
R304Q |
probably damaging |
Het |
Afap1l1 |
T |
A |
18: 61,884,897 (GRCm39) |
E196V |
probably damaging |
Het |
Bmp5 |
A |
T |
9: 75,746,895 (GRCm39) |
D251V |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,288,839 (GRCm39) |
H334R |
probably benign |
Het |
Crnkl1 |
A |
G |
2: 145,773,268 (GRCm39) |
M126T |
probably damaging |
Het |
Ddrgk1 |
T |
C |
2: 130,500,214 (GRCm39) |
|
probably benign |
Het |
Dpy19l4 |
T |
C |
4: 11,290,184 (GRCm39) |
|
probably benign |
Het |
Eral1 |
A |
G |
11: 77,965,104 (GRCm39) |
|
probably null |
Het |
Ereg |
T |
A |
5: 91,234,637 (GRCm39) |
S17T |
probably benign |
Het |
Fgfr1 |
T |
A |
8: 26,056,751 (GRCm39) |
M280K |
probably benign |
Het |
Gpr65 |
A |
G |
12: 98,242,013 (GRCm39) |
E222G |
probably damaging |
Het |
Grid1 |
G |
T |
14: 35,045,392 (GRCm39) |
|
probably null |
Het |
Hspa12b |
A |
G |
2: 130,984,617 (GRCm39) |
T329A |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,798,400 (GRCm39) |
I863V |
probably damaging |
Het |
Kash5 |
A |
T |
7: 44,849,710 (GRCm39) |
M71K |
probably damaging |
Het |
Krt8 |
G |
T |
15: 101,905,508 (GRCm39) |
S447Y |
possibly damaging |
Het |
Lama2 |
T |
A |
10: 26,946,368 (GRCm39) |
|
probably benign |
Het |
Lama4 |
A |
C |
10: 38,932,846 (GRCm39) |
N574T |
probably benign |
Het |
Lig3 |
T |
C |
11: 82,689,118 (GRCm39) |
S791P |
probably damaging |
Het |
Oas2 |
A |
T |
5: 120,874,252 (GRCm39) |
|
probably benign |
Het |
Or4c12b |
A |
T |
2: 89,647,017 (GRCm39) |
I116F |
probably damaging |
Het |
Popdc3 |
T |
A |
10: 45,190,976 (GRCm39) |
I29N |
probably damaging |
Het |
Rbp3 |
A |
T |
14: 33,678,793 (GRCm39) |
I914F |
probably benign |
Het |
Rnf207 |
C |
T |
4: 152,402,718 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,707,563 (GRCm39) |
I2825F |
possibly damaging |
Het |
Slc37a2 |
A |
T |
9: 37,146,849 (GRCm39) |
|
probably benign |
Het |
Vps8 |
T |
C |
16: 21,336,972 (GRCm39) |
V791A |
possibly damaging |
Het |
Wdr64 |
T |
C |
1: 175,599,877 (GRCm39) |
L127P |
probably damaging |
Het |
Whrn |
T |
C |
4: 63,334,672 (GRCm39) |
T368A |
possibly damaging |
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 |
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 |
2013-12-09 |