Incidental Mutation 'IGL02450:Pdhx'
| ID |
294111 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdhx
|
| Ensembl Gene |
ENSMUSG00000010914 |
| Gene Name |
pyruvate dehydrogenase complex, component X |
| Synonyms |
Pdx1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
102851420-102903858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102872594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 163
(S163P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011058]
[ENSMUST00000111183]
[ENSMUST00000132449]
|
| AlphaFold |
Q8BKZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011058
AA Change: S163P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000011058
Gene: ENSMUSG00000010914
AA Change: S163P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
Pfam:Biotin_lipoyl
|
57 |
131 |
1.3e-21 |
PFAM |
|
low complexity region
|
148 |
172 |
N/A |
INTRINSIC |
|
Pfam:E3_binding
|
182 |
217 |
5e-9 |
PFAM |
|
low complexity region
|
233 |
249 |
N/A |
INTRINSIC |
|
Pfam:2-oxoacid_dh
|
272 |
501 |
8.4e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111183
AA Change: S163P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106814
Gene: ENSMUSG00000010914
AA Change: S163P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
Pfam:Biotin_lipoyl
|
57 |
131 |
1.8e-21 |
PFAM |
|
low complexity region
|
148 |
172 |
N/A |
INTRINSIC |
|
Pfam:E3_binding
|
180 |
216 |
6.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132449
AA Change: S98P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119172
Gene: ENSMUSG00000010914
AA Change: S98P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Biotin_lipoyl
|
5 |
66 |
1.3e-14 |
PFAM |
|
low complexity region
|
83 |
107 |
N/A |
INTRINSIC |
|
Pfam:E3_binding
|
115 |
153 |
6.1e-14 |
PFAM |
|
low complexity region
|
168 |
184 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
A |
G |
15: 81,798,963 (GRCm39) |
*781W |
probably null |
Het |
| Adamts16 |
C |
A |
13: 70,984,419 (GRCm39) |
R81S |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,546,855 (GRCm39) |
D386G |
probably benign |
Het |
| Anxa6 |
G |
A |
11: 54,885,767 (GRCm39) |
R393W |
probably damaging |
Het |
| Bdnf |
G |
A |
2: 109,553,949 (GRCm39) |
V108I |
possibly damaging |
Het |
| Bpgm |
C |
T |
6: 34,464,399 (GRCm39) |
R39W |
probably damaging |
Het |
| Cd101 |
T |
C |
3: 100,901,054 (GRCm39) |
E1006G |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,603,132 (GRCm39) |
E972V |
possibly damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,132,224 (GRCm39) |
Q133L |
probably benign |
Het |
| Cdk5r1 |
C |
T |
11: 80,368,666 (GRCm39) |
A111V |
probably benign |
Het |
| Cnga4 |
A |
T |
7: 105,054,955 (GRCm39) |
I77F |
probably damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,674,766 (GRCm39) |
V39D |
possibly damaging |
Het |
| Gimap6 |
T |
C |
6: 48,681,351 (GRCm39) |
I94M |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,484,726 (GRCm39) |
V407A |
probably benign |
Het |
| Gm5784 |
C |
T |
12: 19,437,970 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9839 |
A |
T |
1: 32,559,964 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
T |
A |
12: 51,992,213 (GRCm39) |
M566L |
probably benign |
Het |
| Jph1 |
G |
A |
1: 17,074,201 (GRCm39) |
P606S |
possibly damaging |
Het |
| Jup |
C |
T |
11: 100,269,183 (GRCm39) |
C410Y |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,239 (GRCm39) |
M777T |
probably benign |
Het |
| Lifr |
G |
T |
15: 7,220,246 (GRCm39) |
D959Y |
probably damaging |
Het |
| Lsm1 |
C |
A |
8: 26,283,806 (GRCm39) |
L73I |
possibly damaging |
Het |
| Maneal |
G |
A |
4: 124,750,928 (GRCm39) |
A276V |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,142,635 (GRCm39) |
D932G |
probably damaging |
Het |
| Nipbl |
C |
T |
15: 8,373,058 (GRCm39) |
V1063M |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,798 (GRCm39) |
V882A |
probably benign |
Het |
| Obox6 |
A |
G |
7: 15,567,638 (GRCm39) |
C270R |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,903,140 (GRCm39) |
H176R |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,571,835 (GRCm39) |
I925V |
possibly damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,331,461 (GRCm39) |
D271G |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,075,515 (GRCm39) |
I399T |
probably damaging |
Het |
| Pthlh |
T |
G |
6: 147,158,666 (GRCm39) |
D98A |
possibly damaging |
Het |
| Spata31f3 |
A |
G |
4: 42,874,127 (GRCm39) |
S14P |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,698,249 (GRCm39) |
|
probably null |
Het |
| Tgtp2 |
C |
T |
11: 48,950,317 (GRCm39) |
G85D |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,683,897 (GRCm39) |
D739G |
probably damaging |
Het |
| Washc5 |
G |
A |
15: 59,204,166 (GRCm39) |
R706* |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,480,450 (GRCm39) |
D680E |
probably damaging |
Het |
|
| Other mutations in Pdhx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02147:Pdhx
|
APN |
2 |
102,860,686 (GRCm39) |
unclassified |
probably benign |
|
|
R0152:Pdhx
|
UTSW |
2 |
102,858,625 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0317:Pdhx
|
UTSW |
2 |
102,858,625 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2351:Pdhx
|
UTSW |
2 |
102,854,562 (GRCm39) |
nonsense |
probably null |
|
|
R3937:Pdhx
|
UTSW |
2 |
102,852,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Pdhx
|
UTSW |
2 |
102,865,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4546:Pdhx
|
UTSW |
2 |
102,903,742 (GRCm39) |
missense |
probably null |
0.99 |
|
R4677:Pdhx
|
UTSW |
2 |
102,903,811 (GRCm39) |
splice site |
probably null |
|
|
R4744:Pdhx
|
UTSW |
2 |
102,872,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4996:Pdhx
|
UTSW |
2 |
102,860,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Pdhx
|
UTSW |
2 |
102,871,385 (GRCm39) |
splice site |
probably null |
|
|
R5076:Pdhx
|
UTSW |
2 |
102,871,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5682:Pdhx
|
UTSW |
2 |
102,865,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6246:Pdhx
|
UTSW |
2 |
102,877,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Pdhx
|
UTSW |
2 |
102,871,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Pdhx
|
UTSW |
2 |
102,903,659 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7219:Pdhx
|
UTSW |
2 |
102,858,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7460:Pdhx
|
UTSW |
2 |
102,877,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Pdhx
|
UTSW |
2 |
102,877,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8325:Pdhx
|
UTSW |
2 |
102,872,597 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9163:Pdhx
|
UTSW |
2 |
102,852,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation