Incidental Mutation 'IGL00924:Pcx'
| ID |
29507 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcx
|
| Ensembl Gene |
ENSMUSG00000024892 |
| Gene Name |
pyruvate carboxylase |
| Synonyms |
Pc |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4560500-4671780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4670965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1089
(V1089I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025823]
[ENSMUST00000068004]
[ENSMUST00000113825]
[ENSMUST00000177696]
[ENSMUST00000224675]
[ENSMUST00000224726]
[ENSMUST00000225375]
[ENSMUST00000225264]
[ENSMUST00000224707]
[ENSMUST00000225476]
[ENSMUST00000225896]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025823
|
| SMART Domains |
Protein: ENSMUSP00000025823
Gene: ENSMUSG00000024889
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
Pfam:Abi
|
147 |
267 |
1.4e-19 |
PFAM |
|
transmembrane domain
|
283 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068004
AA Change: V1090I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892
AA Change: V1090I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
37 |
147 |
3.3e-45 |
PFAM |
|
Pfam:ATP-grasp_4
|
149 |
334 |
3.9e-19 |
PFAM |
|
Pfam:CPSase_L_D2
|
152 |
361 |
7.2e-77 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
161 |
329 |
1.5e-11 |
PFAM |
|
Biotin_carb_C
|
376 |
483 |
1.21e-50 |
SMART |
|
low complexity region
|
513 |
541 |
N/A |
INTRINSIC |
|
Pfam:HMGL-like
|
564 |
838 |
8.2e-29 |
PFAM |
|
Pfam:PYC_OADA
|
862 |
1062 |
1.4e-72 |
PFAM |
|
Pfam:Biotin_lipoyl
|
1111 |
1178 |
1.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113825
AA Change: V1089I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892
AA Change: V1089I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
36 |
146 |
1.1e-43 |
PFAM |
|
Pfam:ATP-grasp_4
|
148 |
332 |
2.9e-19 |
PFAM |
|
Pfam:CPSase_L_D2
|
151 |
360 |
4.2e-77 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
158 |
328 |
7.9e-13 |
PFAM |
|
Biotin_carb_C
|
375 |
482 |
1.21e-50 |
SMART |
|
low complexity region
|
512 |
540 |
N/A |
INTRINSIC |
|
Pfam:HMGL-like
|
571 |
821 |
3.4e-28 |
PFAM |
|
Pfam:PYC_OADA
|
861 |
1062 |
3.4e-69 |
PFAM |
|
Pfam:Biotin_lipoyl
|
1110 |
1177 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177696
|
| SMART Domains |
Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
Pfam:DUF4554
|
274 |
719 |
5.3e-206 |
PFAM |
|
low complexity region
|
720 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223788
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224675
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224726
AA Change: V1089I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226012
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225509
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225896
|
| 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 encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,255,021 (GRCm39) |
V112A |
probably benign |
Het |
| Atp1a4 |
T |
A |
1: 172,074,339 (GRCm39) |
I305F |
probably damaging |
Het |
| AW209491 |
A |
G |
13: 14,811,660 (GRCm39) |
N171S |
probably damaging |
Het |
| Bank1 |
G |
T |
3: 135,953,395 (GRCm39) |
A120E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,234,087 (GRCm39) |
E206D |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,613,612 (GRCm39) |
K428E |
possibly damaging |
Het |
| Ccdc42 |
A |
G |
11: 68,485,447 (GRCm39) |
I191V |
probably benign |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cpm |
T |
G |
10: 117,511,971 (GRCm39) |
I305S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,006,833 (GRCm39) |
T1065A |
unknown |
Het |
| Dlc1 |
A |
T |
8: 37,405,368 (GRCm39) |
S140R |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,653,188 (GRCm39) |
T674A |
probably benign |
Het |
| Dnajc7 |
A |
G |
11: 100,475,111 (GRCm39) |
I437T |
possibly damaging |
Het |
| Entpd5 |
A |
T |
12: 84,433,828 (GRCm39) |
V147E |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,783,510 (GRCm39) |
C30R |
probably benign |
Het |
| Habp4 |
A |
G |
13: 64,321,885 (GRCm39) |
D174G |
probably damaging |
Het |
| Has3 |
T |
C |
8: 107,605,231 (GRCm39) |
F479S |
probably benign |
Het |
| Helb |
T |
A |
10: 119,946,889 (GRCm39) |
K141N |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,221,956 (GRCm39) |
R465H |
probably benign |
Het |
| Lrrc57 |
A |
T |
2: 120,436,532 (GRCm39) |
M86K |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,132,398 (GRCm39) |
V258A |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,882,625 (GRCm39) |
M476L |
probably damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,334,393 (GRCm39) |
F216Y |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Ngdn |
T |
C |
14: 55,260,626 (GRCm39) |
I278T |
probably damaging |
Het |
| Or4c104 |
T |
C |
2: 88,586,500 (GRCm39) |
D173G |
possibly damaging |
Het |
| Or9a4 |
C |
T |
6: 40,548,388 (GRCm39) |
R23C |
probably benign |
Het |
| P4hb |
G |
T |
11: 120,454,644 (GRCm39) |
Q245K |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,624 (GRCm39) |
M498K |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,790,601 (GRCm39) |
L1025* |
probably null |
Het |
| Sdhaf2 |
G |
A |
19: 10,494,380 (GRCm39) |
P110S |
probably damaging |
Het |
| Slc22a20 |
T |
C |
19: 6,020,544 (GRCm39) |
K538E |
probably benign |
Het |
| Spag11b |
T |
A |
8: 19,192,656 (GRCm39) |
V78D |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,294 (GRCm39) |
C367R |
probably damaging |
Het |
| Unc5a |
G |
A |
13: 55,152,327 (GRCm39) |
E741K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,891 (GRCm39) |
L668H |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,964,643 (GRCm39) |
T367I |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,942,231 (GRCm39) |
P603S |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,661,723 (GRCm39) |
R577W |
probably damaging |
Het |
|
| Other mutations in Pcx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Pcx
|
APN |
19 |
4,670,263 (GRCm39) |
splice site |
probably null |
|
|
IGL01373:Pcx
|
APN |
19 |
4,670,263 (GRCm39) |
splice site |
probably null |
|
|
IGL01704:Pcx
|
APN |
19 |
4,671,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Pcx
|
APN |
19 |
4,652,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Pcx
|
UTSW |
19 |
4,653,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Pcx
|
UTSW |
19 |
4,651,775 (GRCm39) |
splice site |
probably benign |
|
|
R0098:Pcx
|
UTSW |
19 |
4,651,775 (GRCm39) |
splice site |
probably benign |
|
|
R0211:Pcx
|
UTSW |
19 |
4,670,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Pcx
|
UTSW |
19 |
4,670,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Pcx
|
UTSW |
19 |
4,651,638 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0414:Pcx
|
UTSW |
19 |
4,657,670 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1402:Pcx
|
UTSW |
19 |
4,652,058 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1402:Pcx
|
UTSW |
19 |
4,652,058 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1479:Pcx
|
UTSW |
19 |
4,652,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Pcx
|
UTSW |
19 |
4,652,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Pcx
|
UTSW |
19 |
4,669,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Pcx
|
UTSW |
19 |
4,653,187 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1833:Pcx
|
UTSW |
19 |
4,669,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1866:Pcx
|
UTSW |
19 |
4,671,249 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2131:Pcx
|
UTSW |
19 |
4,652,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2172:Pcx
|
UTSW |
19 |
4,670,909 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2224:Pcx
|
UTSW |
19 |
4,668,026 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2226:Pcx
|
UTSW |
19 |
4,668,026 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2280:Pcx
|
UTSW |
19 |
4,654,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Pcx
|
UTSW |
19 |
4,667,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3952:Pcx
|
UTSW |
19 |
4,667,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4205:Pcx
|
UTSW |
19 |
4,669,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4409:Pcx
|
UTSW |
19 |
4,660,031 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4670:Pcx
|
UTSW |
19 |
4,669,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Pcx
|
UTSW |
19 |
4,669,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4728:Pcx
|
UTSW |
19 |
4,653,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4808:Pcx
|
UTSW |
19 |
4,670,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5200:Pcx
|
UTSW |
19 |
4,668,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Pcx
|
UTSW |
19 |
4,652,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Pcx
|
UTSW |
19 |
4,669,195 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5990:Pcx
|
UTSW |
19 |
4,671,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6519:Pcx
|
UTSW |
19 |
4,652,239 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6526:Pcx
|
UTSW |
19 |
4,654,523 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7202:Pcx
|
UTSW |
19 |
4,652,361 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7423:Pcx
|
UTSW |
19 |
4,671,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7473:Pcx
|
UTSW |
19 |
4,669,589 (GRCm39) |
nonsense |
probably null |
|
|
R7654:Pcx
|
UTSW |
19 |
4,565,697 (GRCm39) |
splice site |
probably null |
|
|
R7963:Pcx
|
UTSW |
19 |
4,652,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Pcx
|
UTSW |
19 |
4,651,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Pcx
|
UTSW |
19 |
4,652,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8781:Pcx
|
UTSW |
19 |
4,670,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Pcx
|
UTSW |
19 |
4,651,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9084:Pcx
|
UTSW |
19 |
4,669,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Pcx
|
UTSW |
19 |
4,670,532 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9462:Pcx
|
UTSW |
19 |
4,651,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9540:Pcx
|
UTSW |
19 |
4,651,682 (GRCm39) |
missense |
probably benign |
|
|
R9650:Pcx
|
UTSW |
19 |
4,657,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pcx
|
UTSW |
19 |
4,669,101 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2013-04-17 |
Incidental Mutation