Incidental Mutation 'IGL00785:Cpt1a'
| ID |
9878 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpt1a
|
| Ensembl Gene |
ENSMUSG00000024900 |
| Gene Name |
carnitine palmitoyltransferase 1a, liver |
| Synonyms |
Cpt1, CPTI, L-CPT I |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00785
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
3372334-3435733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3416389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 313
(N313K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025835]
|
| AlphaFold |
P97742 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025835
AA Change: N313K
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: N313K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPT_N
|
1 |
47 |
2.3e-30 |
PFAM |
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
Pfam:Carn_acyltransf
|
171 |
762 |
6e-186 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display decreased serum glucose and increased serum free fatty acid levels after fasting. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Crb2 |
G |
A |
2: 37,682,076 (GRCm39) |
C819Y |
probably damaging |
Het |
| Ctnna3 |
T |
G |
10: 63,402,612 (GRCm39) |
F108V |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,042,609 (GRCm39) |
S931P |
probably benign |
Het |
| Ganc |
A |
C |
2: 120,272,079 (GRCm39) |
Y579S |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,759 (GRCm39) |
S189P |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,487,612 (GRCm39) |
E565G |
possibly damaging |
Het |
| Kif11 |
C |
A |
19: 37,392,745 (GRCm39) |
L559I |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,392,746 (GRCm39) |
L559P |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,575,721 (GRCm39) |
S261P |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,703,555 (GRCm39) |
K2035E |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,862,814 (GRCm39) |
S1813P |
probably benign |
Het |
| Osbpl8 |
A |
G |
10: 111,108,905 (GRCm39) |
T396A |
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,337,094 (GRCm39) |
T560A |
probably benign |
Het |
| Rictor |
A |
C |
15: 6,806,431 (GRCm39) |
Q683P |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,666,448 (GRCm39) |
H1519Q |
possibly damaging |
Het |
| Slc34a2 |
A |
T |
5: 53,222,950 (GRCm39) |
I347F |
probably benign |
Het |
| Sned1 |
C |
A |
1: 93,201,891 (GRCm39) |
|
probably benign |
Het |
| St7l |
A |
G |
3: 104,780,895 (GRCm39) |
|
probably benign |
Het |
| Trmu |
T |
A |
15: 85,767,032 (GRCm39) |
D80E |
probably benign |
Het |
| Trpv4 |
A |
G |
5: 114,766,686 (GRCm39) |
V620A |
probably damaging |
Het |
| Ubr2 |
G |
A |
17: 47,255,791 (GRCm39) |
T1370I |
possibly damaging |
Het |
| Xpo5 |
T |
C |
17: 46,515,618 (GRCm39) |
V48A |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,146 (GRCm39) |
W104R |
probably damaging |
Het |
|
| Other mutations in Cpt1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
allosouris
|
UTSW |
19 |
3,428,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tyrannosouris
|
UTSW |
19 |
3,412,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Cpt1a
|
UTSW |
19 |
3,431,674 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0029:Cpt1a
|
UTSW |
19 |
3,431,674 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0305:Cpt1a
|
UTSW |
19 |
3,428,455 (GRCm39) |
missense |
probably benign |
|
|
R0963:Cpt1a
|
UTSW |
19 |
3,431,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Cpt1a
|
UTSW |
19 |
3,415,788 (GRCm39) |
splice site |
probably benign |
|
|
R2102:Cpt1a
|
UTSW |
19 |
3,421,585 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3034:Cpt1a
|
UTSW |
19 |
3,428,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Cpt1a
|
UTSW |
19 |
3,406,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5195:Cpt1a
|
UTSW |
19 |
3,433,800 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5391:Cpt1a
|
UTSW |
19 |
3,399,260 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5964:Cpt1a
|
UTSW |
19 |
3,415,760 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6031:Cpt1a
|
UTSW |
19 |
3,421,556 (GRCm39) |
splice site |
probably null |
|
|
R6031:Cpt1a
|
UTSW |
19 |
3,421,556 (GRCm39) |
splice site |
probably null |
|
|
R6246:Cpt1a
|
UTSW |
19 |
3,426,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6339:Cpt1a
|
UTSW |
19 |
3,412,152 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6427:Cpt1a
|
UTSW |
19 |
3,412,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6535:Cpt1a
|
UTSW |
19 |
3,415,788 (GRCm39) |
splice site |
probably null |
|
|
R6621:Cpt1a
|
UTSW |
19 |
3,428,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6892:Cpt1a
|
UTSW |
19 |
3,421,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7142:Cpt1a
|
UTSW |
19 |
3,425,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7385:Cpt1a
|
UTSW |
19 |
3,430,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7908:Cpt1a
|
UTSW |
19 |
3,412,202 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8098:Cpt1a
|
UTSW |
19 |
3,420,849 (GRCm39) |
missense |
probably benign |
|
|
R8362:Cpt1a
|
UTSW |
19 |
3,420,744 (GRCm39) |
nonsense |
probably null |
|
|
R8444:Cpt1a
|
UTSW |
19 |
3,431,981 (GRCm39) |
missense |
probably benign |
|
|
R8854:Cpt1a
|
UTSW |
19 |
3,406,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8918:Cpt1a
|
UTSW |
19 |
3,408,258 (GRCm39) |
missense |
|
|
|
R8951:Cpt1a
|
UTSW |
19 |
3,412,211 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9217:Cpt1a
|
UTSW |
19 |
3,425,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9295:Cpt1a
|
UTSW |
19 |
3,428,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9495:Cpt1a
|
UTSW |
19 |
3,433,795 (GRCm39) |
missense |
probably benign |
|
|
R9560:Cpt1a
|
UTSW |
19 |
3,402,531 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9735:Cpt1a
|
UTSW |
19 |
3,420,825 (GRCm39) |
missense |
probably benign |
|
|
X0019:Cpt1a
|
UTSW |
19 |
3,416,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Cpt1a
|
UTSW |
19 |
3,420,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cpt1a
|
UTSW |
19 |
3,416,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation