Incidental Mutation 'R6621:Cpt1a'
| ID |
524477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpt1a
|
| Ensembl Gene |
ENSMUSG00000024900 |
| Gene Name |
carnitine palmitoyltransferase 1a, liver |
| Synonyms |
Cpt1, CPTI, L-CPT I |
| MMRRC Submission |
044744-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6621 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
3372334-3435733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3428472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 615
(F615L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025835]
|
| AlphaFold |
P97742 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025835
AA Change: F615L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: F615L
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
C |
T |
8: 120,872,162 (GRCm39) |
T30M |
possibly damaging |
Het |
| Abcb8 |
T |
C |
5: 24,599,508 (GRCm39) |
F8L |
probably benign |
Het |
| Akap13 |
G |
T |
7: 75,219,729 (GRCm39) |
C44F |
probably damaging |
Het |
| Ankrd34a |
A |
G |
3: 96,505,531 (GRCm39) |
N245S |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Chat |
C |
T |
14: 32,140,970 (GRCm39) |
A476T |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,487,719 (GRCm39) |
D100G |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,182,484 (GRCm39) |
D599V |
probably damaging |
Het |
| Dpysl5 |
T |
C |
5: 30,941,813 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,855 (GRCm39) |
L460P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,820,158 (GRCm39) |
V5297G |
possibly damaging |
Het |
| Gm28363 |
A |
G |
1: 117,655,087 (GRCm39) |
D102G |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,742,718 (GRCm39) |
V1377A |
probably damaging |
Het |
| Hat1 |
T |
A |
2: 71,252,059 (GRCm39) |
F264I |
probably benign |
Het |
| Kif3a |
A |
G |
11: 53,469,957 (GRCm39) |
I152M |
probably damaging |
Het |
| Lemd2 |
T |
C |
17: 27,414,366 (GRCm39) |
S323G |
probably benign |
Het |
| Manea |
T |
C |
4: 26,340,363 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,439,409 (GRCm39) |
E588G |
probably damaging |
Het |
| Mllt3 |
T |
G |
4: 87,759,034 (GRCm39) |
K338T |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,469,610 (GRCm39) |
T1324A |
probably damaging |
Het |
| Nudt8 |
T |
A |
19: 4,051,320 (GRCm39) |
Y64N |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,368 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,350,598 (GRCm39) |
I31V |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,210,085 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5ac15 |
A |
T |
16: 58,940,287 (GRCm39) |
W49R |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,541,899 (GRCm39) |
V117A |
probably benign |
Het |
| Or8c9 |
A |
T |
9: 38,241,758 (GRCm39) |
I289F |
probably damaging |
Het |
| Osm |
T |
A |
11: 4,189,541 (GRCm39) |
D108E |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,942,878 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,017,954 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
T |
C |
9: 45,807,468 (GRCm39) |
D245G |
probably damaging |
Het |
| Slc10a7 |
T |
C |
8: 79,242,263 (GRCm39) |
I50T |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,198,122 (GRCm39) |
V251A |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,966,242 (GRCm39) |
T320S |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,819 (GRCm39) |
E28G |
probably damaging |
Het |
|
| Other mutations in Cpt1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Cpt1a
|
APN |
19 |
3,416,389 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTTAGATGGCCACTCCC -3'
(R):5'- TTCATGGTCAGCTTCCAGGG -3'
Sequencing Primer
(F):5'- GATGGCCACTCCCACCTGTTAG -3'
(R):5'- TCCAGGGCAGTGACTTTCAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation