Incidental Mutation 'R4892:Cpt1c'
| ID |
377339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpt1c
|
| Ensembl Gene |
ENSMUSG00000007783 |
| Gene Name |
carnitine palmitoyltransferase 1c |
| Synonyms |
CPT I-C, 9630004I06Rik |
| MMRRC Submission |
042497-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44608796-44624275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44609012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 770
(F770L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063761]
[ENSMUST00000080233]
[ENSMUST00000120929]
[ENSMUST00000212836]
|
| AlphaFold |
Q8BGD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063761
AA Change: F770L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783
AA Change: F770L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPT_N
|
1 |
47 |
2.3e-21 |
PFAM |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
Pfam:Carn_acyltransf
|
171 |
757 |
7.7e-167 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080233
|
| SMART Domains |
Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSKS
|
26 |
525 |
5.7e-281 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120929
|
| SMART Domains |
Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSKS
|
26 |
585 |
8.1e-297 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208475
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212217
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212836
AA Change: F770L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212890
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance. Mice homozygous for a different targeted knock-out exhibit reduced ceramide levels, impaired dendritic spine maturationand impaired spatial learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,236,431 (GRCm39) |
T1128A |
probably benign |
Het |
| Apol11a |
A |
T |
15: 77,401,190 (GRCm39) |
K226* |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,411,899 (GRCm39) |
M45V |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,696 (GRCm39) |
M263K |
probably benign |
Het |
| Capn11 |
GACA |
GA |
17: 45,944,023 (GRCm39) |
|
probably null |
Het |
| Ccdc190 |
C |
A |
1: 169,757,678 (GRCm39) |
L46I |
possibly damaging |
Het |
| Cep131 |
C |
T |
11: 119,958,883 (GRCm39) |
R717H |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,914,924 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
A |
2: 180,316,822 (GRCm39) |
Q662* |
probably null |
Het |
| Dip2a |
T |
C |
10: 76,116,593 (GRCm39) |
E910G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fmo3 |
T |
A |
1: 162,796,300 (GRCm39) |
I91F |
probably benign |
Het |
| Gdap1 |
A |
C |
1: 17,230,218 (GRCm39) |
D217A |
possibly damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,331 (GRCm39) |
S766G |
possibly damaging |
Het |
| Kat8 |
T |
A |
7: 127,514,710 (GRCm39) |
I123N |
possibly damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,440,763 (GRCm39) |
S23* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,704,244 (GRCm39) |
T432I |
probably damaging |
Het |
| Lgals9 |
T |
A |
11: 78,856,909 (GRCm39) |
I223L |
probably benign |
Het |
| Mpo |
T |
A |
11: 87,693,507 (GRCm39) |
N48K |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,731,525 (GRCm39) |
H632Q |
probably damaging |
Het |
| Or2y1c |
C |
A |
11: 49,361,043 (GRCm39) |
Q22K |
probably benign |
Het |
| Or9s27 |
A |
G |
1: 92,516,643 (GRCm39) |
N197S |
probably benign |
Het |
| Prelid2 |
A |
G |
18: 42,084,209 (GRCm39) |
F11S |
possibly damaging |
Het |
| Setd1a |
G |
T |
7: 127,377,696 (GRCm39) |
V57L |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,431 (GRCm39) |
D704G |
probably damaging |
Het |
| Spryd3 |
T |
C |
15: 102,026,537 (GRCm39) |
E378G |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,810,770 (GRCm39) |
Y112N |
probably damaging |
Het |
| Syndig1 |
A |
T |
2: 149,741,811 (GRCm39) |
K132N |
probably damaging |
Het |
| Tcf20 |
C |
T |
15: 82,738,400 (GRCm39) |
R1017Q |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,896 (GRCm39) |
D1370V |
probably damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,769,134 (GRCm39) |
T308I |
probably damaging |
Het |
| Ttc29 |
T |
C |
8: 79,060,274 (GRCm39) |
V398A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,155,828 (GRCm39) |
T2218A |
probably benign |
Het |
|
| Other mutations in Cpt1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01080:Cpt1c
|
APN |
7 |
44,610,333 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01111:Cpt1c
|
APN |
7 |
44,614,978 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01153:Cpt1c
|
APN |
7 |
44,616,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02232:Cpt1c
|
APN |
7 |
44,609,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0046:Cpt1c
|
UTSW |
7 |
44,609,256 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Cpt1c
|
UTSW |
7 |
44,609,256 (GRCm39) |
splice site |
probably benign |
|
|
R0141:Cpt1c
|
UTSW |
7 |
44,616,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0367:Cpt1c
|
UTSW |
7 |
44,608,999 (GRCm39) |
missense |
probably benign |
|
|
R0749:Cpt1c
|
UTSW |
7 |
44,612,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:Cpt1c
|
UTSW |
7 |
44,610,348 (GRCm39) |
splice site |
probably benign |
|
|
R1611:Cpt1c
|
UTSW |
7 |
44,609,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3122:Cpt1c
|
UTSW |
7 |
44,609,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Cpt1c
|
UTSW |
7 |
44,620,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Cpt1c
|
UTSW |
7 |
44,614,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6352:Cpt1c
|
UTSW |
7 |
44,616,219 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6856:Cpt1c
|
UTSW |
7 |
44,609,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7621:Cpt1c
|
UTSW |
7 |
44,616,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Cpt1c
|
UTSW |
7 |
44,611,689 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7883:Cpt1c
|
UTSW |
7 |
44,613,438 (GRCm39) |
splice site |
probably null |
|
|
R8178:Cpt1c
|
UTSW |
7 |
44,609,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9165:Cpt1c
|
UTSW |
7 |
44,608,925 (GRCm39) |
makesense |
probably null |
|
|
R9225:Cpt1c
|
UTSW |
7 |
44,610,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCACATCTTTATTACCAGGTGGG -3'
(R):5'- ATCCCAGAGGTCCCTGATGTAG -3'
Sequencing Primer
(F):5'- CAGGTGGGTGTGGGAATCCC -3'
(R):5'- AGAGGTCCCTGATGTAGCCTCC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation