Incidental Mutation 'R3122:Cpt1c'
| ID |
264108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpt1c
|
| Ensembl Gene |
ENSMUSG00000007783 |
| Gene Name |
carnitine palmitoyltransferase 1c |
| Synonyms |
CPT I-C, 9630004I06Rik |
| MMRRC Submission |
040595-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3122 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44608796-44624275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44609345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 715
(Y715H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063761]
[ENSMUST00000080233]
[ENSMUST00000120929]
[ENSMUST00000212836]
|
| AlphaFold |
Q8BGD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063761
AA Change: Y715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783
AA Change: Y715H
| 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 damaging
Transcript: ENSMUST00000212836
AA Change: Y715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212890
|
| Meta Mutation Damage Score |
0.9290 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,118,248 (GRCm39) |
N8S |
possibly damaging |
Het |
| Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
| Capn7 |
A |
T |
14: 31,081,167 (GRCm39) |
I395F |
probably damaging |
Het |
| Ccbe1 |
A |
G |
18: 66,199,900 (GRCm39) |
M274T |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,456,749 (GRCm39) |
|
probably benign |
Het |
| Ccdc85a |
C |
A |
11: 28,533,499 (GRCm39) |
C15F |
unknown |
Het |
| Dmwd |
T |
A |
7: 18,814,620 (GRCm39) |
F423L |
probably damaging |
Het |
| Dock3 |
C |
G |
9: 106,788,542 (GRCm39) |
A1598P |
probably damaging |
Het |
| Ext2 |
A |
G |
2: 93,644,170 (GRCm39) |
L37P |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,045,562 (GRCm39) |
D758G |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,396,776 (GRCm39) |
T236A |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,194 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,803,361 (GRCm39) |
M277K |
probably damaging |
Het |
| H2-T23 |
T |
A |
17: 36,341,855 (GRCm39) |
M248L |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,000,265 (GRCm39) |
F329S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 46,918,072 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,899,425 (GRCm39) |
H375Q |
probably benign |
Het |
| Lox |
A |
G |
18: 52,658,177 (GRCm39) |
F332S |
probably damaging |
Het |
| Ltf |
G |
A |
9: 110,851,968 (GRCm39) |
C135Y |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,554 (GRCm39) |
Y347H |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,422,031 (GRCm39) |
Y387H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip1 |
T |
C |
13: 100,545,503 (GRCm39) |
T1342A |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,453,031 (GRCm39) |
D10G |
probably benign |
Het |
| Nudt8 |
A |
G |
19: 4,052,015 (GRCm39) |
R209G |
possibly damaging |
Het |
| Or4c31 |
G |
T |
2: 88,291,853 (GRCm39) |
M75I |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,385 (GRCm39) |
V154A |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,954 (GRCm39) |
Y73N |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,213,049 (GRCm39) |
S131T |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 177,973,411 (GRCm39) |
I475V |
probably damaging |
Het |
| Pip |
T |
A |
6: 41,828,819 (GRCm39) |
N121K |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,109,384 (GRCm39) |
R222G |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,349,152 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,087,845 (GRCm39) |
V1745I |
possibly damaging |
Het |
| Tnfsf15 |
T |
A |
4: 63,652,522 (GRCm39) |
E96D |
probably benign |
Het |
| Vmn1r217 |
A |
G |
13: 23,298,249 (GRCm39) |
S218P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r71 |
T |
G |
7: 85,264,828 (GRCm39) |
Y53* |
probably null |
Het |
| Wapl |
A |
G |
14: 34,451,172 (GRCm39) |
I729M |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,986,744 (GRCm39) |
D175G |
probably benign |
Het |
| Zscan2 |
G |
A |
7: 80,513,092 (GRCm39) |
A26T |
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 |
|
R4892:Cpt1c
|
UTSW |
7 |
44,609,012 (GRCm39) |
missense |
probably benign |
0.14 |
|
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'- TGAGAGTCCTGCAGAGAAGC -3'
(R):5'- TGATTGATGTCCACAATTATCCGG -3'
Sequencing Primer
(F):5'- CCCGGGAGACAAGTCTGAG -3'
(R):5'- GTCCACAATTATCCGGATTACG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation