Incidental Mutation 'R2414:Cpt1b'
| ID |
250118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpt1b
|
| Ensembl Gene |
ENSMUSG00000078937 |
| Gene Name |
carnitine palmitoyltransferase 1b, muscle |
| Synonyms |
Cpt1, M-CPTI, M-CPT I |
| MMRRC Submission |
040378-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89300608-89310065 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 89304283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052315]
[ENSMUST00000109313]
[ENSMUST00000168376]
|
| AlphaFold |
Q924X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109313
|
| SMART Domains |
Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPT_N
|
1 |
47 |
2.5e-29 |
PFAM |
|
Pfam:Carn_acyltransf
|
173 |
762 |
1.3e-183 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168376
|
| SMART Domains |
Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LE3|A
|
1 |
42 |
1e-21 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168879
|
| SMART Domains |
Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
3 |
148 |
3.5e-34 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected. [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 |
|---|
| Ackr2 |
C |
A |
9: 121,738,040 (GRCm39) |
S138R |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,687,424 (GRCm39) |
E216G |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,762,484 (GRCm39) |
|
probably null |
Het |
| BC002059 |
T |
C |
17: 17,193,932 (GRCm39) |
|
noncoding transcript |
Het |
| Cep112 |
A |
G |
11: 108,643,408 (GRCm39) |
N799S |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,181,927 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,079,392 (GRCm39) |
E103G |
probably benign |
Het |
| Epor |
T |
A |
9: 21,870,785 (GRCm39) |
D365V |
probably damaging |
Het |
| H2bc21 |
T |
A |
3: 96,128,750 (GRCm39) |
I90N |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,306 (GRCm39) |
Y900H |
probably damaging |
Het |
| Hoxc9 |
A |
T |
15: 102,892,540 (GRCm39) |
N251I |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,315,587 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,688,711 (GRCm39) |
I197L |
probably benign |
Het |
| Msi2 |
A |
G |
11: 88,607,373 (GRCm39) |
V78A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,594 (GRCm39) |
I818V |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,956,629 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,496,582 (GRCm39) |
N362S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,945,054 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,289,831 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
A |
G |
15: 80,890,946 (GRCm39) |
N136D |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,181,976 (GRCm39) |
C583R |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,806,295 (GRCm39) |
W13R |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,658,954 (GRCm39) |
W276R |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
G |
17: 72,023,304 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,869,546 (GRCm39) |
S31P |
unknown |
Het |
| Ttll8 |
A |
G |
15: 88,820,336 (GRCm39) |
|
probably benign |
Het |
| Tub |
A |
G |
7: 108,626,240 (GRCm39) |
K259E |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,439,683 (GRCm39) |
I162M |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,326 (GRCm39) |
M1I |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,036,032 (GRCm39) |
G295* |
probably null |
Het |
|
| Other mutations in Cpt1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Cpt1b
|
APN |
15 |
89,305,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00497:Cpt1b
|
APN |
15 |
89,306,496 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01142:Cpt1b
|
APN |
15 |
89,303,196 (GRCm39) |
missense |
probably benign |
|
|
IGL02329:Cpt1b
|
APN |
15 |
89,307,942 (GRCm39) |
missense |
probably benign |
|
|
IGL02740:Cpt1b
|
APN |
15 |
89,308,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03196:Cpt1b
|
APN |
15 |
89,308,598 (GRCm39) |
missense |
probably benign |
|
|
macellaio
|
UTSW |
15 |
89,307,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
oleagenous
|
UTSW |
15 |
89,309,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Cpt1b
|
UTSW |
15 |
89,309,005 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4519001:Cpt1b
|
UTSW |
15 |
89,303,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Cpt1b
|
UTSW |
15 |
89,304,162 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0302:Cpt1b
|
UTSW |
15 |
89,302,073 (GRCm39) |
missense |
probably benign |
|
|
R0454:Cpt1b
|
UTSW |
15 |
89,308,596 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1199:Cpt1b
|
UTSW |
15 |
89,303,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1633:Cpt1b
|
UTSW |
15 |
89,303,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1674:Cpt1b
|
UTSW |
15 |
89,306,535 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2087:Cpt1b
|
UTSW |
15 |
89,306,411 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2178:Cpt1b
|
UTSW |
15 |
89,303,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Cpt1b
|
UTSW |
15 |
89,303,301 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2883:Cpt1b
|
UTSW |
15 |
89,302,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3432:Cpt1b
|
UTSW |
15 |
89,307,944 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3783:Cpt1b
|
UTSW |
15 |
89,309,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Cpt1b
|
UTSW |
15 |
89,308,247 (GRCm39) |
splice site |
probably null |
|
|
R4737:Cpt1b
|
UTSW |
15 |
89,305,609 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5122:Cpt1b
|
UTSW |
15 |
89,308,226 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5320:Cpt1b
|
UTSW |
15 |
89,303,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5365:Cpt1b
|
UTSW |
15 |
89,304,310 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5699:Cpt1b
|
UTSW |
15 |
89,308,476 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5710:Cpt1b
|
UTSW |
15 |
89,309,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Cpt1b
|
UTSW |
15 |
89,304,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Cpt1b
|
UTSW |
15 |
89,309,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Cpt1b
|
UTSW |
15 |
89,308,620 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6197:Cpt1b
|
UTSW |
15 |
89,309,037 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6323:Cpt1b
|
UTSW |
15 |
89,303,266 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6486:Cpt1b
|
UTSW |
15 |
89,305,027 (GRCm39) |
missense |
probably benign |
|
|
R7571:Cpt1b
|
UTSW |
15 |
89,305,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7648:Cpt1b
|
UTSW |
15 |
89,305,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7743:Cpt1b
|
UTSW |
15 |
89,305,607 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7893:Cpt1b
|
UTSW |
15 |
89,307,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8021:Cpt1b
|
UTSW |
15 |
89,305,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8207:Cpt1b
|
UTSW |
15 |
89,303,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8394:Cpt1b
|
UTSW |
15 |
89,306,490 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8552:Cpt1b
|
UTSW |
15 |
89,306,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Cpt1b
|
UTSW |
15 |
89,308,628 (GRCm39) |
missense |
probably benign |
|
|
R9564:Cpt1b
|
UTSW |
15 |
89,303,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Cpt1b
|
UTSW |
15 |
89,303,229 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCTGTATACCTGCTCGG -3'
(R):5'- TGGATCATGAGTGTTAGCCGTATAG -3'
Sequencing Primer
(F):5'- GTATACCTGCTCGGGAATGTCC -3'
(R):5'- CCGTATAGGGGTAGGGCAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation