Incidental Mutation 'R7648:Cpt1b'
| ID |
590660 |
| 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 |
045726-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89300608-89310065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89305570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 382
(A382T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023289]
[ENSMUST00000052315]
[ENSMUST00000109313]
[ENSMUST00000168376]
|
| AlphaFold |
Q924X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023289
|
| SMART Domains |
Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:APH
|
70 |
317 |
1.9e-14 |
PFAM |
|
Pfam:Choline_kinase
|
97 |
308 |
1.5e-76 |
PFAM |
|
low complexity region
|
324 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052315
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109313
AA Change: A382T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: A382T
| 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 |
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 |
|
| SMART Domains |
Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937
AA Change: A12T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
3 |
148 |
3.5e-34 |
PFAM |
|
| Meta Mutation Damage Score |
0.7467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,261,886 (GRCm39) |
V46A |
possibly damaging |
Het |
| Asb13 |
C |
A |
13: 3,699,332 (GRCm39) |
N177K |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,852 (GRCm39) |
T233A |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,077,182 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
G |
T |
5: 121,934,440 (GRCm39) |
V880F |
probably damaging |
Het |
| Car14 |
T |
C |
3: 95,805,507 (GRCm39) |
N322S |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,343,587 (GRCm39) |
E40G |
probably damaging |
Het |
| Ceacam16 |
G |
T |
7: 19,586,203 (GRCm39) |
A103E |
unknown |
Het |
| Cnnm2 |
A |
G |
19: 46,866,339 (GRCm39) |
D829G |
probably damaging |
Het |
| Crygc |
A |
G |
1: 65,112,484 (GRCm39) |
F30S |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,060,992 (GRCm39) |
Q176R |
possibly damaging |
Het |
| Ctif |
A |
T |
18: 75,770,213 (GRCm39) |
H57Q |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,289 (GRCm39) |
*195Q |
probably null |
Het |
| Cyp2j8 |
T |
A |
4: 96,387,840 (GRCm39) |
D207V |
probably damaging |
Het |
| Ddx49 |
A |
G |
8: 70,750,605 (GRCm39) |
V123A |
possibly damaging |
Het |
| E4f1 |
A |
T |
17: 24,664,422 (GRCm39) |
I456K |
probably benign |
Het |
| Eif4b |
T |
C |
15: 101,997,435 (GRCm39) |
S317P |
unknown |
Het |
| Enam |
A |
T |
5: 88,652,016 (GRCm39) |
Q1175L |
possibly damaging |
Het |
| Eppk1 |
T |
C |
15: 75,994,871 (GRCm39) |
Y670C |
probably benign |
Het |
| Fam163b |
G |
T |
2: 27,002,752 (GRCm39) |
Q82K |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,588,526 (GRCm39) |
K358N |
probably damaging |
Het |
| Gls |
C |
A |
1: 52,235,939 (GRCm39) |
R392L |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 43,810,232 (GRCm39) |
V247A |
probably damaging |
Het |
| Gucy1a1 |
C |
T |
3: 82,016,014 (GRCm39) |
E325K |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,392,434 (GRCm39) |
C233R |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Kif28 |
A |
G |
1: 179,536,989 (GRCm39) |
V498A |
possibly damaging |
Het |
| Klhdc7a |
T |
C |
4: 139,693,250 (GRCm39) |
S566G |
possibly damaging |
Het |
| Mlph |
G |
A |
1: 90,861,248 (GRCm39) |
|
probably null |
Het |
| Mndal |
T |
A |
1: 173,684,961 (GRCm39) |
Y536F |
probably benign |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,411 (GRCm39) |
C282* |
probably null |
Het |
| Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
| Msh3 |
A |
T |
13: 92,410,536 (GRCm39) |
I684N |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,680,879 (GRCm39) |
K747R |
probably benign |
Het |
| Nup98 |
T |
G |
7: 101,773,404 (GRCm39) |
H1641P |
possibly damaging |
Het |
| Or8b35 |
A |
C |
9: 37,903,856 (GRCm39) |
T18P |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,728,736 (GRCm39) |
N570D |
probably damaging |
Het |
| Plekhh1 |
T |
A |
12: 79,101,905 (GRCm39) |
V325E |
probably benign |
Het |
| Rabl3 |
A |
T |
16: 37,384,120 (GRCm39) |
I176F |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,353,767 (GRCm39) |
E37G |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Tars2 |
G |
A |
3: 95,658,294 (GRCm39) |
T177I |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,997,563 (GRCm39) |
N842I |
probably damaging |
Het |
| Tmem175 |
A |
G |
5: 108,792,432 (GRCm39) |
E236G |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,753 (GRCm39) |
T2497A |
probably benign |
Het |
| Trf |
A |
G |
9: 103,105,168 (GRCm39) |
V48A |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,331,258 (GRCm39) |
K493E |
possibly damaging |
Het |
| Unc50 |
T |
C |
1: 37,470,402 (GRCm39) |
S9P |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,341,861 (GRCm39) |
|
probably null |
Het |
| Usp49 |
A |
T |
17: 47,985,753 (GRCm39) |
N487I |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,660,638 (GRCm39) |
D768G |
probably benign |
Het |
| Xcr1 |
T |
C |
9: 123,685,657 (GRCm39) |
E35G |
possibly damaging |
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 |
|
R2414:Cpt1b
|
UTSW |
15 |
89,304,283 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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'- GATGAGGTGAGACCACTTGG -3'
(R):5'- TACAGCACCTCTCAGAGAGC -3'
Sequencing Primer
(F):5'- GGTACCCTGAAAGATGTCCTCTG -3'
(R):5'- TCTCAGAGAGCAGGCACGTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation