Incidental Mutation 'R5122:Cpt1b'
ID |
393368 |
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 |
042710-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5122 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89300608-89310065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89308226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 160
(S160P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023289]
[ENSMUST00000052315]
[ENSMUST00000109313]
[ENSMUST00000171666]
[ENSMUST00000170460]
[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 benign
Transcript: ENSMUST00000109313
AA Change: S160P
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000104936 Gene: ENSMUSG00000078937 AA Change: S160P
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: ENSMUST00000112664
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115278
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165623
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171140
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170334
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166267
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171666
|
SMART Domains |
Protein: ENSMUSP00000127191 Gene: ENSMUSG00000022617
Domain | Start | End | E-Value | Type |
Pfam:Choline_kinase
|
1 |
142 |
2.5e-51 |
PFAM |
Pfam:APH
|
1 |
149 |
6.9e-14 |
PFAM |
Pfam:EcKinase
|
2 |
116 |
8.8e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170460
|
SMART Domains |
Protein: ENSMUSP00000128026 Gene: ENSMUSG00000022617
Domain | Start | End | E-Value | Type |
Pfam:Choline_kinase
|
1 |
176 |
1e-65 |
PFAM |
Pfam:APH
|
8 |
176 |
6.1e-13 |
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
C |
7: 78,750,409 (GRCm39) |
S1727P |
probably damaging |
Het |
Actr8 |
A |
T |
14: 29,704,672 (GRCm39) |
K57N |
possibly damaging |
Het |
Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,088,906 (GRCm39) |
|
probably null |
Het |
Bmp2k |
A |
G |
5: 97,234,874 (GRCm39) |
|
probably benign |
Het |
Cd274 |
A |
G |
19: 29,357,965 (GRCm39) |
H219R |
possibly damaging |
Het |
Cdc16 |
A |
T |
8: 13,814,570 (GRCm39) |
Y118F |
probably damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Chchd3 |
T |
C |
6: 32,945,240 (GRCm39) |
R89G |
probably benign |
Het |
Clstn2 |
C |
T |
9: 97,343,474 (GRCm39) |
V658M |
probably damaging |
Het |
Crym |
T |
C |
7: 119,794,718 (GRCm39) |
N167S |
probably benign |
Het |
Dhx16 |
T |
A |
17: 36,194,202 (GRCm39) |
Y438N |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,439,155 (GRCm39) |
R536G |
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,061,454 (GRCm39) |
D382G |
possibly damaging |
Het |
Dync1h1 |
G |
A |
12: 110,596,114 (GRCm39) |
G1547D |
probably damaging |
Het |
Eml3 |
T |
A |
19: 8,915,060 (GRCm39) |
|
probably null |
Het |
Ep400 |
G |
A |
5: 110,816,036 (GRCm39) |
P2799S |
probably damaging |
Het |
Ephb6 |
T |
C |
6: 41,590,338 (GRCm39) |
V30A |
probably benign |
Het |
Fam53b |
T |
A |
7: 132,380,991 (GRCm39) |
|
probably benign |
Het |
Fcrl1 |
A |
G |
3: 87,293,081 (GRCm39) |
K246R |
probably benign |
Het |
Focad |
G |
A |
4: 88,325,602 (GRCm39) |
|
probably null |
Het |
Glipr1l2 |
T |
C |
10: 111,942,961 (GRCm39) |
I272T |
possibly damaging |
Het |
Gm8104 |
A |
G |
14: 42,966,550 (GRCm39) |
I101V |
probably benign |
Het |
Grm5 |
A |
G |
7: 87,724,028 (GRCm39) |
I773V |
probably damaging |
Het |
Hyal1 |
A |
T |
9: 107,455,268 (GRCm39) |
T193S |
probably benign |
Het |
Igkv10-94 |
C |
A |
6: 68,681,655 (GRCm39) |
G62* |
probably null |
Het |
Itsn1 |
A |
G |
16: 91,690,732 (GRCm39) |
|
probably benign |
Het |
Kank4 |
A |
G |
4: 98,644,804 (GRCm39) |
S983P |
probably damaging |
Het |
Krtap16-1 |
C |
A |
11: 99,876,523 (GRCm39) |
V294F |
probably damaging |
Het |
Lama3 |
T |
G |
18: 12,672,823 (GRCm39) |
V866G |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,256,461 (GRCm39) |
R1268* |
probably null |
Het |
Lrriq1 |
C |
T |
10: 103,023,314 (GRCm39) |
V984I |
probably damaging |
Het |
Macf1 |
A |
C |
4: 123,346,085 (GRCm39) |
V4136G |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,670,593 (GRCm39) |
E419D |
probably damaging |
Het |
Nedd4l |
A |
G |
18: 65,324,518 (GRCm39) |
Y473C |
probably damaging |
Het |
Nod2 |
G |
T |
8: 89,390,748 (GRCm39) |
D330Y |
probably damaging |
Het |
Nt5c2 |
C |
T |
19: 46,878,360 (GRCm39) |
C458Y |
probably damaging |
Het |
Numa1 |
T |
C |
7: 101,662,976 (GRCm39) |
I681T |
probably damaging |
Het |
Or10a5 |
C |
A |
7: 106,636,055 (GRCm39) |
S231* |
probably null |
Het |
Papolg |
C |
T |
11: 23,817,501 (GRCm39) |
|
probably null |
Het |
Parn |
A |
G |
16: 13,472,311 (GRCm39) |
|
probably null |
Het |
Pgap2 |
T |
C |
7: 101,880,598 (GRCm39) |
F42S |
probably damaging |
Het |
Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
Pofut2 |
G |
C |
10: 77,104,399 (GRCm39) |
R392P |
probably damaging |
Het |
Prpf18 |
T |
C |
2: 4,648,520 (GRCm39) |
D102G |
probably damaging |
Het |
Rreb1 |
T |
A |
13: 38,114,744 (GRCm39) |
I701N |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,052,194 (GRCm39) |
K45R |
probably damaging |
Het |
Slc8a3 |
A |
G |
12: 81,361,032 (GRCm39) |
|
probably null |
Het |
Slf1 |
T |
A |
13: 77,198,106 (GRCm39) |
M723L |
probably benign |
Het |
Spata31e5 |
A |
G |
1: 28,819,141 (GRCm39) |
S47P |
probably benign |
Het |
Sra1 |
T |
C |
18: 36,800,647 (GRCm39) |
T187A |
probably benign |
Het |
Stk17b |
A |
C |
1: 53,815,717 (GRCm39) |
N27K |
probably damaging |
Het |
Tbc1d9 |
T |
A |
8: 83,963,172 (GRCm39) |
Y295N |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 89,000,306 (GRCm39) |
V353A |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,718,749 (GRCm39) |
T2991S |
possibly damaging |
Het |
Urb1 |
G |
A |
16: 90,548,983 (GRCm39) |
R2242* |
probably null |
Het |
Vasp |
T |
C |
7: 18,998,697 (GRCm39) |
N20S |
probably benign |
Het |
Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
probably 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 |
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'- ATAAGGGCCGCACAGAATCC -3'
(R):5'- GAATCTCACTTGGGGCTCTGAG -3'
Sequencing Primer
(F):5'- TCCAGCCAAGTAATTATCATGAAGGG -3'
(R):5'- GCTCTGAGCAGGAAGGAAG -3'
|
Posted On |
2016-06-15 |