Incidental Mutation 'R4574:Cpt1b'
ID |
343495 |
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 |
041797-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4574 (G1)
|
Quality Score |
212 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
89300608-89310065 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 89308247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
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: ENSMUST00000112664
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115278
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171140
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165623
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170334
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166267
|
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: 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: 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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (63/65) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
Adamts9 |
G |
A |
6: 92,856,940 (GRCm39) |
R319* |
probably null |
Het |
Anapc1 |
G |
T |
2: 128,469,115 (GRCm39) |
S1575R |
probably damaging |
Het |
Appbp2 |
A |
T |
11: 85,100,764 (GRCm39) |
|
probably null |
Het |
Bcas2 |
C |
T |
3: 103,081,666 (GRCm39) |
P90S |
probably benign |
Het |
Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
Cd101 |
T |
C |
3: 100,920,469 (GRCm39) |
N477D |
probably benign |
Het |
Cdk12 |
A |
G |
11: 98,111,814 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,290,804 (GRCm39) |
E634G |
probably benign |
Het |
Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
Ctf2 |
T |
G |
7: 127,318,556 (GRCm39) |
T148P |
possibly damaging |
Het |
Ddx23 |
G |
A |
15: 98,545,505 (GRCm39) |
T601I |
probably damaging |
Het |
Dlx6 |
G |
T |
6: 6,865,305 (GRCm39) |
|
probably benign |
Het |
Dmrtb1 |
A |
T |
4: 107,534,265 (GRCm39) |
N183K |
possibly damaging |
Het |
Dnah11 |
A |
G |
12: 117,975,990 (GRCm39) |
|
probably null |
Het |
Dnah5 |
C |
T |
15: 28,367,909 (GRCm39) |
P2765S |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
Fpr-rs6 |
T |
A |
17: 20,403,359 (GRCm39) |
M1L |
probably damaging |
Het |
Gm4841 |
T |
C |
18: 60,402,998 (GRCm39) |
N365S |
probably benign |
Het |
Gsdmc2 |
C |
T |
15: 63,699,872 (GRCm39) |
|
probably null |
Het |
Irx5 |
G |
A |
8: 93,084,890 (GRCm39) |
V27I |
probably damaging |
Het |
Kmt2e |
T |
A |
5: 23,697,405 (GRCm39) |
V101D |
possibly damaging |
Het |
Maip1 |
A |
C |
1: 57,452,404 (GRCm39) |
K219Q |
possibly damaging |
Het |
Mpp7 |
G |
T |
18: 7,353,228 (GRCm39) |
R493S |
probably benign |
Het |
Ms4a14 |
T |
C |
19: 11,281,335 (GRCm39) |
T408A |
probably benign |
Het |
Mthfr |
A |
G |
4: 148,127,998 (GRCm39) |
N117S |
possibly damaging |
Het |
Mtres1 |
T |
A |
10: 43,409,006 (GRCm39) |
S46C |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,176,893 (GRCm39) |
I613V |
probably benign |
Het |
Neurl1b |
A |
G |
17: 26,650,860 (GRCm39) |
Q44R |
probably benign |
Het |
Nup54 |
T |
A |
5: 92,573,641 (GRCm39) |
N187I |
probably benign |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Or5ak22 |
C |
A |
2: 85,230,370 (GRCm39) |
C169F |
probably damaging |
Het |
Pate2 |
C |
A |
9: 35,596,969 (GRCm39) |
|
probably benign |
Het |
Pccb |
T |
C |
9: 100,867,252 (GRCm39) |
S445G |
probably damaging |
Het |
Pex3 |
G |
A |
10: 13,411,315 (GRCm39) |
Q188* |
probably null |
Het |
Pikfyve |
T |
A |
1: 65,231,351 (GRCm39) |
W74R |
probably damaging |
Het |
Plcl2 |
T |
C |
17: 50,914,874 (GRCm39) |
S628P |
probably damaging |
Het |
Pnldc1 |
T |
C |
17: 13,111,669 (GRCm39) |
H346R |
probably benign |
Het |
Pom121l2 |
T |
A |
13: 22,168,572 (GRCm39) |
C948S |
probably benign |
Het |
Pspc1 |
A |
T |
14: 56,999,404 (GRCm39) |
M284K |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,277,919 (GRCm39) |
L414S |
probably damaging |
Het |
Rgs13 |
T |
A |
1: 144,016,583 (GRCm39) |
K53N |
probably damaging |
Het |
Rorc |
T |
C |
3: 94,296,291 (GRCm39) |
S163P |
probably benign |
Het |
Rpl3l |
A |
C |
17: 24,952,984 (GRCm39) |
T315P |
possibly damaging |
Het |
Rsph3b |
A |
G |
17: 7,172,438 (GRCm39) |
V487A |
probably benign |
Het |
Rusc2 |
A |
G |
4: 43,416,080 (GRCm39) |
E462G |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,576,344 (GRCm39) |
T838A |
probably damaging |
Het |
Slc22a14 |
A |
G |
9: 119,008,561 (GRCm39) |
Y236H |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,442,457 (GRCm39) |
R1984H |
probably damaging |
Het |
Steap3 |
G |
T |
1: 120,169,186 (GRCm39) |
D370E |
probably benign |
Het |
Sumf1 |
A |
G |
6: 108,085,393 (GRCm39) |
|
probably benign |
Het |
Telo2 |
T |
C |
17: 25,320,647 (GRCm39) |
E754G |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,972,353 (GRCm39) |
F604L |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,639,131 (GRCm39) |
D1734E |
probably benign |
Het |
Tsfm |
A |
C |
10: 126,864,242 (GRCm39) |
Y158D |
probably damaging |
Het |
Ubtf |
T |
C |
11: 102,197,591 (GRCm39) |
|
probably benign |
Het |
Upk3a |
G |
T |
15: 84,904,752 (GRCm39) |
V167F |
possibly damaging |
Het |
Vmn2r19 |
C |
T |
6: 123,292,939 (GRCm39) |
S327L |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,858,965 (GRCm39) |
I2805N |
probably damaging |
Het |
Zfp592 |
A |
G |
7: 80,673,534 (GRCm39) |
D166G |
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 |
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'- ATAAGGGCCGCACAGAATCC -3'
(R):5'- GAATCTCACTTGGGGCTCTGAG -3'
Sequencing Primer
(F):5'- TCCAGCCAAGTAATTATCATGAAGGG -3'
(R):5'- GCTCTGAGCAGGAAGGAAG -3'
|
Posted On |
2015-09-24 |