Incidental Mutation 'R3432:Cpt1b'
| ID |
266254 |
| 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 |
040650-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89300608-89310065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89307944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 205
(E205G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000109313
AA Change: E205G
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: E205G
| 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: ENSMUST00000166267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170334
|
| 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 |
|
| 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 |
0.4804 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
G |
A |
1: 125,321,776 (GRCm39) |
P405S |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,118,814 (GRCm39) |
V196A |
probably benign |
Het |
| Aoc1 |
A |
T |
6: 48,882,778 (GRCm39) |
H240L |
probably damaging |
Het |
| Arsj |
A |
T |
3: 126,158,624 (GRCm39) |
T68S |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,362,014 (GRCm39) |
K708E |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,448,901 (GRCm39) |
V89E |
probably benign |
Het |
| Dhrs7c |
C |
T |
11: 67,700,699 (GRCm39) |
T82I |
probably benign |
Het |
| Efs |
C |
T |
14: 55,157,681 (GRCm39) |
R117Q |
probably damaging |
Het |
| Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
| Fam89b |
A |
T |
19: 5,781,761 (GRCm39) |
|
probably null |
Het |
| Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
| Glp1r |
T |
A |
17: 31,143,531 (GRCm39) |
L189H |
probably damaging |
Het |
| Gstp1 |
G |
A |
19: 4,086,695 (GRCm39) |
T110I |
possibly damaging |
Het |
| Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
| Il18r1 |
C |
T |
1: 40,526,249 (GRCm39) |
T265M |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,708,636 (GRCm39) |
V447A |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,969,955 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,170,283 (GRCm39) |
E471G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,922,003 (GRCm39) |
L317P |
probably damaging |
Het |
| Or8b57 |
A |
T |
9: 40,003,845 (GRCm39) |
M139K |
probably damaging |
Het |
| Psg18 |
A |
G |
7: 18,083,096 (GRCm39) |
V232A |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 161,769,449 (GRCm39) |
E472G |
probably damaging |
Het |
| Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
| Rbm15 |
A |
T |
3: 107,237,993 (GRCm39) |
S802T |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,996,463 (GRCm39) |
I470V |
possibly damaging |
Het |
| Serpinb1a |
T |
C |
13: 33,026,842 (GRCm39) |
T367A |
possibly damaging |
Het |
| Sirpb1a |
A |
G |
3: 15,491,447 (GRCm39) |
W7R |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,537,787 (GRCm39) |
|
probably benign |
Het |
| Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
| Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
| Zdhhc23 |
T |
A |
16: 43,794,533 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,226,871 (GRCm39) |
A2246V |
probably damaging |
Het |
| Zfp872 |
C |
T |
9: 22,111,750 (GRCm39) |
R410* |
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 |
|
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 |
|
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'- AGACATATTCTTCCCACCAGTC -3'
(R):5'- GCCACAATTCACCGGGTAAG -3'
Sequencing Primer
(F):5'- GTCACTCACCTATGGATAGACATG -3'
(R):5'- ATTCACCGGGTAAGAGTCCC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation