Incidental Mutation 'R1633:Cpt1b'
| ID |
172943 |
| 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 |
039670-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1633 (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 89303018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 649
(T649A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052315]
[ENSMUST00000109313]
|
| AlphaFold |
Q924X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052315
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109313
AA Change: T649A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: T649A
| 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: 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 |
0.2747 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.9%
- 20x: 83.9%
|
| Validation Efficiency |
94% (68/72) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
C |
T |
1: 127,681,592 (GRCm39) |
A185V |
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,219,224 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
A |
G |
12: 84,973,057 (GRCm39) |
F580S |
probably damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,965,871 (GRCm39) |
|
probably benign |
Het |
| Bpifb3 |
T |
A |
2: 153,764,504 (GRCm39) |
L132Q |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,525,114 (GRCm39) |
D516E |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,586,793 (GRCm39) |
R882G |
unknown |
Het |
| Cep162 |
T |
C |
9: 87,085,736 (GRCm39) |
E1196G |
probably benign |
Het |
| Cttnbp2 |
A |
T |
6: 18,435,166 (GRCm39) |
S231T |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,028,927 (GRCm39) |
T44A |
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,253,869 (GRCm39) |
S536P |
probably damaging |
Het |
| Eif5 |
T |
A |
12: 111,506,721 (GRCm39) |
N104K |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,671,680 (GRCm39) |
Y438C |
probably damaging |
Het |
| Ess2 |
A |
G |
16: 17,727,831 (GRCm39) |
V116A |
probably benign |
Het |
| Galnt4 |
T |
C |
10: 98,945,814 (GRCm39) |
V513A |
possibly damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,097,720 (GRCm39) |
I172T |
probably benign |
Het |
| Ggt7 |
C |
T |
2: 155,344,608 (GRCm39) |
G245D |
probably damaging |
Het |
| Gm5884 |
A |
T |
6: 128,623,028 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
G |
A |
7: 55,879,117 (GRCm39) |
G4669R |
probably null |
Het |
| Hydin |
T |
A |
8: 111,233,614 (GRCm39) |
D1817E |
probably benign |
Het |
| Igf2r |
A |
C |
17: 12,945,196 (GRCm39) |
N359K |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,898,586 (GRCm39) |
F1722L |
probably damaging |
Het |
| Itih3 |
T |
A |
14: 30,639,355 (GRCm39) |
E406V |
possibly damaging |
Het |
| Lamc2 |
A |
T |
1: 153,017,444 (GRCm39) |
C514* |
probably null |
Het |
| Mepe |
G |
T |
5: 104,485,540 (GRCm39) |
V227F |
probably benign |
Het |
| Nadk |
C |
T |
4: 155,661,642 (GRCm39) |
T56I |
probably damaging |
Het |
| Nedd4 |
G |
A |
9: 72,578,539 (GRCm39) |
V84I |
possibly damaging |
Het |
| Nipal3 |
C |
A |
4: 135,174,659 (GRCm39) |
R364L |
probably benign |
Het |
| Nkx2-9 |
T |
C |
12: 56,659,766 (GRCm39) |
R27G |
probably benign |
Het |
| Noc2l |
T |
A |
4: 156,329,750 (GRCm39) |
S600T |
probably benign |
Het |
| Or1l4b |
T |
A |
2: 37,036,983 (GRCm39) |
I253N |
probably damaging |
Het |
| Or1o3 |
T |
A |
17: 37,574,553 (GRCm39) |
M1L |
probably benign |
Het |
| Or2c1 |
A |
C |
16: 3,657,396 (GRCm39) |
K186N |
probably damaging |
Het |
| Pax6 |
A |
T |
2: 105,522,063 (GRCm39) |
E240V |
probably damaging |
Het |
| Pdilt |
T |
G |
7: 119,087,217 (GRCm39) |
T478P |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,629,619 (GRCm39) |
I25F |
probably damaging |
Het |
| Rad50 |
C |
T |
11: 53,583,686 (GRCm39) |
R365Q |
probably benign |
Het |
| Rdh10 |
A |
G |
1: 16,198,420 (GRCm39) |
E186G |
possibly damaging |
Het |
| Rdh12 |
A |
T |
12: 79,265,498 (GRCm39) |
E224V |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,922,964 (GRCm39) |
V413A |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,696 (GRCm39) |
I1392V |
probably benign |
Het |
| Simc1 |
G |
A |
13: 54,673,044 (GRCm39) |
G464D |
probably benign |
Het |
| Srf |
A |
T |
17: 46,862,534 (GRCm39) |
V318E |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,872,337 (GRCm39) |
|
probably null |
Het |
| Stk3 |
T |
C |
15: 34,959,206 (GRCm39) |
D322G |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,430,986 (GRCm39) |
|
probably benign |
Het |
| Sult2a1 |
A |
G |
7: 13,535,351 (GRCm39) |
I234T |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,299,388 (GRCm39) |
F956L |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,631,771 (GRCm39) |
I910N |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,471,103 (GRCm39) |
S505* |
probably null |
Het |
| Tmem63a |
T |
A |
1: 180,776,391 (GRCm39) |
V67E |
probably damaging |
Het |
| Tram2 |
A |
T |
1: 21,074,146 (GRCm39) |
V264E |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,652,854 (GRCm39) |
C106* |
probably null |
Het |
| Tspyl5 |
T |
A |
15: 33,686,791 (GRCm39) |
K385* |
probably null |
Het |
| Vezt |
T |
A |
10: 93,820,138 (GRCm39) |
Q409L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,687,042 (GRCm39) |
C808R |
possibly damaging |
Het |
| Wdfy3 |
A |
C |
5: 102,129,414 (GRCm39) |
V4G |
probably damaging |
Het |
| Wdr95 |
A |
T |
5: 149,516,637 (GRCm39) |
I493F |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,465,473 (GRCm39) |
N1877I |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,226 (GRCm39) |
D215G |
probably benign |
Het |
| Zfp442 |
A |
T |
2: 150,250,260 (GRCm39) |
Y490* |
probably null |
Het |
| Zfp804b |
A |
G |
5: 7,229,513 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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'- TTCTCACAAGCACTGTCACCATCTG -3'
(R):5'- ACTGAGACTGTGCGTTCCTGTACC -3'
Sequencing Primer
(F):5'- tcaccatctggcagaacac -3'
(R):5'- TGCGTTCCTGTACCAACGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation