Incidental Mutation 'IGL00332:Cpt1b'
| ID |
4054 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpt1b
|
| Ensembl Gene |
ENSMUSG00000078937 |
| Gene Name |
carnitine palmitoyltransferase 1b, muscle |
| Synonyms |
Cpt1, M-CPTI, M-CPT I |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00332
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89300608-89310065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89305066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 394
(E394G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052315]
[ENSMUST00000109313]
[ENSMUST00000168376]
|
| AlphaFold |
Q924X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109313
AA Change: E394G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: E394G
| 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: ENSMUST00000168376
|
| SMART Domains |
Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LE3|A
|
1 |
42 |
1e-21 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168879
AA Change: E24G
|
| SMART Domains |
Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937
AA Change: E24G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
3 |
148 |
3.5e-34 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,083,737 (GRCm39) |
Y404H |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,620,996 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,378,667 (GRCm39) |
K2107E |
probably damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,233,662 (GRCm39) |
|
probably benign |
Het |
| Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,985 (GRCm39) |
S337G |
probably benign |
Het |
| Arhgef40 |
A |
G |
14: 52,226,417 (GRCm39) |
N154D |
probably damaging |
Het |
| Asb14 |
A |
G |
14: 26,633,998 (GRCm39) |
K401R |
probably benign |
Het |
| Aspn |
C |
A |
13: 49,719,968 (GRCm39) |
T328K |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,463,363 (GRCm39) |
H1042Q |
probably benign |
Het |
| C3 |
A |
G |
17: 57,533,004 (GRCm39) |
L167P |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,977,257 (GRCm39) |
|
probably benign |
Het |
| Cdk10 |
T |
A |
8: 123,957,063 (GRCm39) |
M222K |
possibly damaging |
Het |
| Cfap45 |
C |
T |
1: 172,362,912 (GRCm39) |
|
probably benign |
Het |
| Chil3 |
T |
A |
3: 106,056,017 (GRCm39) |
N352I |
probably damaging |
Het |
| Chn2 |
G |
T |
6: 54,272,907 (GRCm39) |
|
probably null |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Fcgr2b |
T |
A |
1: 170,788,799 (GRCm39) |
N273I |
possibly damaging |
Het |
| Fpr-rs7 |
G |
A |
17: 20,333,480 (GRCm39) |
Q337* |
probably null |
Het |
| Fras1 |
T |
A |
5: 96,887,217 (GRCm39) |
N2666K |
possibly damaging |
Het |
| Gfra3 |
C |
T |
18: 34,824,601 (GRCm39) |
|
probably null |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gpr75 |
C |
T |
11: 30,841,590 (GRCm39) |
T165I |
probably damaging |
Het |
| Gzmd |
A |
T |
14: 56,367,737 (GRCm39) |
C179S |
probably damaging |
Het |
| Hand1 |
T |
G |
11: 57,722,575 (GRCm39) |
H13P |
probably damaging |
Het |
| Irak3 |
C |
T |
10: 120,013,972 (GRCm39) |
|
probably null |
Het |
| Isl2 |
T |
A |
9: 55,452,253 (GRCm39) |
L275Q |
possibly damaging |
Het |
| Itgb2 |
T |
C |
10: 77,393,240 (GRCm39) |
V367A |
probably damaging |
Het |
| Katna1 |
T |
C |
10: 7,638,758 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,184,450 (GRCm39) |
M1627T |
probably benign |
Het |
| Naprt |
A |
G |
15: 75,765,164 (GRCm39) |
Y187H |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,642,371 (GRCm39) |
V550E |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,884,954 (GRCm39) |
V252A |
possibly damaging |
Het |
| Or8k39 |
T |
C |
2: 86,563,579 (GRCm39) |
I126V |
possibly damaging |
Het |
| Or9i16 |
C |
T |
19: 13,864,945 (GRCm39) |
V210I |
probably benign |
Het |
| P2ry2 |
A |
G |
7: 100,647,393 (GRCm39) |
V304A |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,674,593 (GRCm39) |
N108D |
probably benign |
Het |
| Pdgfrl |
A |
G |
8: 41,438,660 (GRCm39) |
T199A |
probably damaging |
Het |
| Plaa |
A |
G |
4: 94,470,844 (GRCm39) |
Y431H |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,664,472 (GRCm39) |
I177N |
possibly damaging |
Het |
| Plxna2 |
T |
C |
1: 194,472,138 (GRCm39) |
F1035L |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,564,729 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
C |
13: 35,067,890 (GRCm39) |
S240P |
probably benign |
Het |
| Reg2 |
T |
A |
6: 78,383,204 (GRCm39) |
Y50* |
probably null |
Het |
| Rev3l |
C |
T |
10: 39,682,965 (GRCm39) |
T361I |
probably benign |
Het |
| Rps4l |
A |
G |
6: 148,256,383 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,598,982 (GRCm39) |
F1183I |
probably damaging |
Het |
| Sh2b2 |
T |
C |
5: 136,253,273 (GRCm39) |
E327G |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,965,584 (GRCm39) |
K1057R |
probably damaging |
Het |
| Sim2 |
T |
A |
16: 93,915,803 (GRCm39) |
Y255* |
probably null |
Het |
| Snx9 |
A |
G |
17: 5,949,636 (GRCm39) |
N112S |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,258,237 (GRCm39) |
I169F |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,100,111 (GRCm39) |
T43A |
probably benign |
Het |
| Stac2 |
C |
T |
11: 97,932,005 (GRCm39) |
S265N |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,670,044 (GRCm39) |
V91A |
probably damaging |
Het |
| Tgfbr2 |
C |
T |
9: 115,939,257 (GRCm39) |
R190H |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,301,916 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
C |
T |
5: 102,063,204 (GRCm39) |
|
probably null |
Het |
| Wdr82 |
T |
C |
9: 106,061,449 (GRCm39) |
V166A |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,307,401 (GRCm39) |
A209V |
probably damaging |
Het |
| Zfp518b |
T |
A |
5: 38,831,109 (GRCm39) |
T299S |
possibly damaging |
Het |
|
| Other mutations in Cpt1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation