Incidental Mutation 'R8394:Cpt1b'
ID |
647543 |
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 |
067758-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8394 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89300608-89310065 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 89306490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023289]
[ENSMUST00000052315]
[ENSMUST00000109313]
[ENSMUST00000168376]
[ENSMUST00000171666]
|
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 |
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 |
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
T |
C |
14: 59,379,623 (GRCm39) |
N137S |
probably benign |
Het |
4930505A04Rik |
T |
A |
11: 30,404,880 (GRCm39) |
|
probably null |
Het |
Abcc8 |
A |
G |
7: 45,803,977 (GRCm39) |
I399T |
probably benign |
Het |
Aldh3b2 |
A |
C |
19: 4,029,461 (GRCm39) |
Q278P |
probably benign |
Het |
Arl8b |
A |
G |
6: 108,760,244 (GRCm39) |
D10G |
possibly damaging |
Het |
Baiap3 |
T |
C |
17: 25,469,096 (GRCm39) |
N229S |
probably benign |
Het |
Chrdl2 |
T |
C |
7: 99,666,292 (GRCm39) |
S71P |
possibly damaging |
Het |
Cmbl |
A |
G |
15: 31,585,541 (GRCm39) |
M142V |
possibly damaging |
Het |
Crybg3 |
T |
C |
16: 59,378,651 (GRCm39) |
K868E |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,411,986 (GRCm39) |
I792V |
probably benign |
Het |
Evx2 |
A |
G |
2: 74,486,321 (GRCm39) |
L356S |
probably benign |
Het |
Hspa14 |
C |
T |
2: 3,513,670 (GRCm39) |
|
probably null |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Il7r |
A |
G |
15: 9,516,504 (GRCm39) |
F99S |
probably damaging |
Het |
Klra2 |
A |
T |
6: 131,222,273 (GRCm39) |
V6D |
possibly damaging |
Het |
Lce3c |
T |
C |
3: 92,852,760 (GRCm39) |
S74P |
unknown |
Het |
Nectin2 |
C |
T |
7: 19,467,137 (GRCm39) |
|
probably null |
Het |
Nfil3 |
A |
G |
13: 53,121,849 (GRCm39) |
S352P |
probably benign |
Het |
Nme6 |
T |
A |
9: 109,664,394 (GRCm39) |
M1K |
probably null |
Het |
Or52z13 |
A |
T |
7: 103,247,404 (GRCm39) |
I294F |
probably damaging |
Het |
Otogl |
A |
G |
10: 107,722,326 (GRCm39) |
|
probably null |
Het |
Plcb1 |
T |
C |
2: 135,159,710 (GRCm39) |
V391A |
probably damaging |
Het |
Ptf1a |
T |
A |
2: 19,450,746 (GRCm39) |
D25E |
probably damaging |
Het |
Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
Scube1 |
T |
C |
15: 83,492,492 (GRCm39) |
Y944C |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,729,542 (GRCm39) |
I1039T |
probably benign |
Het |
Senp7 |
G |
T |
16: 55,990,190 (GRCm39) |
W646L |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,253,797 (GRCm39) |
N1317K |
probably benign |
Het |
Strc |
G |
T |
2: 121,209,490 (GRCm39) |
Q278K |
probably benign |
Het |
Tbc1d30 |
T |
A |
10: 121,183,013 (GRCm39) |
R142* |
probably null |
Het |
Tmtc3 |
T |
C |
10: 100,282,808 (GRCm39) |
I916V |
probably damaging |
Het |
Tomm40l |
A |
T |
1: 171,048,776 (GRCm39) |
H79Q |
probably damaging |
Het |
Txndc12 |
T |
A |
4: 108,713,420 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
T |
C |
3: 64,044,858 (GRCm39) |
N96S |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,168,776 (GRCm39) |
T785A |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,011,862 (GRCm39) |
D1276G |
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 |
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 |
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'- GCTGTAGTCCAGTACCTGTCTC -3'
(R):5'- CATAGAGAGGGGATGCAACTCC -3'
Sequencing Primer
(F):5'- AGTACCTGTCTCTTTGCCTGGG -3'
(R):5'- TCCTTAAGCTAGTGAGACTCAGG -3'
|
Posted On |
2020-09-02 |