Incidental Mutation 'IGL03356:Crot'
| ID |
419969 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crot
|
| Ensembl Gene |
ENSMUSG00000003623 |
| Gene Name |
carnitine O-octanoyltransferase |
| Synonyms |
1200003H03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL03356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 9038295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003720]
|
| AlphaFold |
Q9DC50 |
| PDB Structure |
Crystal Structure of Mouse Carnitine Octanoyltransferase [X-RAY DIFFRACTION]
Crystal structure of mouse carnitine octanoyltransferase in complex with octanoylcarnitine [X-RAY DIFFRACTION]
C323M mutant structure of mouse carnitine octanoyltransferase [X-RAY DIFFRACTION]
M335V mutant structure of mouse carnitine octanoyltransferase [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003720
|
| SMART Domains |
Protein: ENSMUSP00000003720
Gene: ENSMUSG00000003623
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
20 |
604 |
2.3e-167 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157024
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
C |
15: 60,791,737 (GRCm39) |
M233R |
probably benign |
Het |
| Aadat |
T |
C |
8: 60,984,725 (GRCm39) |
M256T |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,410 (GRCm39) |
N889S |
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,881,937 (GRCm39) |
I235N |
probably damaging |
Het |
| Card6 |
C |
T |
15: 5,129,723 (GRCm39) |
A558T |
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,186,667 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
A |
G |
19: 39,628,405 (GRCm39) |
S180P |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,692,816 (GRCm39) |
N81S |
possibly damaging |
Het |
| Dennd3 |
C |
T |
15: 73,440,482 (GRCm39) |
T1171M |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,953,069 (GRCm39) |
N248K |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,265,769 (GRCm39) |
I439T |
probably benign |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,443 (GRCm39) |
I158T |
possibly damaging |
Het |
| Grm3 |
T |
C |
5: 9,562,206 (GRCm39) |
D548G |
possibly damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,514 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,966,217 (GRCm39) |
|
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 120,992,389 (GRCm39) |
E113G |
probably damaging |
Het |
| Hspa4 |
C |
A |
11: 53,160,627 (GRCm39) |
R483L |
probably damaging |
Het |
| Ik |
C |
A |
18: 36,889,657 (GRCm39) |
S490R |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,072,035 (GRCm39) |
V86M |
possibly damaging |
Het |
| Mfsd4b1 |
A |
C |
10: 39,878,827 (GRCm39) |
F357V |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,821,813 (GRCm39) |
V54A |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,509,544 (GRCm39) |
I92T |
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,043,908 (GRCm39) |
S75P |
probably damaging |
Het |
| Oca2 |
T |
G |
7: 56,185,716 (GRCm39) |
M814R |
probably benign |
Het |
| Phlpp2 |
A |
G |
8: 110,662,249 (GRCm39) |
T879A |
probably benign |
Het |
| Potefam3e |
A |
G |
8: 19,799,463 (GRCm39) |
I304V |
probably benign |
Het |
| Rpe65 |
A |
T |
3: 159,321,214 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,930,333 (GRCm39) |
K230R |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,270,342 (GRCm39) |
T297A |
probably benign |
Het |
| Slpi |
T |
C |
2: 164,198,129 (GRCm39) |
T22A |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,784,280 (GRCm39) |
F286S |
probably damaging |
Het |
| Tektl1 |
A |
G |
10: 78,582,966 (GRCm39) |
C473R |
possibly damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,690 (GRCm39) |
I519K |
probably benign |
Het |
| Tyr |
G |
T |
7: 87,141,922 (GRCm39) |
L136I |
possibly damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,613,970 (GRCm39) |
M256K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,194,517 (GRCm39) |
C1258* |
probably null |
Het |
|
| Other mutations in Crot |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00756:Crot
|
APN |
5 |
9,026,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Crot
|
APN |
5 |
9,043,575 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01085:Crot
|
APN |
5 |
9,023,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02017:Crot
|
APN |
5 |
9,020,046 (GRCm39) |
splice site |
probably benign |
|
|
IGL02306:Crot
|
APN |
5 |
9,018,701 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02612:Crot
|
APN |
5 |
9,019,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Crot
|
APN |
5 |
9,028,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03091:Crot
|
APN |
5 |
9,016,897 (GRCm39) |
missense |
probably benign |
|
|
ouray
|
UTSW |
5 |
9,043,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0383:Crot
|
UTSW |
5 |
9,018,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Crot
|
UTSW |
5 |
9,019,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0502:Crot
|
UTSW |
5 |
9,026,075 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0503:Crot
|
UTSW |
5 |
9,026,075 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0676:Crot
|
UTSW |
5 |
9,043,622 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1079:Crot
|
UTSW |
5 |
9,043,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1472:Crot
|
UTSW |
5 |
9,016,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Crot
|
UTSW |
5 |
9,024,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1757:Crot
|
UTSW |
5 |
9,037,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Crot
|
UTSW |
5 |
9,019,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1846:Crot
|
UTSW |
5 |
9,038,248 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2142:Crot
|
UTSW |
5 |
9,037,780 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3973:Crot
|
UTSW |
5 |
9,027,541 (GRCm39) |
missense |
probably benign |
|
|
R3974:Crot
|
UTSW |
5 |
9,027,541 (GRCm39) |
missense |
probably benign |
|
|
R3975:Crot
|
UTSW |
5 |
9,027,541 (GRCm39) |
missense |
probably benign |
|
|
R4445:Crot
|
UTSW |
5 |
9,023,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Crot
|
UTSW |
5 |
9,023,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Crot
|
UTSW |
5 |
9,024,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Crot
|
UTSW |
5 |
9,019,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Crot
|
UTSW |
5 |
9,033,690 (GRCm39) |
splice site |
probably null |
|
|
R5673:Crot
|
UTSW |
5 |
9,038,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5814:Crot
|
UTSW |
5 |
9,023,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5935:Crot
|
UTSW |
5 |
9,024,192 (GRCm39) |
missense |
probably benign |
|
|
R5951:Crot
|
UTSW |
5 |
9,019,120 (GRCm39) |
nonsense |
probably null |
|
|
R6862:Crot
|
UTSW |
5 |
9,039,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6885:Crot
|
UTSW |
5 |
9,023,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6983:Crot
|
UTSW |
5 |
9,028,280 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7150:Crot
|
UTSW |
5 |
9,037,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7228:Crot
|
UTSW |
5 |
9,026,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:Crot
|
UTSW |
5 |
9,027,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Crot
|
UTSW |
5 |
9,019,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Crot
|
UTSW |
5 |
9,018,869 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8002:Crot
|
UTSW |
5 |
9,043,599 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8105:Crot
|
UTSW |
5 |
9,027,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8233:Crot
|
UTSW |
5 |
9,026,027 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8474:Crot
|
UTSW |
5 |
9,043,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Crot
|
UTSW |
5 |
9,023,629 (GRCm39) |
missense |
probably benign |
|
|
R8734:Crot
|
UTSW |
5 |
9,028,208 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9528:Crot
|
UTSW |
5 |
9,043,575 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9649:Crot
|
UTSW |
5 |
9,024,170 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2016-08-02 |
Incidental Mutation