Incidental Mutation 'IGL02612:Crot'
ID |
300526 |
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 # |
IGL02612
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9019945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 466
(C466R)
|
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 damaging
Transcript: ENSMUST00000003720
AA Change: C466R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003720 Gene: ENSMUSG00000003623 AA Change: C466R
Domain | Start | End | E-Value | Type |
Pfam:Carn_acyltransf
|
20 |
604 |
2.3e-167 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120584
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146115
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,654,971 (GRCm39) |
M1432L |
probably benign |
Het |
Alg11 |
A |
G |
8: 22,551,999 (GRCm39) |
R48G |
probably benign |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Bmp4 |
T |
A |
14: 46,621,938 (GRCm39) |
D202V |
probably damaging |
Het |
Car12 |
T |
G |
9: 66,669,706 (GRCm39) |
L300R |
probably damaging |
Het |
Cdc37l1 |
T |
A |
19: 28,993,502 (GRCm39) |
*336R |
probably null |
Het |
Cep89 |
A |
G |
7: 35,124,080 (GRCm39) |
|
probably null |
Het |
Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,445,033 (GRCm39) |
D338G |
probably damaging |
Het |
Dach2 |
T |
C |
X: 112,660,101 (GRCm39) |
M194T |
probably benign |
Het |
Dmrtc1b |
A |
G |
X: 101,756,873 (GRCm39) |
D100G |
probably benign |
Het |
Epm2a |
G |
A |
10: 11,332,980 (GRCm39) |
R271H |
probably damaging |
Het |
Fem1c |
G |
T |
18: 46,638,781 (GRCm39) |
T407K |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,889,848 (GRCm39) |
Y273C |
probably damaging |
Het |
Foxc2 |
C |
A |
8: 121,844,576 (GRCm39) |
A408E |
probably benign |
Het |
Gbp10 |
A |
T |
5: 105,366,368 (GRCm39) |
M512K |
possibly damaging |
Het |
Gm5134 |
T |
C |
10: 75,828,323 (GRCm39) |
L301P |
probably damaging |
Het |
Grk3 |
A |
T |
5: 113,117,100 (GRCm39) |
D100E |
probably benign |
Het |
Gsdma3 |
T |
A |
11: 98,526,707 (GRCm39) |
D322E |
probably damaging |
Het |
Gucy1a2 |
C |
A |
9: 3,894,556 (GRCm39) |
L680I |
possibly damaging |
Het |
Ighv7-2 |
T |
C |
12: 113,875,766 (GRCm39) |
Y79C |
probably damaging |
Het |
Igkv4-50 |
T |
C |
6: 69,678,024 (GRCm39) |
T27A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,106,404 (GRCm39) |
D1002G |
probably damaging |
Het |
Map4k5 |
T |
A |
12: 69,896,358 (GRCm39) |
I169F |
possibly damaging |
Het |
Mink1 |
T |
C |
11: 70,488,052 (GRCm39) |
V39A |
probably damaging |
Het |
Mms22l |
T |
A |
4: 24,508,482 (GRCm39) |
H301Q |
probably benign |
Het |
Myh4 |
C |
T |
11: 67,147,305 (GRCm39) |
T1650I |
probably benign |
Het |
Or52n4 |
A |
T |
7: 104,293,870 (GRCm39) |
D234E |
probably benign |
Het |
Or8b37 |
T |
A |
9: 37,958,662 (GRCm39) |
L48Q |
probably damaging |
Het |
Or8b44 |
T |
C |
9: 38,410,769 (GRCm39) |
M268T |
probably benign |
Het |
Pate10 |
T |
C |
9: 35,653,460 (GRCm39) |
I88T |
possibly damaging |
Het |
Pbxip1 |
C |
T |
3: 89,350,988 (GRCm39) |
T117M |
probably damaging |
Het |
Pgghg |
C |
T |
7: 140,526,251 (GRCm39) |
T572M |
probably damaging |
Het |
Phactr2 |
G |
A |
10: 13,121,167 (GRCm39) |
T511I |
probably damaging |
Het |
Pip5k1a |
T |
C |
3: 94,974,724 (GRCm39) |
I385V |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,018,828 (GRCm39) |
C60R |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rttn |
G |
T |
18: 88,991,750 (GRCm39) |
D110Y |
probably damaging |
Het |
Setbp1 |
G |
T |
18: 78,798,925 (GRCm39) |
H1418Q |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,569,608 (GRCm39) |
I37V |
probably benign |
Het |
Slc27a6 |
A |
T |
18: 58,689,977 (GRCm39) |
I148F |
probably benign |
Het |
Slmap |
A |
G |
14: 26,180,621 (GRCm39) |
|
probably benign |
Het |
Speer4a3 |
A |
C |
5: 26,156,614 (GRCm39) |
Y122D |
probably benign |
Het |
Stil |
A |
G |
4: 114,880,893 (GRCm39) |
Q479R |
possibly damaging |
Het |
Svop |
A |
G |
5: 114,166,321 (GRCm39) |
*549Q |
probably null |
Het |
Tnks |
C |
T |
8: 35,316,453 (GRCm39) |
V889I |
possibly damaging |
Het |
Tnrc6c |
T |
A |
11: 117,633,826 (GRCm39) |
V1308E |
possibly damaging |
Het |
Vmn1r208 |
C |
A |
13: 22,956,993 (GRCm39) |
C168F |
probably damaging |
Het |
Vmn2r117 |
A |
T |
17: 23,678,758 (GRCm39) |
M822K |
possibly damaging |
Het |
Vwa8 |
A |
G |
14: 79,420,552 (GRCm39) |
N1751S |
probably benign |
Het |
Vwde |
A |
T |
6: 13,187,148 (GRCm39) |
F780I |
probably damaging |
Het |
Washc2 |
T |
C |
6: 116,197,577 (GRCm39) |
I184T |
possibly damaging |
Het |
Wdr26 |
A |
T |
1: 181,005,361 (GRCm39) |
|
probably benign |
Het |
Zfp608 |
G |
A |
18: 55,031,273 (GRCm39) |
T889M |
probably damaging |
Het |
Zfp955a |
G |
T |
17: 33,463,039 (GRCm39) |
Q31K |
probably damaging |
Het |
Zpbp2 |
T |
C |
11: 98,446,343 (GRCm39) |
L145S |
probably benign |
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 |
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 |
|
IGL03356:Crot
|
APN |
5 |
9,038,295 (GRCm39) |
splice site |
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 |
2015-04-16 |