Incidental Mutation 'IGL03091:Crot'
| ID |
418368 |
| 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 # |
IGL03091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9016897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 598
(H598Q)
|
| 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
AA Change: H598Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003720
Gene: ENSMUSG00000003623
AA Change: H598Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
20 |
604 |
2.3e-167 |
PFAM |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
A |
T |
4: 126,352,982 (GRCm39) |
Y314N |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,219 (GRCm39) |
T78A |
possibly damaging |
Het |
| Arhgap33 |
G |
A |
7: 30,227,718 (GRCm39) |
P494S |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,943,022 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,691,386 (GRCm39) |
V174A |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,470,863 (GRCm39) |
R811C |
probably damaging |
Het |
| Dtx2 |
C |
T |
5: 136,041,228 (GRCm39) |
S211L |
probably damaging |
Het |
| Duox2 |
T |
G |
2: 122,119,955 (GRCm39) |
M852L |
probably benign |
Het |
| Fmc1 |
G |
T |
6: 38,516,170 (GRCm39) |
S72I |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,951 (GRCm39) |
C302R |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,786,615 (GRCm39) |
T184A |
possibly damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,542,828 (GRCm39) |
T29I |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,721,307 (GRCm39) |
|
probably null |
Het |
| Lipe |
A |
G |
7: 25,080,180 (GRCm39) |
L926P |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,993 (GRCm39) |
I2511F |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,992,725 (GRCm39) |
S294P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,161,324 (GRCm39) |
H2156L |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,885,951 (GRCm39) |
N335K |
probably damaging |
Het |
| Nox3 |
G |
T |
17: 3,716,119 (GRCm39) |
Q429K |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,441,076 (GRCm39) |
Y102* |
probably null |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,564 (GRCm39) |
R1671G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,503 (GRCm39) |
T504A |
possibly damaging |
Het |
| Pou5f1 |
G |
T |
17: 35,820,939 (GRCm39) |
R127L |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,523,174 (GRCm39) |
|
probably benign |
Het |
| Rassf8 |
T |
A |
6: 145,761,536 (GRCm39) |
N287K |
probably benign |
Het |
| Rdh16 |
T |
C |
10: 127,649,502 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,782,911 (GRCm39) |
A1901V |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,345,906 (GRCm39) |
Y343C |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,538,880 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,034,791 (GRCm39) |
V310M |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,646,222 (GRCm39) |
I477F |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,195,786 (GRCm39) |
H548Q |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,319 (GRCm39) |
M547I |
possibly damaging |
Het |
| Tuba8 |
G |
A |
6: 121,197,403 (GRCm39) |
E22K |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,438,968 (GRCm39) |
F364L |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,724 (GRCm39) |
Y608H |
probably damaging |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation