Incidental Mutation 'IGL01085:Crot'
ID |
51069 |
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 # |
IGL01085
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9023955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 387
(H387R)
|
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: H387R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000003720 Gene: ENSMUSG00000003623 AA Change: H387R
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
G |
3: 59,944,763 (GRCm39) |
|
probably benign |
Het |
Acp7 |
T |
C |
7: 28,310,478 (GRCm39) |
Y453C |
probably damaging |
Het |
Bop1 |
T |
C |
15: 76,337,576 (GRCm39) |
D683G |
probably damaging |
Het |
Cacna1b |
G |
T |
2: 24,569,006 (GRCm39) |
R974S |
probably damaging |
Het |
Ceacam23 |
A |
T |
7: 17,649,616 (GRCm39) |
H729L |
possibly damaging |
Het |
Cenpt |
T |
C |
8: 106,573,297 (GRCm39) |
E350G |
possibly damaging |
Het |
Cep112 |
G |
T |
11: 108,377,432 (GRCm39) |
R270L |
probably damaging |
Het |
Crem |
T |
C |
18: 3,299,236 (GRCm39) |
T26A |
probably damaging |
Het |
Fdxr |
A |
T |
11: 115,160,402 (GRCm39) |
V351E |
probably benign |
Het |
Fkbpl |
T |
C |
17: 34,864,718 (GRCm39) |
L162P |
probably damaging |
Het |
Fmn2 |
T |
A |
1: 174,523,220 (GRCm39) |
N1358K |
probably damaging |
Het |
Hectd4 |
G |
T |
5: 121,469,764 (GRCm39) |
G2553V |
probably damaging |
Het |
Ifna16 |
A |
T |
4: 88,594,969 (GRCm39) |
I42K |
probably benign |
Het |
Igfals |
C |
T |
17: 25,100,634 (GRCm39) |
T575I |
probably benign |
Het |
Il6 |
G |
T |
5: 30,218,487 (GRCm39) |
V28F |
probably damaging |
Het |
Irx1 |
A |
G |
13: 72,107,816 (GRCm39) |
S289P |
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,219,303 (GRCm39) |
T1245A |
possibly damaging |
Het |
Nr3c2 |
G |
T |
8: 77,634,983 (GRCm39) |
R28L |
probably benign |
Het |
Nudt5 |
G |
A |
2: 5,869,238 (GRCm39) |
V155I |
probably benign |
Het |
Or9s13 |
G |
T |
1: 92,547,921 (GRCm39) |
V98F |
possibly damaging |
Het |
Pcm1 |
T |
C |
8: 41,762,640 (GRCm39) |
S1395P |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,426,148 (GRCm39) |
|
probably null |
Het |
Prodh |
A |
T |
16: 17,894,208 (GRCm39) |
V339E |
probably damaging |
Het |
Rbm48 |
C |
T |
5: 3,634,762 (GRCm39) |
V401M |
probably benign |
Het |
Retreg3 |
G |
A |
11: 100,991,751 (GRCm39) |
Q61* |
probably null |
Het |
Rif1 |
A |
G |
2: 51,975,152 (GRCm39) |
M354V |
possibly damaging |
Het |
Rrn3 |
G |
A |
16: 13,626,926 (GRCm39) |
V507M |
probably damaging |
Het |
Safb2 |
T |
A |
17: 56,872,242 (GRCm39) |
R197* |
probably null |
Het |
Slc22a26 |
A |
G |
19: 7,767,464 (GRCm39) |
V314A |
probably benign |
Het |
Slfnl1 |
G |
T |
4: 120,390,553 (GRCm39) |
R68L |
probably damaging |
Het |
Spata1 |
G |
T |
3: 146,181,997 (GRCm39) |
Q10K |
possibly damaging |
Het |
Swi5 |
T |
C |
2: 32,170,739 (GRCm39) |
M95V |
possibly damaging |
Het |
Thpo |
T |
C |
16: 20,547,205 (GRCm39) |
D52G |
probably damaging |
Het |
Tmem101 |
A |
T |
11: 102,045,486 (GRCm39) |
L121Q |
probably damaging |
Het |
Trim40 |
T |
C |
17: 37,194,133 (GRCm39) |
I187V |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,074,206 (GRCm39) |
K351E |
possibly damaging |
Het |
Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,828,077 (GRCm39) |
D2163G |
probably damaging |
Het |
Wnt7a |
C |
T |
6: 91,385,771 (GRCm39) |
V61I |
probably benign |
Het |
Zfp804b |
A |
G |
5: 6,820,931 (GRCm39) |
S675P |
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 |
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 |
|
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 |
2013-06-21 |