Incidental Mutation 'IGL01013:Crot'
| ID |
53568 |
| 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 # |
IGL01013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9043575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 16
(Y16H)
|
| 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: Y16H
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000003720
Gene: ENSMUSG00000003623
AA Change: Y16H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
20 |
604 |
2.3e-167 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193637
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,034,053 (GRCm39) |
E499D |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,038,185 (GRCm39) |
L2059* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,690,148 (GRCm39) |
I1228F |
possibly damaging |
Het |
| Appl1 |
A |
T |
14: 26,671,433 (GRCm39) |
Y340N |
possibly damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,165,007 (GRCm39) |
R1103L |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,822,070 (GRCm39) |
V308A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,457,335 (GRCm39) |
P1534L |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 26,008,028 (GRCm39) |
E313G |
possibly damaging |
Het |
| Cep57l1 |
G |
A |
10: 41,616,865 (GRCm39) |
R141* |
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,483,497 (GRCm39) |
Q883* |
probably null |
Het |
| Cyld |
T |
G |
8: 89,468,990 (GRCm39) |
L587R |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,188,738 (GRCm39) |
|
probably null |
Het |
| Fam89b |
G |
T |
19: 5,779,397 (GRCm39) |
D53E |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,143,782 (GRCm39) |
M226V |
probably benign |
Het |
| Gm10722 |
A |
T |
9: 3,002,230 (GRCm39) |
Y184F |
probably damaging |
Het |
| Hp |
C |
A |
8: 110,305,653 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,245,600 (GRCm39) |
R1189L |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,310,987 (GRCm39) |
N620D |
possibly damaging |
Het |
| Jakmip3 |
A |
C |
7: 138,619,302 (GRCm39) |
E228A |
possibly damaging |
Het |
| Kpna3 |
A |
T |
14: 61,607,966 (GRCm39) |
I413K |
probably damaging |
Het |
| Letm1 |
A |
T |
5: 33,919,934 (GRCm39) |
C202S |
possibly damaging |
Het |
| Lmod2 |
C |
A |
6: 24,604,134 (GRCm39) |
Q370K |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,874,300 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
T |
A |
13: 113,134,119 (GRCm39) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,235,281 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,333,236 (GRCm39) |
W1306R |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,980,716 (GRCm39) |
Q473K |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,234,333 (GRCm39) |
C719* |
probably null |
Het |
| Nsun7 |
T |
C |
5: 66,440,944 (GRCm39) |
I355T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,456,314 (GRCm39) |
L560P |
probably damaging |
Het |
| Parl |
C |
A |
16: 20,101,540 (GRCm39) |
A285S |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,843,848 (GRCm39) |
M4795L |
unknown |
Het |
| Polr2f |
A |
G |
15: 79,030,329 (GRCm39) |
Y56C |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,454,413 (GRCm39) |
H152L |
probably damaging |
Het |
| Rpl10l |
T |
C |
12: 66,331,001 (GRCm39) |
D44G |
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,780,212 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,074,392 (GRCm39) |
E1411K |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,515,891 (GRCm39) |
R3Q |
probably damaging |
Het |
| Tbc1d32 |
G |
T |
10: 56,078,055 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
T |
C |
19: 55,908,059 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
G |
T |
11: 117,612,855 (GRCm39) |
V498L |
probably benign |
Het |
| Tymp |
G |
A |
15: 89,260,513 (GRCm39) |
H102Y |
probably damaging |
Het |
| Wdr76 |
T |
C |
2: 121,365,978 (GRCm39) |
S492P |
probably benign |
Het |
| Zc3h12d |
T |
C |
10: 7,715,720 (GRCm39) |
I41T |
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 |
|
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 |
|
|
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 |
2013-06-28 |
Incidental Mutation