Incidental Mutation 'R0676:Crot'
| ID |
98971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crot
|
| Ensembl Gene |
ENSMUSG00000003623 |
| Gene Name |
carnitine O-octanoyltransferase |
| Synonyms |
1200003H03Rik |
| MMRRC Submission |
038861-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R0676 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to C
at 9043622 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: ENSMUST00000146928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193637
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (52/52) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,112,516 (GRCm39) |
|
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,879 (GRCm39) |
|
probably null |
Het |
| B3galnt2 |
T |
C |
13: 14,170,378 (GRCm39) |
S243P |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
| Ctnna3 |
A |
C |
10: 64,245,040 (GRCm39) |
H451P |
probably benign |
Het |
| Cts6 |
C |
T |
13: 61,345,298 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,586,063 (GRCm39) |
T540A |
probably damaging |
Het |
| Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,374,169 (GRCm39) |
Y466N |
probably damaging |
Het |
| Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
| H4c9 |
T |
C |
13: 22,225,276 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
| Klb |
A |
T |
5: 65,536,398 (GRCm39) |
D576V |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,944,729 (GRCm39) |
R627H |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,269,996 (GRCm39) |
K740E |
probably damaging |
Het |
| Mapk9 |
T |
C |
11: 49,773,983 (GRCm39) |
*382Q |
probably null |
Het |
| Mn1 |
A |
G |
5: 111,568,900 (GRCm39) |
S957G |
possibly damaging |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,412 (GRCm39) |
M28L |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,555,749 (GRCm39) |
I913V |
probably benign |
Het |
| Nolc1 |
T |
A |
19: 46,068,528 (GRCm39) |
|
probably benign |
Het |
| Pde4dip |
A |
C |
3: 97,624,413 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
C |
T |
5: 53,803,390 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,555,047 (GRCm39) |
I387T |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
| Scarb1 |
C |
A |
5: 125,374,278 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,876,458 (GRCm39) |
|
probably benign |
Het |
| Slc22a23 |
G |
A |
13: 34,379,462 (GRCm39) |
T435I |
probably damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,773,509 (GRCm39) |
|
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,750,733 (GRCm39) |
I114V |
probably benign |
Het |
| Tbc1d8b |
A |
G |
X: 138,613,025 (GRCm39) |
S284G |
possibly damaging |
Het |
| Tmem131l |
C |
T |
3: 83,842,122 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
C |
T |
17: 23,565,238 (GRCm39) |
S375F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-10 |
Incidental Mutation