Incidental Mutation 'IGL01357:Crat'
| ID |
75563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
IGL01357
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30297736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 263
(Y263N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000132981]
[ENSMUST00000154595]
[ENSMUST00000156702]
|
| AlphaFold |
P47934 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028207
AA Change: Y263N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: Y263N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
616 |
1.9e-235 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102854
AA Change: Y242N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: Y242N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102855
AA Change: Y263N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: Y263N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
35 |
615 |
2.4e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132981
|
| SMART Domains |
Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
76 |
2.3e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146603
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154595
|
| SMART Domains |
Protein: ENSMUSP00000114925
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
1 |
132 |
1.4e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155790
|
| SMART Domains |
Protein: ENSMUSP00000122814
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
1 |
133 |
2.4e-51 |
PFAM |
|
Pfam:Carn_acyltransf
|
128 |
190 |
8.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156702
|
| 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 carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice with muscle specific loss of function display increased circulating glucose level, impaired glucose tolerance, insulin resistance, decreased circulating triglyceride and free fatty acid levels, increased susceptibility to diet-induced obesity and abnormal mitochondrial physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
C |
A |
8: 125,366,072 (GRCm39) |
V224F |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,897,232 (GRCm39) |
M637K |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,922,398 (GRCm39) |
V1395A |
probably benign |
Het |
| Adam20 |
A |
C |
8: 41,249,597 (GRCm39) |
D569A |
probably benign |
Het |
| Axl |
A |
G |
7: 25,473,594 (GRCm39) |
L344P |
probably benign |
Het |
| B3gat1 |
T |
C |
9: 26,668,283 (GRCm39) |
L291P |
probably damaging |
Het |
| Cdc25c |
A |
T |
18: 34,867,910 (GRCm39) |
|
probably null |
Het |
| Crb2 |
A |
G |
2: 37,685,523 (GRCm39) |
|
probably benign |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,701,540 (GRCm39) |
V205D |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,240,077 (GRCm39) |
Y1011* |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,146 (GRCm39) |
S414N |
probably damaging |
Het |
| Fev |
T |
C |
1: 74,921,683 (GRCm39) |
E89G |
possibly damaging |
Het |
| Fgg |
A |
G |
3: 82,921,535 (GRCm39) |
E406G |
possibly damaging |
Het |
| Glra1 |
A |
T |
11: 55,405,715 (GRCm39) |
M425K |
possibly damaging |
Het |
| Gm8214 |
C |
T |
1: 183,414,129 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm3b |
A |
G |
18: 34,926,067 (GRCm39) |
E69G |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,895,877 (GRCm39) |
V89E |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,206,083 (GRCm39) |
N361I |
unknown |
Het |
| Macrod2 |
A |
G |
2: 142,226,250 (GRCm39) |
N457S |
probably damaging |
Het |
| Mal |
C |
A |
2: 127,482,234 (GRCm39) |
M56I |
probably damaging |
Het |
| Mfsd5 |
C |
T |
15: 102,189,882 (GRCm39) |
T418M |
probably benign |
Het |
| Mmaa |
C |
A |
8: 79,994,600 (GRCm39) |
R402L |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,393,115 (GRCm39) |
|
probably benign |
Het |
| Nme1 |
A |
G |
11: 93,850,317 (GRCm39) |
S122P |
possibly damaging |
Het |
| Nxt1 |
A |
G |
2: 148,517,316 (GRCm39) |
E19G |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,107,874 (GRCm39) |
T994S |
probably benign |
Het |
| Orc2 |
T |
G |
1: 58,536,551 (GRCm39) |
E56D |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,536,552 (GRCm39) |
E56G |
probably benign |
Het |
| Pid1 |
G |
A |
1: 84,016,026 (GRCm39) |
T113I |
probably damaging |
Het |
| Plcg2 |
G |
A |
8: 118,340,900 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,597,848 (GRCm39) |
V12A |
probably damaging |
Het |
| Serpinb9c |
C |
T |
13: 33,335,862 (GRCm39) |
V197I |
probably benign |
Het |
| Sfxn2 |
A |
T |
19: 46,574,212 (GRCm39) |
N134I |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,244,424 (GRCm39) |
R204G |
unknown |
Het |
| Strip2 |
A |
G |
6: 29,939,166 (GRCm39) |
|
probably benign |
Het |
| Tas2r135 |
A |
T |
6: 42,383,078 (GRCm39) |
I206L |
probably benign |
Het |
| Tmem243 |
A |
G |
5: 9,151,348 (GRCm39) |
T11A |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,379,666 (GRCm39) |
V401A |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,392,808 (GRCm39) |
I241N |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,781,864 (GRCm39) |
S1015A |
possibly damaging |
Het |
| Wee1 |
T |
C |
7: 109,741,242 (GRCm39) |
S622P |
probably benign |
Het |
|
| Other mutations in Crat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:Crat
|
APN |
2 |
30,295,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01538:Crat
|
APN |
2 |
30,299,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:Crat
|
APN |
2 |
30,295,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02228:Crat
|
APN |
2 |
30,303,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Crat
|
APN |
2 |
30,297,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02569:Crat
|
APN |
2 |
30,294,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02637:Crat
|
APN |
2 |
30,296,401 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02983:Crat
|
APN |
2 |
30,294,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03395:Crat
|
APN |
2 |
30,294,978 (GRCm39) |
missense |
probably benign |
0.11 |
|
Charlie
|
UTSW |
2 |
30,293,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
demo
|
UTSW |
2 |
30,292,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
veruca
|
UTSW |
2 |
30,293,640 (GRCm39) |
unclassified |
probably benign |
|
|
R0136:Crat
|
UTSW |
2 |
30,297,042 (GRCm39) |
missense |
probably benign |
|
|
R0389:Crat
|
UTSW |
2 |
30,293,640 (GRCm39) |
unclassified |
probably benign |
|
|
R0443:Crat
|
UTSW |
2 |
30,293,640 (GRCm39) |
unclassified |
probably benign |
|
|
R0619:Crat
|
UTSW |
2 |
30,299,996 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1938:Crat
|
UTSW |
2 |
30,303,073 (GRCm39) |
missense |
probably benign |
|
|
R1990:Crat
|
UTSW |
2 |
30,295,060 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2113:Crat
|
UTSW |
2 |
30,292,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2655:Crat
|
UTSW |
2 |
30,292,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3150:Crat
|
UTSW |
2 |
30,303,871 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4231:Crat
|
UTSW |
2 |
30,303,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4553:Crat
|
UTSW |
2 |
30,298,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4592:Crat
|
UTSW |
2 |
30,305,378 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4718:Crat
|
UTSW |
2 |
30,298,176 (GRCm39) |
nonsense |
probably null |
|
|
R4808:Crat
|
UTSW |
2 |
30,300,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4982:Crat
|
UTSW |
2 |
30,297,148 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5473:Crat
|
UTSW |
2 |
30,297,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6049:Crat
|
UTSW |
2 |
30,293,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:Crat
|
UTSW |
2 |
30,297,042 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6774:Crat
|
UTSW |
2 |
30,303,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Crat
|
UTSW |
2 |
30,305,208 (GRCm39) |
splice site |
probably benign |
|
|
R7376:Crat
|
UTSW |
2 |
30,296,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7408:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7410:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7467:Crat
|
UTSW |
2 |
30,299,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7514:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7582:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7584:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7620:Crat
|
UTSW |
2 |
30,298,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7685:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7686:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8332:Crat
|
UTSW |
2 |
30,295,084 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8554:Crat
|
UTSW |
2 |
30,300,035 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8766:Crat
|
UTSW |
2 |
30,297,075 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8994:Crat
|
UTSW |
2 |
30,297,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Crat
|
UTSW |
2 |
30,295,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Crat
|
UTSW |
2 |
30,297,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Crat
|
UTSW |
2 |
30,298,085 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9293:Crat
|
UTSW |
2 |
30,298,214 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation