Incidental Mutation 'IGL01973:Crat'
| ID |
182603 |
| 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: 0.215)
|
| Stock # |
IGL01973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30295493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 370
(S370Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000028209]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000113612]
[ENSMUST00000123202]
[ENSMUST00000132981]
[ENSMUST00000156702]
[ENSMUST00000154595]
|
| AlphaFold |
P47934 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028207
AA Change: S370Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: S370Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
616 |
1.9e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028209
|
| SMART Domains |
Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
59 |
180 |
1.31e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102854
AA Change: S349Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: S349Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102855
AA Change: S370Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: S370Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
35 |
615 |
2.4e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113612
|
| SMART Domains |
Protein: ENSMUSP00000109242
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP2
|
58 |
165 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123202
|
| SMART Domains |
Protein: ENSMUSP00000119478
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP2
|
1 |
90 |
8.1e-13 |
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: ENSMUST00000151018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146603
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137248
|
| SMART Domains |
Protein: ENSMUSP00000116276
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156702
|
| 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 |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
A |
G |
12: 17,061,172 (GRCm39) |
W59R |
probably damaging |
Het |
| Adam17 |
C |
T |
12: 21,399,944 (GRCm39) |
R154K |
probably damaging |
Het |
| Ajm1 |
G |
T |
2: 25,469,584 (GRCm39) |
S109* |
probably null |
Het |
| Atp9b |
A |
T |
18: 80,801,518 (GRCm39) |
F791I |
probably benign |
Het |
| Atr |
T |
G |
9: 95,753,727 (GRCm39) |
S776R |
probably damaging |
Het |
| AW554918 |
A |
T |
18: 25,553,056 (GRCm39) |
T487S |
probably damaging |
Het |
| Bckdhb |
T |
A |
9: 83,873,789 (GRCm39) |
F217Y |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,266,234 (GRCm39) |
A1574T |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,339,647 (GRCm39) |
|
probably null |
Het |
| Clca4c-ps |
A |
T |
3: 144,585,593 (GRCm39) |
|
noncoding transcript |
Het |
| Clec4a1 |
T |
C |
6: 122,907,680 (GRCm39) |
S123P |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,940,093 (GRCm39) |
Y1279C |
probably damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,626 (GRCm39) |
M1K |
probably null |
Het |
| Cts7 |
A |
T |
13: 61,503,414 (GRCm39) |
D183E |
probably benign |
Het |
| Cyp1a2 |
C |
A |
9: 57,589,678 (GRCm39) |
W45C |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,829,539 (GRCm39) |
I492L |
probably benign |
Het |
| Fbxl4 |
T |
G |
4: 22,422,766 (GRCm39) |
L456R |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,620,699 (GRCm39) |
H148Q |
probably benign |
Het |
| Galnt3 |
T |
C |
2: 65,914,606 (GRCm39) |
M604V |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,518,731 (GRCm39) |
V279A |
probably damaging |
Het |
| Heatr1 |
C |
A |
13: 12,444,680 (GRCm39) |
H1543Q |
probably benign |
Het |
| Ighg2b |
C |
T |
12: 113,271,305 (GRCm39) |
V83I |
unknown |
Het |
| Jcad |
A |
G |
18: 4,675,514 (GRCm39) |
Q1092R |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,927,764 (GRCm39) |
E6G |
probably damaging |
Het |
| Klhl22 |
A |
G |
16: 17,610,575 (GRCm39) |
S609G |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,904,021 (GRCm39) |
Y346C |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,752,948 (GRCm39) |
D233G |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,306,951 (GRCm39) |
S355P |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,240,286 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,575,383 (GRCm39) |
T1380A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,644,216 (GRCm39) |
M661K |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,732,651 (GRCm39) |
|
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,689 (GRCm39) |
I98T |
probably benign |
Het |
| Ntsr2 |
T |
A |
12: 16,706,775 (GRCm39) |
W268R |
probably benign |
Het |
| Nup188 |
A |
C |
2: 30,229,862 (GRCm39) |
Q1360P |
possibly damaging |
Het |
| Or2c1 |
A |
T |
16: 3,657,641 (GRCm39) |
Q268L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,099 (GRCm39) |
F161S |
probably damaging |
Het |
| Pabpc1 |
A |
T |
15: 36,599,519 (GRCm39) |
V392E |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,565 (GRCm39) |
R632S |
probably damaging |
Het |
| Phf11 |
A |
G |
14: 59,488,578 (GRCm39) |
V73A |
probably benign |
Het |
| Pnpla6 |
T |
A |
8: 3,567,619 (GRCm39) |
M87K |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,413,162 (GRCm39) |
G670R |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,653,530 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,999,116 (GRCm39) |
|
probably null |
Het |
| Rnf215 |
A |
T |
11: 4,086,615 (GRCm39) |
H164L |
probably damaging |
Het |
| Slc24a3 |
T |
C |
2: 145,086,947 (GRCm39) |
V19A |
probably benign |
Het |
| Tbc1d16 |
A |
T |
11: 119,047,533 (GRCm39) |
V396E |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,134,806 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,706 (GRCm39) |
Y625N |
possibly damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,603 (GRCm39) |
M400L |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,372,101 (GRCm39) |
Y850C |
possibly damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,022,856 (GRCm39) |
D5G |
probably benign |
Het |
| Vmn2r10 |
C |
T |
5: 109,143,543 (GRCm39) |
M802I |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,673,825 (GRCm39) |
M1625K |
probably damaging |
Het |
| Zfp677 |
T |
A |
17: 21,617,169 (GRCm39) |
N75K |
probably damaging |
Het |
| Zzz3 |
T |
C |
3: 152,134,007 (GRCm39) |
V355A |
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 |
|
IGL01357:Crat
|
APN |
2 |
30,297,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Crat
|
APN |
2 |
30,299,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation