Incidental Mutation 'IGL02983:Crat'
| ID |
406647 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL02983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30400471-30415813 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 30404526 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000028209]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000113612]
[ENSMUST00000123202]
[ENSMUST00000132981]
[ENSMUST00000154595]
[ENSMUST00000156702]
|
| AlphaFold |
P47934 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028207
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
| 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 null
Transcript: ENSMUST00000102854
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102855
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000146603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152303
|
| Predicted Effect |
probably null
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 null
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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155196
|
| SMART Domains |
Protein: ENSMUSP00000115602
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
88 |
N/A |
INTRINSIC |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020D05Rik |
A |
G |
19: 5,503,181 |
F191L |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,290,663 |
N842S |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,203,078 |
R374G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,139,124 |
I565V |
probably benign |
Het |
| Camta2 |
C |
T |
11: 70,672,022 |
R959Q |
probably damaging |
Het |
| Cbln2 |
A |
G |
18: 86,713,379 |
E104G |
probably benign |
Het |
| Cdc42ep4 |
T |
C |
11: 113,729,169 |
K132R |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,390,131 |
I452F |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,967,567 |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,127,525 |
K227R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,223,862 |
I588N |
probably damaging |
Het |
| Dip2b |
G |
T |
15: 100,132,022 |
R98L |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 67,764,670 |
P1617L |
probably damaging |
Het |
| Fa2h |
C |
T |
8: 111,346,522 |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,247,872 |
N68I |
probably damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,421,400 |
L17F |
probably benign |
Het |
| Gm17078 |
T |
C |
14: 51,611,190 |
K30R |
probably benign |
Het |
| Gramd4 |
G |
A |
15: 86,127,018 |
V249M |
probably damaging |
Het |
| Kcnd2 |
A |
C |
6: 21,216,555 |
D86A |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,550,199 |
E3486G |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,194,670 |
D50G |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,459,686 |
Y167* |
probably null |
Het |
| Nat14 |
G |
A |
7: 4,924,128 |
A100T |
probably damaging |
Het |
| Nxph2 |
T |
C |
2: 23,400,362 |
V242A |
probably damaging |
Het |
| Olfr338 |
T |
A |
2: 36,377,637 |
I287N |
probably damaging |
Het |
| Olfr443-ps1 |
T |
C |
6: 43,094,648 |
|
noncoding transcript |
Het |
| Olfr54 |
T |
C |
11: 51,027,380 |
V126A |
probably damaging |
Het |
| Olfr818 |
T |
A |
10: 129,945,189 |
N291I |
probably damaging |
Het |
| Pramef20 |
T |
C |
4: 144,373,127 |
E356G |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,655,120 |
L358S |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,957,049 |
T4A |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,703,694 |
S207P |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,641,971 |
I538F |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,365,779 |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,178,880 |
T642A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,771,443 |
M277K |
possibly damaging |
Het |
| Vmn1r86 |
T |
C |
7: 13,102,814 |
D45G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,933,832 |
I565V |
probably benign |
Het |
| Zfp526 |
C |
T |
7: 25,224,415 |
A33V |
probably benign |
Het |
|
| Other mutations in Crat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:Crat
|
APN |
2 |
30405187 |
missense |
probably damaging |
0.99 |
|
IGL01357:Crat
|
APN |
2 |
30407724 |
missense |
probably damaging |
1.00 |
|
IGL01538:Crat
|
APN |
2 |
30409966 |
missense |
probably damaging |
1.00 |
|
IGL01973:Crat
|
APN |
2 |
30405481 |
missense |
probably damaging |
0.98 |
|
IGL02228:Crat
|
APN |
2 |
30413182 |
missense |
probably damaging |
1.00 |
|
IGL02408:Crat
|
APN |
2 |
30407134 |
missense |
probably damaging |
1.00 |
|
IGL02569:Crat
|
APN |
2 |
30404530 |
missense |
probably damaging |
0.99 |
|
IGL02637:Crat
|
APN |
2 |
30406389 |
missense |
probably benign |
0.06 |
|
IGL03395:Crat
|
APN |
2 |
30404966 |
missense |
probably benign |
0.11 |
|
Charlie
|
UTSW |
2 |
30403541 |
missense |
probably damaging |
1.00 |
|
veruca
|
UTSW |
2 |
30403628 |
unclassified |
probably benign |
|
|
R0136:Crat
|
UTSW |
2 |
30407030 |
missense |
probably benign |
|
|
R0389:Crat
|
UTSW |
2 |
30403628 |
unclassified |
probably benign |
|
|
R0443:Crat
|
UTSW |
2 |
30403628 |
unclassified |
probably benign |
|
|
R0619:Crat
|
UTSW |
2 |
30409984 |
missense |
probably benign |
0.14 |
|
R1938:Crat
|
UTSW |
2 |
30413061 |
missense |
probably benign |
|
|
R1990:Crat
|
UTSW |
2 |
30405048 |
missense |
possibly damaging |
0.93 |
|
R2113:Crat
|
UTSW |
2 |
30402642 |
missense |
probably benign |
0.00 |
|
R2655:Crat
|
UTSW |
2 |
30402691 |
missense |
probably damaging |
1.00 |
|
R3150:Crat
|
UTSW |
2 |
30413859 |
critical splice donor site |
probably null |
|
|
R4231:Crat
|
UTSW |
2 |
30413011 |
missense |
possibly damaging |
0.95 |
|
R4553:Crat
|
UTSW |
2 |
30408217 |
missense |
probably benign |
0.00 |
|
R4592:Crat
|
UTSW |
2 |
30415366 |
utr 5 prime |
probably benign |
|
|
R4718:Crat
|
UTSW |
2 |
30408164 |
nonsense |
probably null |
|
|
R4808:Crat
|
UTSW |
2 |
30410021 |
missense |
probably benign |
0.01 |
|
R4982:Crat
|
UTSW |
2 |
30407136 |
critical splice acceptor site |
probably null |
|
|
R5473:Crat
|
UTSW |
2 |
30407714 |
missense |
probably damaging |
1.00 |
|
R6049:Crat
|
UTSW |
2 |
30403541 |
missense |
probably damaging |
1.00 |
|
R6223:Crat
|
UTSW |
2 |
30407030 |
missense |
probably benign |
0.07 |
|
R6774:Crat
|
UTSW |
2 |
30413183 |
missense |
probably damaging |
1.00 |
|
R6885:Crat
|
UTSW |
2 |
30415196 |
splice site |
probably benign |
|
|
R7376:Crat
|
UTSW |
2 |
30406465 |
missense |
probably damaging |
1.00 |
|
R7407:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7408:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7410:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7467:Crat
|
UTSW |
2 |
30409982 |
missense |
probably damaging |
1.00 |
|
R7484:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7514:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7582:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7584:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7585:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7620:Crat
|
UTSW |
2 |
30408078 |
missense |
probably damaging |
0.99 |
|
R7685:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7686:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R8332:Crat
|
UTSW |
2 |
30405072 |
missense |
possibly damaging |
0.71 |
|
R8554:Crat
|
UTSW |
2 |
30410023 |
missense |
probably benign |
0.36 |
|
R8766:Crat
|
UTSW |
2 |
30407063 |
missense |
probably benign |
0.38 |
|
R8994:Crat
|
UTSW |
2 |
30407875 |
missense |
probably damaging |
1.00 |
|
R9151:Crat
|
UTSW |
2 |
30405040 |
missense |
probably damaging |
1.00 |
|
R9176:Crat
|
UTSW |
2 |
30407880 |
missense |
probably damaging |
1.00 |
|
R9182:Crat
|
UTSW |
2 |
30408073 |
missense |
probably damaging |
0.99 |
|
R9293:Crat
|
UTSW |
2 |
30408202 |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
