Incidental Mutation 'R6938:Acot7'
ID |
540374 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acot7
|
Ensembl Gene |
ENSMUSG00000028937 |
Gene Name |
acyl-CoA thioesterase 7 |
Synonyms |
2410041A17Rik, Bach, AU014716 |
MMRRC Submission |
045052-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R6938 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
152262591-152356312 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 152302351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030779]
[ENSMUST00000075363]
[ENSMUST00000105652]
[ENSMUST00000167926]
|
AlphaFold |
Q91V12 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030779
|
SMART Domains |
Protein: ENSMUSP00000030779 Gene: ENSMUSG00000028937
Domain | Start | End | E-Value | Type |
Pfam:4HBT
|
69 |
152 |
1e-16 |
PFAM |
Pfam:4HBT
|
243 |
318 |
4.1e-19 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000075363
|
SMART Domains |
Protein: ENSMUSP00000074827 Gene: ENSMUSG00000028937
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
low complexity region
|
30 |
36 |
N/A |
INTRINSIC |
Pfam:4HBT
|
67 |
150 |
1.2e-16 |
PFAM |
Pfam:4HBT
|
241 |
316 |
5e-19 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105652
|
SMART Domains |
Protein: ENSMUSP00000101277 Gene: ENSMUSG00000028937
Domain | Start | End | E-Value | Type |
Pfam:4HBT
|
38 |
121 |
1.1e-16 |
PFAM |
Pfam:4HBT
|
212 |
287 |
4.4e-19 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167926
|
SMART Domains |
Protein: ENSMUSP00000129121 Gene: ENSMUSG00000028937
Domain | Start | End | E-Value | Type |
Pfam:4HBT
|
72 |
155 |
2.3e-17 |
PFAM |
Pfam:4HBT
|
246 |
320 |
1.2e-19 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
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 acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a floxed allele activated in neurons exhibit abnormal glucose and lipid homeostasis, altered metabolism, increaased adiposity, decreased lean mass, progressive neurodegeneration, and neurological defects in aged mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
T |
C |
3: 97,082,949 (GRCm39) |
M320T |
probably benign |
Het |
Adam22 |
A |
T |
5: 8,196,499 (GRCm39) |
Y259N |
probably benign |
Het |
Akap9 |
C |
A |
5: 4,096,628 (GRCm39) |
A2501D |
possibly damaging |
Het |
Angpt2 |
G |
T |
8: 18,748,105 (GRCm39) |
S385* |
probably null |
Het |
Asxl2 |
G |
C |
12: 3,526,149 (GRCm39) |
R255T |
probably damaging |
Het |
Btg3 |
T |
C |
16: 78,157,216 (GRCm39) |
I244V |
probably benign |
Het |
Casr |
T |
C |
16: 36,316,283 (GRCm39) |
T596A |
probably damaging |
Het |
Ccl1 |
A |
T |
11: 82,067,684 (GRCm39) |
V82D |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,948,333 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,873,379 (GRCm39) |
D1243G |
probably benign |
Het |
Dnaaf9 |
A |
C |
2: 130,617,673 (GRCm39) |
H297Q |
probably benign |
Het |
Drc3 |
A |
T |
11: 60,284,949 (GRCm39) |
|
probably null |
Het |
Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Gbp4 |
T |
C |
5: 105,282,943 (GRCm39) |
D109G |
probably damaging |
Het |
Gstz1 |
A |
G |
12: 87,193,943 (GRCm39) |
|
probably null |
Het |
Kctd10 |
C |
A |
5: 114,508,191 (GRCm39) |
E106* |
probably null |
Het |
Kctd20 |
G |
A |
17: 29,180,555 (GRCm39) |
G110S |
probably benign |
Het |
Klk1b26 |
A |
T |
7: 43,665,718 (GRCm39) |
T177S |
probably benign |
Het |
Kyat3 |
T |
A |
3: 142,431,183 (GRCm39) |
V118E |
probably damaging |
Het |
Maml3 |
T |
C |
3: 52,011,159 (GRCm39) |
K136E |
probably damaging |
Het |
Mex3d |
T |
C |
10: 80,218,074 (GRCm39) |
N381S |
possibly damaging |
Het |
Mmrn2 |
A |
T |
14: 34,120,671 (GRCm39) |
T514S |
probably benign |
Het |
Nlrp1b |
G |
A |
11: 71,109,042 (GRCm39) |
A153V |
probably damaging |
Het |
Or13e8 |
C |
T |
4: 43,696,286 (GRCm39) |
V296M |
probably damaging |
Het |
Pcolce |
T |
C |
5: 137,603,878 (GRCm39) |
T365A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,593,985 (GRCm39) |
I377V |
probably benign |
Het |
Plk2 |
T |
A |
13: 110,533,214 (GRCm39) |
Y192* |
probably null |
Het |
Rev3l |
T |
A |
10: 39,738,706 (GRCm39) |
V2820D |
probably damaging |
Het |
Secisbp2l |
G |
T |
2: 125,592,272 (GRCm39) |
P650T |
probably damaging |
Het |
Slc9a5 |
T |
C |
8: 106,080,064 (GRCm39) |
L69P |
probably damaging |
Het |
Sp9 |
T |
C |
2: 73,103,616 (GRCm39) |
C57R |
probably damaging |
Het |
Tbl3 |
A |
T |
17: 24,924,187 (GRCm39) |
V190D |
possibly damaging |
Het |
Timm8b |
A |
G |
9: 50,516,294 (GRCm39) |
D49G |
possibly damaging |
Het |
Tmem231 |
T |
C |
8: 112,660,144 (GRCm39) |
S53G |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,205,753 (GRCm39) |
V797D |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,803,886 (GRCm39) |
D1665E |
probably damaging |
Het |
Txk |
C |
A |
5: 72,856,492 (GRCm39) |
R433L |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,992 (GRCm39) |
S182P |
possibly damaging |
Het |
Vps13b |
T |
G |
15: 35,423,344 (GRCm39) |
I221M |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,903,464 (GRCm39) |
N1082D |
probably benign |
Het |
|
Other mutations in Acot7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01308:Acot7
|
APN |
4 |
152,345,353 (GRCm39) |
missense |
probably benign |
0.39 |
IGL01758:Acot7
|
APN |
4 |
152,302,250 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01991:Acot7
|
APN |
4 |
152,307,536 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1329:Acot7
|
UTSW |
4 |
152,314,241 (GRCm39) |
nonsense |
probably null |
|
R1605:Acot7
|
UTSW |
4 |
152,291,285 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1625:Acot7
|
UTSW |
4 |
152,270,748 (GRCm39) |
missense |
probably benign |
0.01 |
R1739:Acot7
|
UTSW |
4 |
152,345,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R4169:Acot7
|
UTSW |
4 |
152,302,250 (GRCm39) |
missense |
probably damaging |
0.96 |
R4473:Acot7
|
UTSW |
4 |
152,291,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R4857:Acot7
|
UTSW |
4 |
152,322,211 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4884:Acot7
|
UTSW |
4 |
152,270,664 (GRCm39) |
intron |
probably benign |
|
R5000:Acot7
|
UTSW |
4 |
152,270,820 (GRCm39) |
missense |
probably benign |
0.00 |
R6123:Acot7
|
UTSW |
4 |
152,284,402 (GRCm39) |
missense |
probably benign |
|
R6633:Acot7
|
UTSW |
4 |
152,262,716 (GRCm39) |
missense |
probably benign |
|
R7025:Acot7
|
UTSW |
4 |
152,262,646 (GRCm39) |
missense |
unknown |
|
R7813:Acot7
|
UTSW |
4 |
152,307,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R8035:Acot7
|
UTSW |
4 |
152,337,611 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8793:Acot7
|
UTSW |
4 |
152,284,380 (GRCm39) |
missense |
probably benign |
|
R8803:Acot7
|
UTSW |
4 |
152,302,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R9288:Acot7
|
UTSW |
4 |
152,291,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R9644:Acot7
|
UTSW |
4 |
152,270,752 (GRCm39) |
nonsense |
probably null |
|
R9734:Acot7
|
UTSW |
4 |
152,345,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATAAGGACTTGCTGGGCTG -3'
(R):5'- TGTTGCCACAGTCAGCTTCG -3'
Sequencing Primer
(F):5'- CTGGACTGGGCTGATGGC -3'
(R):5'- AGGGAGCCTGTAAACTGCATTCC -3'
|
Posted On |
2018-11-06 |