Incidental Mutation 'R8793:Acot7'
ID |
671042 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acot7
|
Ensembl Gene |
ENSMUSG00000028937 |
Gene Name |
acyl-CoA thioesterase 7 |
Synonyms |
2410041A17Rik, Bach, AU014716 |
MMRRC Submission |
068610-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R8793 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
152262591-152356312 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 152284380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 17
(V17I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030779]
[ENSMUST00000075363]
[ENSMUST00000105652]
[ENSMUST00000167926]
|
AlphaFold |
Q91V12 |
Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000105652
AA Change: V17I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101277 Gene: ENSMUSG00000028937 AA Change: V17I
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 benign
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 |
|
Meta Mutation Damage Score |
0.0819 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (38/38) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
C |
3: 59,945,804 (GRCm39) |
D158A |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,375,076 (GRCm39) |
T184A |
probably benign |
Het |
Ankrd31 |
T |
A |
13: 96,968,221 (GRCm39) |
D619E |
probably damaging |
Het |
Arap3 |
A |
G |
18: 38,107,492 (GRCm39) |
F1342L |
probably benign |
Het |
Arfgef1 |
G |
C |
1: 10,212,832 (GRCm39) |
N1696K |
possibly damaging |
Het |
Asap2 |
A |
G |
12: 21,218,212 (GRCm39) |
D45G |
probably damaging |
Het |
Atp8b4 |
T |
A |
2: 126,231,254 (GRCm39) |
M456L |
probably benign |
Het |
Bag5 |
A |
T |
12: 111,677,355 (GRCm39) |
I156N |
possibly damaging |
Het |
Banp |
T |
A |
8: 122,750,743 (GRCm39) |
V478E |
probably benign |
Het |
BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
Bms1 |
T |
A |
6: 118,360,784 (GRCm39) |
K1228M |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,958,429 (GRCm39) |
K649E |
probably benign |
Het |
Cpox |
C |
A |
16: 58,493,708 (GRCm39) |
P226Q |
probably damaging |
Het |
Cux1 |
A |
G |
5: 136,594,539 (GRCm39) |
S5P |
unknown |
Het |
Dock2 |
G |
T |
11: 34,451,215 (GRCm39) |
Q837K |
probably benign |
Het |
Fam171a1 |
T |
C |
2: 3,187,535 (GRCm39) |
I134T |
probably damaging |
Het |
Gm2832 |
A |
G |
14: 41,003,726 (GRCm39) |
T186A |
|
Het |
Gm8246 |
T |
C |
14: 16,984,554 (GRCm39) |
E93G |
probably damaging |
Het |
Grid2ip |
C |
T |
5: 143,363,396 (GRCm39) |
T463M |
probably damaging |
Het |
Mael |
G |
A |
1: 166,029,257 (GRCm39) |
R389C |
probably benign |
Het |
Myo9a |
C |
A |
9: 59,791,850 (GRCm39) |
Q1818K |
probably benign |
Het |
Nwd1 |
A |
G |
8: 73,419,704 (GRCm39) |
D963G |
probably benign |
Het |
Or13c3 |
A |
G |
4: 52,856,490 (GRCm39) |
F8L |
probably benign |
Het |
Or2g1 |
T |
C |
17: 38,107,255 (GRCm39) |
S307P |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,678,731 (GRCm39) |
V895E |
probably damaging |
Het |
Pcna |
T |
C |
2: 132,093,193 (GRCm39) |
T185A |
probably benign |
Het |
Pip4k2c |
A |
G |
10: 127,042,530 (GRCm39) |
F108L |
probably damaging |
Het |
Pole |
T |
A |
5: 110,445,614 (GRCm39) |
S497T |
probably damaging |
Het |
Potefam3b |
G |
A |
8: 21,159,053 (GRCm39) |
V136I |
probably benign |
Het |
Ppp1r12c |
A |
G |
7: 4,485,887 (GRCm39) |
V653A |
probably benign |
Het |
Pramel27 |
A |
G |
4: 143,577,627 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,764,284 (GRCm39) |
V3072E |
probably damaging |
Het |
Sh3bgr |
G |
A |
16: 96,025,792 (GRCm39) |
|
probably null |
Het |
Slc27a5 |
A |
C |
7: 12,723,296 (GRCm39) |
L550R |
probably benign |
Het |
Strip2 |
C |
T |
6: 29,956,815 (GRCm39) |
P815S |
probably benign |
Het |
Tars3 |
G |
T |
7: 65,294,673 (GRCm39) |
|
probably benign |
Het |
Tle5 |
T |
C |
10: 81,397,152 (GRCm39) |
|
probably null |
Het |
Tmem237 |
G |
T |
1: 59,146,613 (GRCm39) |
L337M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,555,506 (GRCm39) |
M30500V |
probably benign |
Het |
Ube2u |
T |
C |
4: 100,336,416 (GRCm39) |
F13S |
probably damaging |
Het |
Ugcg |
A |
C |
4: 59,207,794 (GRCm39) |
K44N |
probably benign |
Het |
Vmn2r39 |
A |
T |
7: 9,028,149 (GRCm39) |
H407Q |
probably damaging |
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 |
|
R6938:Acot7
|
UTSW |
4 |
152,302,351 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- AACAATGCCTACCTGGAGGG -3'
(R):5'- CAGACACTATGCCTACACAGGG -3'
Sequencing Primer
(F):5'- CTACCTGGAGGGAGTGGG -3'
(R):5'- AGCCACACTGGTTCCAGTC -3'
|
Posted On |
2021-04-30 |