Incidental Mutation 'R6123:Acot7'
| ID |
485824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot7
|
| Ensembl Gene |
ENSMUSG00000028937 |
| Gene Name |
acyl-CoA thioesterase 7 |
| Synonyms |
2410041A17Rik, Bach, AU014716 |
| MMRRC Submission |
044270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R6123 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152262591-152356312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152284402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 24
(E24G)
|
| 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: E24G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101277
Gene: ENSMUSG00000028937
AA Change: E24G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
38 |
121 |
1.1e-16 |
PFAM |
|
Pfam:4HBT
|
212 |
287 |
4.4e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144733
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184331
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd34b |
A |
G |
13: 92,575,584 (GRCm39) |
E272G |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,487,091 (GRCm39) |
N270I |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,763,179 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,510,595 (GRCm39) |
R504I |
possibly damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,060 (GRCm39) |
R408G |
probably benign |
Het |
| Clba1 |
T |
C |
12: 112,774,530 (GRCm39) |
F153L |
probably damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,406,266 (GRCm39) |
*502R |
probably null |
Het |
| Dido1 |
A |
T |
2: 180,325,760 (GRCm39) |
V476E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,409,185 (GRCm39) |
K398E |
probably benign |
Het |
| E130308A19Rik |
A |
G |
4: 59,737,565 (GRCm39) |
Y392C |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 140,010,309 (GRCm39) |
D9V |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,473,357 (GRCm39) |
Q82R |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Gm14496 |
T |
A |
2: 181,633,020 (GRCm39) |
M1K |
probably null |
Het |
| Gm6665 |
A |
G |
18: 31,952,937 (GRCm39) |
M79T |
probably benign |
Het |
| Gna15 |
A |
G |
10: 81,345,178 (GRCm39) |
L229P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,404,532 (GRCm39) |
T4451A |
probably damaging |
Het |
| Igf2bp1 |
A |
G |
11: 95,866,122 (GRCm39) |
V122A |
probably damaging |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,313 (GRCm39) |
S36T |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,320,861 (GRCm39) |
V186A |
probably benign |
Het |
| Jrk |
A |
G |
15: 74,578,529 (GRCm39) |
I252T |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,134,365 (GRCm39) |
S395G |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,290,718 (GRCm39) |
P103S |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,256,339 (GRCm39) |
K105R |
probably benign |
Het |
| P4ha1 |
A |
T |
10: 59,186,349 (GRCm39) |
K276I |
possibly damaging |
Het |
| Pcyox1 |
A |
G |
6: 86,365,910 (GRCm39) |
S435P |
possibly damaging |
Het |
| Potegl |
T |
C |
2: 23,120,134 (GRCm39) |
Y235H |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,334 (GRCm39) |
M53K |
possibly damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,096,773 (GRCm39) |
N103I |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,302,339 (GRCm39) |
V421A |
probably damaging |
Het |
| Rnpc3 |
A |
T |
3: 113,402,705 (GRCm39) |
|
probably null |
Het |
| Scaf11 |
A |
G |
15: 96,318,335 (GRCm39) |
S410P |
probably benign |
Het |
| Slc16a1 |
A |
G |
3: 104,560,510 (GRCm39) |
T272A |
probably benign |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,957,095 (GRCm39) |
D559G |
probably damaging |
Het |
| Sntb2 |
G |
A |
8: 107,707,857 (GRCm39) |
G207D |
probably damaging |
Het |
| Spata31f1e |
A |
G |
4: 42,793,065 (GRCm39) |
S356P |
possibly damaging |
Het |
| Spdye4a |
T |
C |
5: 143,211,473 (GRCm39) |
I30M |
possibly damaging |
Het |
| Thumpd1 |
A |
T |
7: 119,316,232 (GRCm39) |
V239E |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,663,162 (GRCm39) |
S54G |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,951 (GRCm39) |
I299T |
probably damaging |
Het |
| Tpst2 |
C |
T |
5: 112,456,084 (GRCm39) |
R208C |
probably damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,587,510 (GRCm39) |
Y285C |
probably damaging |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,206,959 (GRCm39) |
S1105P |
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 |
|
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 |
|
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'- AGAACAATGCCTACCTGGAGG -3'
(R):5'- GACACTATGCCTACACAGGG -3'
Sequencing Primer
(F):5'- CTACCTGGAGGGAGTGGG -3'
(R):5'- GCCTACACAGGGCCCAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation