Incidental Mutation 'R1329:Acot7'
| ID |
156110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot7
|
| Ensembl Gene |
ENSMUSG00000028937 |
| Gene Name |
acyl-CoA thioesterase 7 |
| Synonyms |
2410041A17Rik, Bach, AU014716 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R1329 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152262591-152356312 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 152314241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 188
(Q188*)
|
| 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
AA Change: Q185*
|
| SMART Domains |
Protein: ENSMUSP00000030779
Gene: ENSMUSG00000028937
AA Change: Q185*
| 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
AA Change: Q183*
|
| SMART Domains |
Protein: ENSMUSP00000074827
Gene: ENSMUSG00000028937
AA Change: Q183*
| 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
AA Change: Q154*
|
| SMART Domains |
Protein: ENSMUSP00000101277
Gene: ENSMUSG00000028937
AA Change: Q154*
| 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
AA Change: Q188*
|
| SMART Domains |
Protein: ENSMUSP00000129121
Gene: ENSMUSG00000028937
AA Change: Q188*
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
T |
C |
7: 51,196,533 (GRCm39) |
Y141H |
probably benign |
Het |
| Atg101 |
G |
A |
15: 101,188,171 (GRCm39) |
G92D |
probably null |
Het |
| Brwd1 |
A |
G |
16: 95,804,434 (GRCm39) |
I1912T |
probably benign |
Het |
| Cad |
G |
T |
5: 31,216,926 (GRCm39) |
G263W |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,227 (GRCm39) |
E715G |
probably damaging |
Het |
| Cracd |
A |
G |
5: 76,805,779 (GRCm39) |
|
probably benign |
Het |
| Dbp |
C |
T |
7: 45,357,752 (GRCm39) |
P70S |
probably damaging |
Het |
| Fem1al |
T |
A |
11: 29,773,553 (GRCm39) |
N635Y |
probably benign |
Het |
| Gpr61 |
T |
A |
3: 108,057,830 (GRCm39) |
H277L |
probably benign |
Het |
| Gsdma3 |
G |
T |
11: 98,523,218 (GRCm39) |
V203F |
probably damaging |
Het |
| Ifih1 |
G |
C |
2: 62,447,831 (GRCm39) |
|
probably null |
Het |
| Myo1e |
T |
A |
9: 70,246,020 (GRCm39) |
C404S |
possibly damaging |
Het |
| Myrfl |
A |
G |
10: 116,613,247 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
G |
8: 108,095,659 (GRCm39) |
M1300R |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,325,943 (GRCm39) |
P1129S |
possibly damaging |
Het |
| Nubp2 |
A |
T |
17: 25,102,838 (GRCm39) |
N208K |
possibly damaging |
Het |
| Or8g20 |
A |
G |
9: 39,395,740 (GRCm39) |
S270P |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,384,653 (GRCm39) |
D488G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,569,833 (GRCm39) |
Y202F |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Usp4 |
T |
A |
9: 108,249,765 (GRCm39) |
V431E |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,466,717 (GRCm39) |
I636V |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,606,162 (GRCm39) |
N358S |
possibly damaging |
Het |
| Wdr47 |
T |
A |
3: 108,534,615 (GRCm39) |
N511K |
probably benign |
Het |
| Wdr5 |
T |
A |
2: 27,421,683 (GRCm39) |
F222I |
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 |
|
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 |
|
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'- AGAGGTCTGTCCATCCATCTGTCC -3'
(R):5'- CTGTGCTAAGAAAGAGGTCTGCCTG -3'
Sequencing Primer
(F):5'- GGCACCCCCTGAAAGTTTG -3'
(R):5'- AAAGAGGTCTGCCTGGCTTAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation