Incidental Mutation 'R4473:Acot7'
| ID |
330451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot7
|
| Ensembl Gene |
ENSMUSG00000028937 |
| Gene Name |
acyl-CoA thioesterase 7 |
| Synonyms |
2410041A17Rik, Bach, AU014716 |
| MMRRC Submission |
041730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R4473 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152262591-152356312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 152291313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 93
(T93K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030779]
[ENSMUST00000075363]
[ENSMUST00000105652]
[ENSMUST00000167926]
|
| AlphaFold |
Q91V12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030779
AA Change: T90K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030779
Gene: ENSMUSG00000028937
AA Change: T90K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
69 |
152 |
1e-16 |
PFAM |
|
Pfam:4HBT
|
243 |
318 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075363
AA Change: T88K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074827
Gene: ENSMUSG00000028937
AA Change: T88K
| 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 damaging
Transcript: ENSMUST00000105652
AA Change: T59K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101277
Gene: ENSMUSG00000028937
AA Change: T59K
| 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 damaging
Transcript: ENSMUST00000167926
AA Change: T93K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129121
Gene: ENSMUSG00000028937
AA Change: T93K
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg1 |
G |
A |
11: 120,239,085 (GRCm39) |
R2C |
probably benign |
Het |
| Alb |
T |
C |
5: 90,611,912 (GRCm39) |
C114R |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,327 (GRCm39) |
S1008T |
probably benign |
Het |
| Corin |
T |
C |
5: 72,496,400 (GRCm39) |
S510G |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
| Eddm3b |
A |
G |
14: 51,354,236 (GRCm39) |
T75A |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,149,246 (GRCm39) |
|
probably null |
Het |
| Erc1 |
G |
T |
6: 119,825,417 (GRCm39) |
|
probably null |
Het |
| Fancf |
A |
G |
7: 51,511,948 (GRCm39) |
C19R |
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,770,833 (GRCm39) |
L63P |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,677,732 (GRCm39) |
V128A |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,292,058 (GRCm39) |
V133A |
probably damaging |
Het |
| Ighv1-49 |
A |
T |
12: 115,018,959 (GRCm39) |
Y79N |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,654,151 (GRCm39) |
E7G |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,287,517 (GRCm39) |
|
probably benign |
Het |
| Or5d35 |
T |
A |
2: 87,855,464 (GRCm39) |
Y133N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,858,614 (GRCm39) |
I505F |
possibly damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,561,978 (GRCm39) |
Q228K |
probably damaging |
Het |
| Pramel38 |
A |
G |
5: 94,366,029 (GRCm39) |
N49S |
probably benign |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Skor2 |
C |
T |
18: 76,947,156 (GRCm39) |
P293S |
unknown |
Het |
| Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
| Tfpi |
A |
T |
2: 84,288,426 (GRCm39) |
L10Q |
probably null |
Het |
| Trim66 |
A |
T |
7: 109,081,202 (GRCm39) |
I239N |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,376,810 (GRCm39) |
K304N |
probably damaging |
Het |
| Vmn1r5 |
G |
A |
6: 56,962,633 (GRCm39) |
V103I |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,770,789 (GRCm39) |
W6R |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,065,995 (GRCm39) |
Y651C |
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 |
|
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'- ATTCATGTCCTTCCTGTGGG -3'
(R):5'- GACCTCCAGAAGACACAGTG -3'
Sequencing Primer
(F):5'- AGCGAGTCCCTGCTGTACTTG -3'
(R):5'- CACAGTGGGTGGGCAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation