Incidental Mutation 'IGL01758:Acot7'
ID |
153469 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01758
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
152262591-152356312 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152302250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 121
(C121R)
|
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: C118R
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000030779 Gene: ENSMUSG00000028937 AA Change: C118R
Domain | Start | End | E-Value | Type |
Pfam:4HBT
|
69 |
152 |
1e-16 |
PFAM |
Pfam:4HBT
|
243 |
318 |
4.1e-19 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075363
AA Change: C116R
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000074827 Gene: ENSMUSG00000028937 AA Change: C116R
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 |
possibly damaging
Transcript: ENSMUST00000105652
AA Change: C87R
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101277 Gene: ENSMUSG00000028937 AA Change: C87R
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: ENSMUST00000144733
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167926
AA Change: C121R
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129121 Gene: ENSMUSG00000028937 AA Change: C121R
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 |
0.0976 |
Coding Region Coverage |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,901,645 (GRCm39) |
D860G |
possibly damaging |
Het |
Adam19 |
A |
T |
11: 46,003,751 (GRCm39) |
H193L |
probably benign |
Het |
AI661453 |
T |
A |
17: 47,777,548 (GRCm39) |
|
probably benign |
Het |
Bod1l |
T |
C |
5: 41,983,953 (GRCm39) |
|
probably benign |
Het |
Brd4 |
T |
C |
17: 32,431,803 (GRCm39) |
|
probably benign |
Het |
Capn12 |
G |
A |
7: 28,586,048 (GRCm39) |
|
probably null |
Het |
Cdh18 |
A |
G |
15: 23,474,269 (GRCm39) |
Q713R |
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,844,406 (GRCm39) |
L103Q |
possibly damaging |
Het |
Dpy19l4 |
T |
A |
4: 11,265,846 (GRCm39) |
T475S |
probably damaging |
Het |
Dync2i1 |
G |
A |
12: 116,182,418 (GRCm39) |
P728L |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,187,035 (GRCm39) |
D1270E |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,052,659 (GRCm39) |
K275E |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,438,058 (GRCm39) |
D426G |
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
Or13f5 |
G |
T |
4: 52,825,468 (GRCm39) |
E24* |
probably null |
Het |
Or8b50 |
T |
A |
9: 38,518,589 (GRCm39) |
I276K |
probably damaging |
Het |
Ptgs2 |
A |
T |
1: 149,977,740 (GRCm39) |
|
probably null |
Het |
Rxfp1 |
T |
A |
3: 79,559,523 (GRCm39) |
I433F |
possibly damaging |
Het |
Sbf1 |
C |
T |
15: 89,187,418 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
T |
G |
1: 106,928,484 (GRCm39) |
F368C |
probably damaging |
Het |
Slc9c1 |
T |
A |
16: 45,361,824 (GRCm39) |
S80R |
probably damaging |
Het |
Spats2l |
G |
T |
1: 57,918,715 (GRCm39) |
V30L |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,176,080 (GRCm39) |
E195G |
probably damaging |
Het |
Tbx5 |
T |
A |
5: 119,983,023 (GRCm39) |
|
probably benign |
Het |
Tmem165 |
A |
G |
5: 76,352,010 (GRCm39) |
T164A |
probably damaging |
Het |
Trim66 |
A |
T |
7: 109,085,252 (GRCm39) |
|
probably null |
Het |
Trip10 |
T |
A |
17: 57,568,409 (GRCm39) |
V405E |
possibly damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,372,275 (GRCm39) |
C28* |
probably null |
Het |
Zbtb8a |
C |
T |
4: 129,251,640 (GRCm39) |
C277Y |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,956,508 (GRCm39) |
F1705S |
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 |
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 |
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 |
|
Posted On |
2014-02-04 |