Incidental Mutation 'IGL01896:Acot11'
| ID |
179409 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acot11
|
| Ensembl Gene |
ENSMUSG00000034853 |
| Gene Name |
acyl-CoA thioesterase 11 |
| Synonyms |
2010309H15Rik, Thea, 1110020M10Rik, Them1, BFIT1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL01896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106601752-106662195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106628564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 75
(I75F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065253]
[ENSMUST00000102762]
[ENSMUST00000140541]
[ENSMUST00000145061]
[ENSMUST00000148688]
[ENSMUST00000156567]
|
| AlphaFold |
Q8VHQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065253
AA Change: I95F
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
AA Change: I95F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
84 |
157 |
7e-10 |
PFAM |
|
Pfam:4HBT
|
255 |
331 |
2.6e-13 |
PFAM |
|
START
|
405 |
603 |
1.49e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102762
AA Change: I75F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
AA Change: I75F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
64 |
136 |
7.2e-10 |
PFAM |
|
Pfam:4HBT
|
235 |
311 |
6.7e-13 |
PFAM |
|
START
|
385 |
583 |
1.49e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121767
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140541
AA Change: I64F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124567
Gene: ENSMUSG00000034853
AA Change: I64F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3B7K|C
|
32 |
71 |
3e-10 |
PDB |
|
SCOP:d1lo7a_
|
37 |
69 |
2e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145061
AA Change: I60F
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125123
Gene: ENSMUSG00000034853
AA Change: I60F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
49 |
107 |
4.4e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148688
AA Change: I60F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124385
Gene: ENSMUSG00000034853
AA Change: I60F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3B7K|C
|
28 |
93 |
6e-23 |
PDB |
|
SCOP:d1lo7a_
|
33 |
93 |
5e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156567
AA Change: I75F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123942
Gene: ENSMUSG00000034853
AA Change: I75F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3B7K|C
|
43 |
89 |
8e-11 |
PDB |
|
SCOP:d1lo7a_
|
48 |
80 |
2e-3 |
SMART |
|
| 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-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a null mutation display resistance to high fat diet induced obesity, inflammation and hepatic steatosis, increased energy expenditure, increased brown adipose tissue amount, and increased food intake. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,154 (GRCm39) |
F509Y |
possibly damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,113,578 (GRCm39) |
N427Y |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,522 (GRCm39) |
D89G |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,721,438 (GRCm39) |
T378S |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,615,959 (GRCm39) |
C436S |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,186,634 (GRCm39) |
V429M |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 66,021,492 (GRCm39) |
D311E |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,267,752 (GRCm39) |
K396R |
possibly damaging |
Het |
| Eif4b |
T |
C |
15: 102,003,721 (GRCm39) |
S597P |
probably benign |
Het |
| Ezh1 |
A |
T |
11: 101,104,581 (GRCm39) |
N155K |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,041,862 (GRCm39) |
S157G |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5600 |
T |
C |
7: 113,307,221 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
A |
3: 3,716,470 (GRCm39) |
V298E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,118,268 (GRCm39) |
R446Q |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,162 (GRCm39) |
I611V |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,921,360 (GRCm39) |
E524G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,486,135 (GRCm39) |
D425G |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,555,773 (GRCm39) |
V921L |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,815,408 (GRCm39) |
M470K |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,858,758 (GRCm39) |
Y222C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,649,389 (GRCm39) |
N264S |
possibly damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,752,500 (GRCm39) |
D441G |
probably benign |
Het |
| Samd9l |
G |
T |
6: 3,375,120 (GRCm39) |
Q714K |
probably benign |
Het |
| Scrib |
T |
C |
15: 75,937,967 (GRCm39) |
E293G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,029,380 (GRCm39) |
N255K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,703,050 (GRCm39) |
I141T |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,145,370 (GRCm39) |
L485P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,522 (GRCm39) |
Y706N |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,444 (GRCm39) |
F583L |
possibly damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,887,678 (GRCm39) |
V43A |
probably benign |
Het |
| Ttc24 |
T |
C |
3: 87,977,720 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
A |
G |
17: 87,666,552 (GRCm39) |
T606A |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,202,362 (GRCm39) |
P689T |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc8 |
A |
T |
2: 164,447,700 (GRCm39) |
M120K |
probably damaging |
Het |
|
| Other mutations in Acot11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:Acot11
|
APN |
4 |
106,628,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02408:Acot11
|
APN |
4 |
106,615,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:Acot11
|
APN |
4 |
106,613,050 (GRCm39) |
nonsense |
probably null |
|
|
IGL03156:Acot11
|
APN |
4 |
106,611,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Acot11
|
UTSW |
4 |
106,607,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0485:Acot11
|
UTSW |
4 |
106,619,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0537:Acot11
|
UTSW |
4 |
106,619,652 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0707:Acot11
|
UTSW |
4 |
106,617,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0969:Acot11
|
UTSW |
4 |
106,617,277 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1109:Acot11
|
UTSW |
4 |
106,606,545 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1785:Acot11
|
UTSW |
4 |
106,619,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Acot11
|
UTSW |
4 |
106,619,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Acot11
|
UTSW |
4 |
106,606,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Acot11
|
UTSW |
4 |
106,627,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2509:Acot11
|
UTSW |
4 |
106,612,516 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4558:Acot11
|
UTSW |
4 |
106,605,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4565:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4567:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Acot11
|
UTSW |
4 |
106,612,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5234:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5235:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5409:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5430:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Acot11
|
UTSW |
4 |
106,607,207 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5763:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5787:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6093:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Acot11
|
UTSW |
4 |
106,613,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6727:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Acot11
|
UTSW |
4 |
106,617,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Acot11
|
UTSW |
4 |
106,619,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7257:Acot11
|
UTSW |
4 |
106,615,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Acot11
|
UTSW |
4 |
106,606,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8125:Acot11
|
UTSW |
4 |
106,617,277 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8393:Acot11
|
UTSW |
4 |
106,617,390 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9020:Acot11
|
UTSW |
4 |
106,605,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Acot11
|
UTSW |
4 |
106,615,509 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9633:Acot11
|
UTSW |
4 |
106,613,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation