Incidental Mutation 'R5787:Acot11'
| ID |
448069 |
| Institutional Source |
Beutler Lab
|
| 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: 0.185)
|
| Stock # |
R5787 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106601752-106662195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106617327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 240
(G240R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099823
(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: G260R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
AA Change: G260R
| 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 |
probably damaging
Transcript: ENSMUST00000102762
AA Change: G240R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
AA Change: G240R
| 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 |
probably benign
Transcript: ENSMUST00000140541
|
| SMART Domains |
Protein: ENSMUSP00000124567
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3B7K|C
|
32 |
71 |
3e-10 |
PDB |
|
SCOP:d1lo7a_
|
37 |
69 |
2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144809
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145061
|
| SMART Domains |
Protein: ENSMUSP00000125123
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
49 |
107 |
4.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148688
|
| SMART Domains |
Protein: ENSMUSP00000124385
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3B7K|C
|
28 |
93 |
6e-23 |
PDB |
|
SCOP:d1lo7a_
|
33 |
93 |
5e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156567
|
| SMART Domains |
Protein: ENSMUSP00000123942
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3B7K|C
|
43 |
89 |
8e-11 |
PDB |
|
SCOP:d1lo7a_
|
48 |
80 |
2e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.9500 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 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-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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,941 (GRCm39) |
N470D |
possibly damaging |
Het |
| Adcy8 |
T |
C |
15: 64,576,067 (GRCm39) |
D1027G |
probably damaging |
Het |
| Amph |
A |
T |
13: 19,132,624 (GRCm39) |
I8F |
possibly damaging |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
| Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,909,400 (GRCm39) |
D43G |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,046,882 (GRCm39) |
|
probably null |
Het |
| Btnl10 |
T |
A |
11: 58,811,169 (GRCm39) |
I164N |
probably damaging |
Het |
| Ccdc174 |
C |
T |
6: 91,858,291 (GRCm39) |
Q71* |
probably null |
Het |
| Ceacam3 |
G |
A |
7: 16,888,971 (GRCm39) |
E247K |
possibly damaging |
Het |
| Chrna2 |
A |
G |
14: 66,386,457 (GRCm39) |
D201G |
probably benign |
Het |
| Clasp2 |
G |
A |
9: 113,691,310 (GRCm39) |
D448N |
probably damaging |
Het |
| Clcn2 |
C |
A |
16: 20,522,183 (GRCm39) |
R829L |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,384,898 (GRCm39) |
S440P |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,797 (GRCm39) |
D29G |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,260,438 (GRCm39) |
I304V |
probably benign |
Het |
| Cyp11a1 |
C |
A |
9: 57,922,550 (GRCm39) |
Q77K |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,935,313 (GRCm39) |
V101A |
probably benign |
Het |
| Cyp4f15 |
T |
C |
17: 32,921,782 (GRCm39) |
F485L |
probably damaging |
Het |
| Des |
T |
A |
1: 75,340,290 (GRCm39) |
V399E |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,592,145 (GRCm39) |
D301G |
possibly damaging |
Het |
| Ear6 |
A |
G |
14: 52,091,855 (GRCm39) |
E134G |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,901,637 (GRCm39) |
D100G |
probably damaging |
Het |
| Erich1 |
T |
C |
8: 14,083,776 (GRCm39) |
|
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Htr4 |
T |
C |
18: 62,546,693 (GRCm39) |
V82A |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,052,985 (GRCm39) |
D219G |
probably damaging |
Het |
| Ifit1 |
T |
A |
19: 34,624,975 (GRCm39) |
V37E |
probably benign |
Het |
| Isg20 |
T |
A |
7: 78,569,558 (GRCm39) |
D176E |
probably benign |
Het |
| Islr2 |
A |
G |
9: 58,105,637 (GRCm39) |
V585A |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,422,663 (GRCm39) |
E991G |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,726 (GRCm39) |
Y104C |
probably damaging |
Het |
| Lrtm1 |
G |
C |
14: 28,743,947 (GRCm39) |
E138D |
possibly damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,461,682 (GRCm39) |
N64D |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
| Nop9 |
T |
G |
14: 55,983,791 (GRCm39) |
C141G |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,146,141 (GRCm39) |
E471G |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,633,593 (GRCm39) |
T246A |
possibly damaging |
Het |
| Or2t1 |
A |
C |
14: 14,328,725 (GRCm38) |
M205L |
probably damaging |
Het |
| Or4a76 |
T |
A |
2: 89,461,018 (GRCm39) |
I75F |
probably benign |
Het |
| Or6z1 |
A |
T |
7: 6,504,989 (GRCm39) |
S79T |
probably damaging |
Het |
| Pdlim4 |
T |
A |
11: 53,946,042 (GRCm39) |
D271V |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,430,753 (GRCm39) |
V518A |
possibly damaging |
Het |
| Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
| Rbsn |
C |
T |
6: 92,176,797 (GRCm39) |
V239I |
possibly damaging |
Het |
| Rsph14 |
T |
A |
10: 74,793,460 (GRCm39) |
I314F |
possibly damaging |
Het |
| S1pr2 |
A |
T |
9: 20,879,232 (GRCm39) |
S199T |
probably benign |
Het |
| Scrib |
A |
G |
15: 75,931,151 (GRCm39) |
L902P |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,360,825 (GRCm39) |
T200A |
probably damaging |
Het |
| Slc8a1 |
A |
T |
17: 81,696,166 (GRCm39) |
I956N |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,748,812 (GRCm39) |
V15A |
possibly damaging |
Het |
| Stim1 |
T |
A |
7: 102,084,647 (GRCm39) |
V533E |
possibly damaging |
Het |
| Tbck |
A |
T |
3: 132,443,329 (GRCm39) |
D585V |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,271,037 (GRCm39) |
L80Q |
probably benign |
Het |
| Trim67 |
C |
T |
8: 125,521,051 (GRCm39) |
R138* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,580,627 (GRCm39) |
N23422S |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,260,511 (GRCm39) |
*1023Q |
probably null |
Het |
| Vmn1r208 |
T |
C |
13: 22,956,841 (GRCm39) |
N219D |
possibly damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,244 (GRCm39) |
S98R |
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 |
|
IGL01896:Acot11
|
APN |
4 |
106,628,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAGAGGTGTGGAAATCTAG -3'
(R):5'- TGTCATTGTCCCAGGGCTTC -3'
Sequencing Primer
(F):5'- TAGGGTTCTCCTAGCAGAGCAC -3'
(R):5'- CCATGGACAGTCTATCCTTAGGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation