Incidental Mutation 'R6726:Acot11'
| ID |
529856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot11
|
| Ensembl Gene |
ENSMUSG00000034853 |
| Gene Name |
acyl-CoA thioesterase 11 |
| Synonyms |
2010309H15Rik, Thea, 1110020M10Rik, Them1, BFIT1 |
| MMRRC Submission |
044844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R6726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
T |
A |
2: 166,735,540 (GRCm39) |
|
probably null |
Het |
| Arsk |
T |
C |
13: 76,222,907 (GRCm39) |
Y230C |
probably damaging |
Het |
| Atf7ip |
G |
A |
6: 136,559,389 (GRCm39) |
V737M |
probably damaging |
Het |
| Atp6v1e1 |
A |
T |
6: 120,781,011 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
C |
9: 22,557,260 (GRCm39) |
V3A |
probably benign |
Het |
| Brap |
T |
C |
5: 121,813,365 (GRCm39) |
S243P |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,702,037 (GRCm39) |
I167N |
probably damaging |
Het |
| Ckap2l |
C |
A |
2: 129,111,114 (GRCm39) |
E694D |
probably damaging |
Het |
| Crmp1 |
G |
A |
5: 37,441,408 (GRCm39) |
V497I |
probably benign |
Het |
| Dbx2 |
A |
G |
15: 95,522,741 (GRCm39) |
V322A |
possibly damaging |
Het |
| Dll1 |
C |
A |
17: 15,590,513 (GRCm39) |
C401F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,490,147 (GRCm39) |
T1991A |
probably damaging |
Het |
| Dock3 |
C |
T |
9: 107,036,651 (GRCm39) |
W42* |
probably null |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,287 (GRCm39) |
E426G |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Irs2 |
T |
C |
8: 11,054,961 (GRCm39) |
N1157S |
possibly damaging |
Het |
| Kndc1 |
T |
C |
7: 139,502,667 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
T |
C |
1: 127,748,185 (GRCm39) |
N1241S |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,615,906 (GRCm39) |
F17S |
possibly damaging |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,683,657 (GRCm39) |
D41E |
probably damaging |
Het |
| Plg |
T |
G |
17: 12,597,595 (GRCm39) |
L14R |
probably damaging |
Het |
| Prkab1 |
A |
G |
5: 116,158,092 (GRCm39) |
V168A |
probably benign |
Het |
| Prr35 |
G |
C |
17: 26,166,689 (GRCm39) |
P283A |
probably benign |
Het |
| Ptdss1 |
C |
T |
13: 67,101,595 (GRCm39) |
R95* |
probably null |
Het |
| Rab3gap2 |
T |
G |
1: 184,980,062 (GRCm39) |
S327A |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Homo |
| Sdr42e2 |
T |
C |
7: 120,425,332 (GRCm39) |
S308P |
probably damaging |
Het |
| Senp8 |
C |
A |
9: 59,644,473 (GRCm39) |
V228L |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,594,628 (GRCm39) |
I197K |
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,854,718 (GRCm39) |
N231S |
probably benign |
Het |
| Sez6l2 |
T |
C |
7: 126,567,177 (GRCm39) |
V869A |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,380,769 (GRCm39) |
K688* |
probably null |
Het |
| Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
| Ufsp2 |
T |
C |
8: 46,438,504 (GRCm39) |
M194T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,485,881 (GRCm39) |
I2997T |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,637 (GRCm39) |
G730D |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,059,822 (GRCm39) |
Y411H |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,343,212 (GRCm39) |
S1818P |
possibly 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 |
|
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 |
|
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'- CTCCAGAGGTGTGGAAATCTAGGG -3'
(R):5'- TGTCATTGTCCCAGGGCTTC -3'
Sequencing Primer
(F):5'- TAGGGTTCTCCTAGCAGAGCAC -3'
(R):5'- CCATGGACAGTCTATCCTTAGGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation