Incidental Mutation 'R5430:Acot11'
| ID |
427118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot11
|
| Ensembl Gene |
ENSMUSG00000034853 |
| Gene Name |
acyl-CoA thioesterase 11 |
| Synonyms |
2010309H15Rik, Thea, 1110020M10Rik, Them1, BFIT1 |
| MMRRC Submission |
042996-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5430 (G1)
|
| Quality Score |
225 |
|
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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
96% (54/56) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
T |
A |
9: 39,963,587 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,611,732 (GRCm39) |
|
probably null |
Het |
| Brsk1 |
T |
C |
7: 4,713,435 (GRCm39) |
F702L |
probably benign |
Het |
| Chrna3 |
C |
T |
9: 54,920,192 (GRCm39) |
V470I |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,511,986 (GRCm39) |
Q310R |
possibly damaging |
Het |
| Dennd5a |
T |
C |
7: 109,533,447 (GRCm39) |
T108A |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,342,481 (GRCm39) |
R145W |
probably damaging |
Het |
| E4f1 |
G |
A |
17: 24,663,944 (GRCm39) |
A532V |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,550 (GRCm39) |
T147A |
probably damaging |
Het |
| Eipr1 |
A |
T |
12: 28,913,015 (GRCm39) |
N239Y |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,760,417 (GRCm39) |
I1777M |
probably damaging |
Het |
| Gm11787 |
A |
T |
4: 3,512,786 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
C |
3: 108,005,716 (GRCm39) |
L227P |
probably damaging |
Het |
| H2-T15 |
C |
T |
17: 36,366,967 (GRCm39) |
V359I |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,943,626 (GRCm39) |
H190R |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,126,276 (GRCm39) |
W570R |
possibly damaging |
Het |
| Lmbrd1 |
A |
G |
1: 24,732,061 (GRCm39) |
T93A |
possibly damaging |
Het |
| Lrch4 |
T |
C |
5: 137,636,795 (GRCm39) |
S433P |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,376,930 (GRCm39) |
R4216W |
probably damaging |
Het |
| Magohb |
A |
G |
6: 131,266,381 (GRCm39) |
Y42H |
probably damaging |
Het |
| Melk |
A |
G |
4: 44,309,033 (GRCm39) |
H130R |
probably damaging |
Het |
| Mettl24 |
G |
T |
10: 40,613,780 (GRCm39) |
R173L |
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,960,044 (GRCm39) |
H73Q |
probably damaging |
Het |
| Mylk2 |
A |
T |
2: 152,759,468 (GRCm39) |
E386V |
probably damaging |
Het |
| Nppb |
C |
T |
4: 148,070,838 (GRCm39) |
P71L |
probably benign |
Het |
| Oca2 |
T |
C |
7: 55,945,208 (GRCm39) |
V272A |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,215,304 (GRCm39) |
I289N |
probably damaging |
Het |
| Or2t6 |
C |
T |
14: 14,175,692 (GRCm38) |
R130H |
probably benign |
Het |
| Or4c10 |
A |
T |
2: 89,760,257 (GRCm39) |
I35F |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,416,482 (GRCm39) |
S628P |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,775,843 (GRCm39) |
V253A |
probably damaging |
Het |
| Pex12 |
T |
C |
11: 83,188,572 (GRCm39) |
D141G |
probably damaging |
Het |
| Ppm1k |
A |
T |
6: 57,501,871 (GRCm39) |
C97* |
probably null |
Het |
| Ptprh |
T |
A |
7: 4,554,046 (GRCm39) |
E807V |
probably damaging |
Het |
| Sema3a |
A |
T |
5: 13,615,730 (GRCm39) |
T385S |
probably damaging |
Het |
| Sfn |
T |
C |
4: 133,328,938 (GRCm39) |
Y48C |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,220,959 (GRCm39) |
I200T |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,665,776 (GRCm39) |
V758A |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,463 (GRCm39) |
M190V |
possibly damaging |
Het |
| Syt3 |
T |
G |
7: 44,040,337 (GRCm39) |
L190R |
possibly damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,246,246 (GRCm39) |
D255E |
probably benign |
Het |
| Ttbk2 |
C |
T |
2: 120,608,046 (GRCm39) |
R191H |
probably damaging |
Het |
| Vmn1r238 |
G |
T |
18: 3,122,521 (GRCm39) |
L298M |
possibly damaging |
Het |
| Vmn2r45 |
A |
C |
7: 8,486,333 (GRCm39) |
Y318* |
probably null |
Het |
| Vsig8 |
T |
C |
1: 172,387,196 (GRCm39) |
I24T |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,064,643 (GRCm39) |
T166I |
possibly damaging |
Het |
| Zfp354c |
A |
G |
11: 50,706,022 (GRCm39) |
I351T |
probably benign |
Het |
| Zfp52 |
A |
G |
17: 21,775,329 (GRCm39) |
T8A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGGAAATCTAGGGTTCTCC -3'
(R):5'- ATGGAGGGTGTCATTGTCCC -3'
Sequencing Primer
(F):5'- TAGGGTTCTCCTAGCAGAGCAC -3'
(R):5'- CAGGGCTTCCATGGACAGTCTATC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation