Incidental Mutation 'R4558:Acot11'
| ID |
342939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot11
|
| Ensembl Gene |
ENSMUSG00000034853 |
| Gene Name |
acyl-CoA thioesterase 11 |
| Synonyms |
2010309H15Rik, Thea, 1110020M10Rik, Them1, BFIT1 |
| MMRRC Submission |
042005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R4558 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106601752-106662195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106605563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 583
(N583S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047620]
[ENSMUST00000065253]
[ENSMUST00000102762]
[ENSMUST00000140541]
|
| AlphaFold |
Q8VHQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047620
|
| SMART Domains |
Protein: ENSMUSP00000047860
Gene: ENSMUSG00000034871
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:DUF2181
|
70 |
310 |
2.9e-107 |
PFAM |
|
Pfam:DUF2181
|
342 |
579 |
8e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065253
AA Change: N603S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
AA Change: N603S
| 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: N583S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
AA Change: N583S
| 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 |
|
| Meta Mutation Damage Score |
0.0909 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Alox12 |
T |
G |
11: 70,143,889 (GRCm39) |
M164L |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,884,851 (GRCm39) |
M279K |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,825,670 (GRCm39) |
T502A |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,352,742 (GRCm39) |
Y188F |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,557,799 (GRCm39) |
Y790C |
possibly damaging |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,968,963 (GRCm39) |
S37N |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,297 (GRCm39) |
S3677P |
possibly damaging |
Het |
| Gm10764 |
A |
G |
10: 87,126,682 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
T |
C |
17: 35,647,291 (GRCm39) |
V312A |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,422,190 (GRCm39) |
D972V |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 33,807,578 (GRCm39) |
T2597I |
possibly damaging |
Het |
| Kng1 |
C |
A |
16: 22,896,168 (GRCm39) |
|
probably null |
Het |
| Med13 |
T |
C |
11: 86,189,880 (GRCm39) |
T1010A |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
| Ncapg |
A |
T |
5: 45,833,986 (GRCm39) |
T341S |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
| Pcdhb4 |
A |
G |
18: 37,443,017 (GRCm39) |
I776V |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,122,542 (GRCm39) |
M1V |
probably null |
Het |
| Psd4 |
G |
A |
2: 24,294,806 (GRCm39) |
V789M |
probably damaging |
Het |
| Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,338,482 (GRCm39) |
E139V |
probably benign |
Het |
| Sgsm1 |
G |
A |
5: 113,405,977 (GRCm39) |
|
probably benign |
Het |
| Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,978,404 (GRCm39) |
M423V |
unknown |
Het |
| Vmn1r207 |
A |
G |
13: 22,910,581 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAAAGACTTGCAGGCAG -3'
(R):5'- CAAGGTTGTATCTGTTGCTTCC -3'
Sequencing Primer
(F):5'- CTTGCAGGCAGATGTGAGC -3'
(R):5'- TTCCCCAGAAGGCAAGCAAGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation