Incidental Mutation 'R5235:Acot11'
ID |
398284 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acot11
|
Ensembl Gene |
ENSMUSG00000034853 |
Gene Name |
acyl-CoA thioesterase 11 |
Synonyms |
2010309H15Rik, Thea, 1110020M10Rik, Them1, BFIT1 |
MMRRC Submission |
042807-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R5235 (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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
A |
7: 41,274,256 (GRCm39) |
H126Q |
possibly damaging |
Het |
Aga |
A |
G |
8: 53,967,361 (GRCm39) |
H124R |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,572,212 (GRCm39) |
G49R |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,096,714 (GRCm39) |
V270L |
possibly damaging |
Het |
Arfrp1 |
T |
C |
2: 181,001,298 (GRCm39) |
H145R |
probably benign |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Atg3 |
A |
G |
16: 44,979,520 (GRCm39) |
T20A |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,881 (GRCm39) |
L112P |
probably damaging |
Het |
Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,492,674 (GRCm39) |
T3156A |
probably benign |
Het |
Dag1 |
T |
C |
9: 108,084,897 (GRCm39) |
Y748C |
probably damaging |
Het |
Dek |
A |
T |
13: 47,239,955 (GRCm39) |
|
probably null |
Het |
Fras1 |
G |
A |
5: 96,748,609 (GRCm39) |
V695M |
probably benign |
Het |
Gpx7 |
A |
G |
4: 108,258,189 (GRCm39) |
S135P |
probably damaging |
Het |
Ido2 |
A |
T |
8: 25,037,202 (GRCm39) |
I168N |
probably damaging |
Het |
Lca5 |
A |
T |
9: 83,305,107 (GRCm39) |
L233* |
probably null |
Het |
Liph |
A |
C |
16: 21,802,785 (GRCm39) |
L95V |
probably damaging |
Het |
Mast1 |
A |
T |
8: 85,640,068 (GRCm39) |
L1113Q |
probably damaging |
Het |
Nlrx1 |
C |
T |
9: 44,175,047 (GRCm39) |
G243D |
probably damaging |
Het |
Or4ac1-ps1 |
G |
A |
2: 88,370,769 (GRCm39) |
|
noncoding transcript |
Het |
Or5d40 |
T |
A |
2: 88,015,912 (GRCm39) |
D230E |
probably benign |
Het |
Otoa |
T |
C |
7: 120,755,693 (GRCm39) |
L1033P |
probably damaging |
Het |
Ovol3 |
A |
T |
7: 29,932,899 (GRCm39) |
Y179N |
possibly damaging |
Het |
Papss2 |
A |
G |
19: 32,616,619 (GRCm39) |
N215S |
probably benign |
Het |
Pcdhga8 |
T |
C |
18: 37,860,488 (GRCm39) |
Y515H |
probably damaging |
Het |
Phlda1 |
CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC |
CCAGCCCCAACCTCAGCCCCAACC |
10: 111,343,252 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
T |
2: 65,582,355 (GRCm39) |
N1568Y |
probably damaging |
Het |
Sec16b |
A |
T |
1: 157,362,334 (GRCm39) |
I251F |
probably benign |
Het |
Slc29a4 |
T |
A |
5: 142,704,523 (GRCm39) |
I355N |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,231,110 (GRCm39) |
C39F |
possibly damaging |
Het |
Spata16 |
A |
G |
3: 26,721,781 (GRCm39) |
M101V |
probably benign |
Het |
Stat2 |
T |
C |
10: 128,126,901 (GRCm39) |
|
probably null |
Het |
Tdpoz8 |
A |
G |
3: 92,981,393 (GRCm39) |
D137G |
probably damaging |
Het |
Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
Tpm3 |
A |
G |
3: 89,993,802 (GRCm39) |
E97G |
probably damaging |
Het |
Ugt8a |
A |
C |
3: 125,661,129 (GRCm39) |
H454Q |
probably damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,169,013 (GRCm39) |
I706L |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 101,994,972 (GRCm39) |
I3256V |
probably null |
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 |
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'- TAGGGTTCTCCTAGCAGAGCAC -3'
(R):5'- AACGTTTCAGGGTATGGAGG -3'
Sequencing Primer
(F):5'- GTTCTCCTAGCAGAGCACCCAAG -3'
(R):5'- GTGTCATTGTCCCAGGGC -3'
|
Posted On |
2016-07-06 |