Incidental Mutation 'R5788:Acot11'
ID |
448135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acot11
|
Ensembl Gene |
ENSMUSG00000034853 |
Gene Name |
acyl-CoA thioesterase 11 |
Synonyms |
2010309H15Rik, Thea, 1110020M10Rik, Them1, BFIT1 |
MMRRC Submission |
043382-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R5788 (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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
98% (62/63) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
A |
G |
7: 131,045,328 (GRCm39) |
Y420C |
probably benign |
Het |
Amfr |
T |
A |
8: 94,726,942 (GRCm39) |
R90S |
probably 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 |
Atp8a2 |
T |
A |
14: 60,258,242 (GRCm39) |
D440V |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,177,178 (GRCm39) |
D2022G |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,385,498 (GRCm39) |
F77S |
probably benign |
Het |
Ccdc66 |
C |
T |
14: 27,220,448 (GRCm39) |
R255H |
probably benign |
Het |
Ckm |
A |
G |
7: 19,153,372 (GRCm39) |
D152G |
probably benign |
Het |
Cpsf7 |
T |
G |
19: 10,518,082 (GRCm39) |
S431A |
possibly damaging |
Het |
Csmd1 |
T |
C |
8: 16,251,980 (GRCm39) |
T959A |
probably damaging |
Het |
Dkk4 |
T |
C |
8: 23,115,347 (GRCm39) |
C66R |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,232,465 (GRCm39) |
W2058R |
probably damaging |
Het |
Evi5l |
A |
T |
8: 4,256,800 (GRCm39) |
|
probably benign |
Het |
Fancg |
A |
T |
4: 43,007,130 (GRCm39) |
|
probably benign |
Het |
Flg2 |
A |
T |
3: 93,108,296 (GRCm39) |
H108L |
probably benign |
Het |
Fzd2 |
A |
T |
11: 102,496,293 (GRCm39) |
T246S |
probably benign |
Het |
Gm10428 |
T |
G |
11: 62,644,107 (GRCm39) |
|
probably benign |
Het |
Gm1988 |
T |
A |
7: 38,821,627 (GRCm39) |
|
noncoding transcript |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm7133 |
A |
T |
1: 97,171,201 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,717,962 (GRCm39) |
N710S |
probably benign |
Het |
Hcn2 |
T |
C |
10: 79,552,945 (GRCm39) |
V148A |
possibly damaging |
Het |
Hephl1 |
A |
G |
9: 14,995,579 (GRCm39) |
L483S |
possibly damaging |
Het |
Hinfp |
C |
T |
9: 44,209,105 (GRCm39) |
E338K |
possibly damaging |
Het |
Hsd17b4 |
G |
A |
18: 50,306,776 (GRCm39) |
D494N |
probably damaging |
Het |
Ipo4 |
C |
T |
14: 55,866,277 (GRCm39) |
V801M |
probably benign |
Het |
Kcns2 |
A |
C |
15: 34,839,000 (GRCm39) |
Y121S |
probably benign |
Het |
Kif1c |
T |
A |
11: 70,599,654 (GRCm39) |
L462H |
probably damaging |
Het |
Lrrk2 |
T |
G |
15: 91,648,851 (GRCm39) |
V1615G |
possibly damaging |
Het |
Naca |
G |
A |
10: 127,876,011 (GRCm39) |
|
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Ndufs2 |
A |
G |
1: 171,066,954 (GRCm39) |
Y135H |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,965,114 (GRCm39) |
V1566A |
probably benign |
Het |
Or52d13 |
C |
T |
7: 103,110,086 (GRCm39) |
V110I |
possibly damaging |
Het |
Or52n4b |
T |
C |
7: 108,144,551 (GRCm39) |
I271T |
probably damaging |
Het |
Or5t17 |
A |
G |
2: 86,832,645 (GRCm39) |
T111A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,336,779 (GRCm39) |
M1V |
probably null |
Het |
Or6c75 |
A |
T |
10: 129,336,763 (GRCm39) |
L3F |
probably benign |
Het |
Pcid2 |
C |
T |
8: 13,150,320 (GRCm39) |
|
probably null |
Het |
Pld4 |
A |
C |
12: 112,730,551 (GRCm39) |
I145L |
probably benign |
Het |
Pogk |
A |
T |
1: 166,236,580 (GRCm39) |
|
probably benign |
Het |
Rhbg |
C |
T |
3: 88,152,874 (GRCm39) |
V280I |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rxfp3 |
A |
G |
15: 11,036,250 (GRCm39) |
F374S |
possibly damaging |
Het |
Son |
A |
G |
16: 91,456,940 (GRCm39) |
|
probably benign |
Het |
Specc1l |
G |
T |
10: 75,112,755 (GRCm39) |
R994L |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,531 (GRCm39) |
D23E |
probably damaging |
Het |
Teddm2 |
A |
T |
1: 153,726,810 (GRCm39) |
H21Q |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,675,737 (GRCm39) |
T780A |
possibly damaging |
Het |
Thbs1 |
T |
A |
2: 117,952,989 (GRCm39) |
D866E |
probably damaging |
Het |
Tmed4 |
A |
G |
11: 6,221,743 (GRCm39) |
W198R |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,749,575 (GRCm39) |
C3825S |
probably benign |
Het |
Uchl1 |
T |
A |
5: 66,833,754 (GRCm39) |
|
probably benign |
Het |
Wsb2 |
A |
G |
5: 117,515,483 (GRCm39) |
T363A |
possibly damaging |
Het |
Zfp266 |
A |
G |
9: 20,417,332 (GRCm39) |
Y19H |
probably damaging |
Het |
Zkscan17 |
A |
G |
11: 59,378,086 (GRCm39) |
C366R |
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 |
R5787: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'- GCTCCAGAGGTGTGGAAATC -3'
(R):5'- ATTGTCCCAGGGCTTCCATG -3'
Sequencing Primer
(F):5'- TAGGGTTCTCCTAGCAGAGCAC -3'
(R):5'- CCATGGACAGTCTATCCTTAGGG -3'
|
Posted On |
2016-12-15 |