Incidental Mutation 'R6104:Acot11'
| ID |
485417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot11
|
| Ensembl Gene |
ENSMUSG00000034853 |
| Gene Name |
acyl-CoA thioesterase 11 |
| Synonyms |
2010309H15Rik, Thea, 1110020M10Rik, Them1, BFIT1 |
| MMRRC Submission |
044254-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R6104 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106601752-106662195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106613094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 327
(L327Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065253]
[ENSMUST00000102762]
[ENSMUST00000140541]
|
| AlphaFold |
Q8VHQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065253
AA Change: L347Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
AA Change: L347Q
| 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: L327Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
AA Change: L327Q
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atrip |
C |
T |
9: 108,894,632 (GRCm39) |
A432T |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,856,052 (GRCm39) |
T736A |
probably damaging |
Het |
| Cyp1b1 |
T |
A |
17: 80,017,634 (GRCm39) |
Y507F |
probably damaging |
Het |
| Desi2 |
G |
A |
1: 178,077,018 (GRCm39) |
R174H |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,402,860 (GRCm39) |
K1351N |
possibly damaging |
Het |
| Fads2b |
T |
A |
2: 85,338,693 (GRCm39) |
K149* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,497,161 (GRCm39) |
I535T |
probably damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,750,144 (GRCm39) |
I466N |
possibly damaging |
Het |
| Il17a |
A |
G |
1: 20,802,498 (GRCm39) |
Y69C |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,715,474 (GRCm39) |
D938G |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,127 (GRCm39) |
D316G |
probably benign |
Het |
| Lrba |
C |
A |
3: 86,261,099 (GRCm39) |
A1485E |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,935,319 (GRCm39) |
T1483I |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,022,157 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
T |
A |
18: 74,833,750 (GRCm39) |
I842N |
probably benign |
Het |
| Nckap5l |
C |
T |
15: 99,321,869 (GRCm39) |
S1092N |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,265,250 (GRCm39) |
S273P |
probably damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,422,955 (GRCm39) |
N83D |
probably damaging |
Het |
| Oas3 |
T |
A |
5: 120,899,758 (GRCm39) |
I709F |
unknown |
Het |
| Or1p1 |
C |
A |
11: 74,180,192 (GRCm39) |
T240N |
probably damaging |
Het |
| Or8i2 |
T |
C |
2: 86,852,057 (GRCm39) |
Y277C |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,787,342 (GRCm39) |
D1310G |
probably benign |
Het |
| Ppfia1 |
A |
G |
7: 144,045,311 (GRCm39) |
S949P |
possibly damaging |
Het |
| Pxylp1 |
A |
C |
9: 96,706,800 (GRCm39) |
F461V |
possibly damaging |
Het |
| Rcn3 |
A |
G |
7: 44,740,947 (GRCm39) |
Y54H |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,843,606 (GRCm39) |
H242R |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,407 (GRCm39) |
D735E |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,624,744 (GRCm39) |
I526T |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,556,781 (GRCm39) |
V211A |
possibly damaging |
Het |
| Syt10 |
A |
T |
15: 89,711,067 (GRCm39) |
H155Q |
probably benign |
Het |
| Taar8b |
A |
T |
10: 23,968,135 (GRCm39) |
S20T |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,486,496 (GRCm39) |
I988F |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,666,084 (GRCm39) |
I202K |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,856,130 (GRCm39) |
S17P |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,224,905 (GRCm39) |
S119P |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,578,931 (GRCm39) |
T614A |
probably benign |
Het |
| Vmn2r80 |
A |
C |
10: 78,984,854 (GRCm39) |
N69H |
probably benign |
Het |
| Xylb |
T |
A |
9: 119,193,573 (GRCm39) |
*66R |
probably null |
Het |
| Ylpm1 |
G |
A |
12: 85,076,404 (GRCm39) |
R1043H |
probably benign |
Het |
| Ythdf3 |
G |
A |
3: 16,259,325 (GRCm39) |
V491I |
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 |
|
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'- ATGTTCCAGTTCTGGCAGGC -3'
(R):5'- TGCACACTCTGTACACCTGC -3'
Sequencing Primer
(F):5'- CAGTTCTGGCAGGCAGAGG -3'
(R):5'- GTACACCTGCCTGCCTGTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation