Incidental Mutation 'R0485:Acot11'
ID 42191
Institutional Source Beutler Lab
Gene Symbol Acot11
Ensembl Gene ENSMUSG00000034853
Gene Name acyl-CoA thioesterase 11
Synonyms 2010309H15Rik, Thea, 1110020M10Rik, Them1, BFIT1
MMRRC Submission 038684-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R0485 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 106601752-106662195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106619224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 184 (R184C)
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: R204C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
AA Change: R204C

DomainStartEndE-ValueType
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: R184C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
AA Change: R184C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:3B7K|C 32 71 3e-10 PDB
SCOP:d1lo7a_ 37 69 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145061
SMART Domains Protein: ENSMUSP00000125123
Gene: ENSMUSG00000034853

DomainStartEndE-ValueType
Pfam:4HBT 49 107 4.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148688
SMART Domains Protein: ENSMUSP00000124385
Gene: ENSMUSG00000034853

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:3B7K|C 43 89 8e-11 PDB
SCOP:d1lo7a_ 48 80 2e-3 SMART
Meta Mutation Damage Score 0.1839 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency 100% (95/95)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik A G 16: 3,725,511 (GRCm39) V5A probably damaging Het
Abi3bp A G 16: 56,424,375 (GRCm39) probably null Het
Adgre5 A T 8: 84,458,627 (GRCm39) I133N probably damaging Het
Afap1 A T 5: 36,108,347 (GRCm39) Q231L probably damaging Het
Alg12 T C 15: 88,695,630 (GRCm39) T289A probably benign Het
Ank3 T A 10: 69,718,374 (GRCm39) S542T possibly damaging Het
Ankmy2 G A 12: 36,232,389 (GRCm39) R138Q possibly damaging Het
Ascc2 C T 11: 4,622,302 (GRCm39) A456V probably benign Het
Atg4c G A 4: 99,112,719 (GRCm39) V289I probably benign Het
Bbs7 A T 3: 36,657,022 (GRCm39) Y269N probably damaging Het
Bcas3 T A 11: 85,386,676 (GRCm39) D370E probably damaging Het
Bicc1 T G 10: 70,761,145 (GRCm39) E955A probably damaging Het
Bok T C 1: 93,616,999 (GRCm39) F115S probably damaging Het
Caap1 A T 4: 94,438,758 (GRCm39) probably null Het
Cacna2d3 T A 14: 29,256,476 (GRCm39) M95L possibly damaging Het
Calcrl T A 2: 84,200,435 (GRCm39) D115V probably benign Het
Car7 A T 8: 105,270,170 (GRCm39) M57L probably benign Het
Casq1 G T 1: 172,037,957 (GRCm39) probably benign Het
Cep290 A T 10: 100,385,206 (GRCm39) D1894V possibly damaging Het
Clec4a2 T A 6: 123,100,588 (GRCm39) N14K probably damaging Het
Col16a1 G T 4: 129,984,290 (GRCm39) probably benign Het
Col5a1 T C 2: 27,880,109 (GRCm39) probably benign Het
Col5a2 A T 1: 45,417,642 (GRCm39) I1311N probably damaging Het
Col5a3 T C 9: 20,694,004 (GRCm39) T1050A probably damaging Het
Colgalt2 A T 1: 152,360,622 (GRCm39) I220F probably damaging Het
Cpb1 A T 3: 20,329,792 (GRCm39) V8E unknown Het
Dchs1 C T 7: 105,421,934 (GRCm39) R162H probably benign Het
Dhx37 A G 5: 125,499,295 (GRCm39) Y638H probably benign Het
Dhx40 T G 11: 86,662,088 (GRCm39) probably benign Het
Ehd2 T A 7: 15,686,001 (GRCm39) Q357L probably benign Het
Ewsr1 T C 11: 5,020,737 (GRCm39) probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gid8 T A 2: 180,355,004 (GRCm39) Y3* probably null Het
Gm10212 A C 19: 11,548,174 (GRCm39) noncoding transcript Het
Grin3b T A 10: 79,809,890 (GRCm39) N465K possibly damaging Het
H1f3 A T 13: 23,739,924 (GRCm39) K221* probably null Het
Htr4 A T 18: 62,561,225 (GRCm39) N162I probably damaging Het
Irag2 T C 6: 145,110,938 (GRCm39) C248R probably damaging Het
Itga3 T C 11: 94,952,796 (GRCm39) D325G probably benign Het
Itpr3 T G 17: 27,330,903 (GRCm39) V1737G probably damaging Het
Kcnab2 C T 4: 152,479,439 (GRCm39) V251I probably benign Het
Kcnn2 A T 18: 45,693,215 (GRCm39) I264L probably benign Het
Klhl41 T C 2: 69,501,600 (GRCm39) Y354H probably damaging Het
Klra6 T C 6: 130,000,601 (GRCm39) I68V probably benign Het
Letm2 G T 8: 26,082,574 (GRCm39) P178Q probably damaging Het
Lypd11 C A 7: 24,422,170 (GRCm39) C193F possibly damaging Het
Mbtps1 A T 8: 120,249,340 (GRCm39) probably benign Het
Mecom C T 3: 30,035,121 (GRCm39) probably benign Het
Mrps5 T A 2: 127,433,745 (GRCm39) S45T possibly damaging Het
Msra T A 14: 64,678,210 (GRCm39) I29F possibly damaging Het
Mup5 T C 4: 61,751,229 (GRCm39) probably null Het
Myo1a T C 10: 127,555,111 (GRCm39) probably benign Het
Myrip C A 9: 120,270,443 (GRCm39) N564K probably benign Het
Naa20 T A 2: 145,757,592 (GRCm39) D148E probably damaging Het
Naga T G 15: 82,220,956 (GRCm39) probably benign Het
Npc1 A G 18: 12,346,503 (GRCm39) V231A probably benign Het
Nphs1 T C 7: 30,166,940 (GRCm39) F716L probably benign Het
Or8s5 T C 15: 98,238,810 (GRCm39) H20R probably benign Het
Parn G C 16: 13,472,299 (GRCm39) probably benign Het
Polk A T 13: 96,620,272 (GRCm39) C664S probably benign Het
Prkar2b A G 12: 32,026,034 (GRCm39) probably benign Het
Prkdc A G 16: 15,651,604 (GRCm39) E3747G probably damaging Het
Prmt5 A T 14: 54,748,712 (GRCm39) M362K probably damaging Het
Prob1 T C 18: 35,786,878 (GRCm39) T459A possibly damaging Het
Rttn C T 18: 89,108,543 (GRCm39) probably benign Het
Scn1a T C 2: 66,104,269 (GRCm39) M1664V probably damaging Het
Sez6 T A 11: 77,844,639 (GRCm39) L154H probably damaging Het
Sh3tc1 A G 5: 35,859,356 (GRCm39) probably benign Het
Shkbp1 C T 7: 27,048,006 (GRCm39) G334D probably damaging Het
Slc8a1 A T 17: 81,955,422 (GRCm39) F539I probably damaging Het
Spata31e5 G T 1: 28,817,223 (GRCm39) Q270K probably damaging Het
Sptan1 T C 2: 29,903,860 (GRCm39) probably benign Het
Ssc5d C T 7: 4,940,470 (GRCm39) T861M probably damaging Het
Tbx5 A T 5: 120,021,523 (GRCm39) M510L probably benign Het
Tdp1 A G 12: 99,876,101 (GRCm39) T351A probably benign Het
Tmc8 T A 11: 117,682,904 (GRCm39) probably benign Het
Tmco5 T A 2: 116,720,588 (GRCm39) D205E probably benign Het
Tmprss2 T C 16: 97,373,194 (GRCm39) probably benign Het
Top6bl A T 19: 4,708,442 (GRCm39) I350N probably damaging Het
Tph1 T A 7: 46,299,448 (GRCm39) K364N probably benign Het
Trim24 T C 6: 37,934,001 (GRCm39) L648P probably damaging Het
Trmt6 C A 2: 132,650,950 (GRCm39) probably benign Het
Ube2i A T 17: 25,488,259 (GRCm39) probably benign Het
Vcan A C 13: 89,852,779 (GRCm39) L727R possibly damaging Het
Vmn2r28 T C 7: 5,491,689 (GRCm39) Y186C probably damaging Het
Wars1 C A 12: 108,841,083 (GRCm39) D232Y probably damaging Het
Xrcc5 T C 1: 72,378,104 (GRCm39) probably benign Het
Zbtb24 T A 10: 41,340,532 (GRCm39) S543T probably damaging Het
Zfp91 A G 19: 12,753,353 (GRCm39) probably benign Het
Other mutations in Acot11
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CAGGTCATCCGGCATCAACAAGAG -3'
(R):5'- AGAGGACTATGCCCTGTCAGGTTAC -3'

Sequencing Primer
(F):5'- gggggaggagggagaag -3'
(R):5'- TGCCCTGTCAGGTTACAATAGAG -3'
Posted On 2013-05-23