Mutagenetix > Incidental Mutations

Incidental Mutation 'R0707:Acot11'

63157

Institutional Source

Beutler Lab

Gene Symbol

Acot11

Ensembl Gene

ENSMUSG00000034853

Gene Name

acyl-CoA thioesterase 11

Synonyms

Thea, Them1, 2010309H15Rik, 1110020M10Rik, BFIT1

MMRRC Submission

038890-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R0707 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

106744555-106804998 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106760132 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 259 (F259S)

Ref Sequence

ENSEMBL: ENSMUSP00000069636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065253] [ENSMUST00000102762] [ENSMUST00000140541] [ENSMUST00000145061] [ENSMUST00000148688] [ENSMUST00000156567]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065253
AA Change: F259S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
AA Change: F259S

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: F239S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
AA Change: F239S

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

0.8322

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,258,321	N2881K	unknown	Het
Aldh16a1	T	A	7: 45,144,507		probably benign	Het
Ankrd24	A	T	10: 81,642,713		probably benign	Het
Arhgap5	T	C	12: 52,518,168	S641P	probably damaging	Het
Arpp21	A	C	9: 112,157,756	S242R	probably benign	Het
Bpifb5	A	G	2: 154,228,900	T204A	probably benign	Het
Bud31	A	G	5: 145,146,455	Y77C	probably damaging	Het
Ccdc65	G	A	15: 98,709,214	V101I	possibly damaging	Het
Ccr7	T	A	11: 99,145,983	T38S	probably damaging	Het
Cdc14a	T	C	3: 116,293,713		probably benign	Het
Ces2f	C	T	8: 104,950,986	H208Y	possibly damaging	Het
Chst1	C	A	2: 92,613,619	N145K	possibly damaging	Het
Clock	A	G	5: 76,227,129	V731A	possibly damaging	Het
Cog6	C	T	3: 53,013,862	V108I	possibly damaging	Het
Crtc2	T	A	3: 90,263,497	F626I	probably damaging	Het
Dicer1	A	T	12: 104,706,885	F792I	probably damaging	Het
Dnajc13	T	C	9: 104,172,582	K1780R	probably benign	Het
Dph5	A	C	3: 115,915,133	N155H	probably benign	Het
Dscam	T	C	16: 96,825,782		probably null	Het
Etl4	C	A	2: 20,805,571		probably benign	Het
Flt3l	T	C	7: 45,136,026	S9G	probably benign	Het
Fmnl2	A	G	2: 53,054,486	E159G	possibly damaging	Het
Fryl	A	G	5: 73,083,372	I1295T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gatad2b	T	A	3: 90,356,182	S529T	probably benign	Het
Herc6	G	A	6: 57,662,362	G905E	possibly damaging	Het
Hhip	T	A	8: 79,998,255	N296I	probably damaging	Het
Hmgcr	A	T	13: 96,650,643		probably benign	Het
Kalrn	T	G	16: 34,010,581	N723H	possibly damaging	Het
Mroh5	T	A	15: 73,790,739	Y242F	possibly damaging	Het
Msh3	T	A	13: 92,347,340	K258*	probably null	Het
Myo1a	T	C	10: 127,719,863		probably benign	Het
Nlrp4f	C	T	13: 65,194,503	E443K	probably benign	Het
Nupr1l	A	G	5: 129,908,692	Y34C	probably damaging	Het
Ociad1	T	C	5: 73,294,912		probably benign	Het
Olfr1469	A	T	19: 13,411,420	M284L	probably benign	Het
Olfr313	T	A	11: 58,817,751	L248M	probably damaging	Het
Olfr366	A	T	2: 37,220,196	K236*	probably null	Het
Olfr467	A	G	7: 107,815,124	D182G	probably damaging	Het
Olfr522	T	C	7: 140,162,089	N287S	probably damaging	Het
P2ry12	C	A	3: 59,217,487	V256F	probably damaging	Het
Pcdhb22	T	A	18: 37,518,851	I124N	probably damaging	Het
Pcnt	A	G	10: 76,420,541	F622L	probably damaging	Het
Pfas	A	T	11: 68,998,037	N361K	probably benign	Het
Plod2	T	G	9: 92,605,427	L600V	possibly damaging	Het
Pole	T	C	5: 110,298,988	Y631H	probably damaging	Het
Proser1	T	C	3: 53,478,776	L693P	probably damaging	Het
Ptprd	A	G	4: 75,957,239	Y1195H	probably damaging	Het
Rbm27	T	A	18: 42,326,026		probably null	Het
Ric8a	A	G	7: 140,857,973		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rimkla	C	T	4: 119,477,980	V69M	probably damaging	Het
Scfd1	A	T	12: 51,412,577	K307M	probably damaging	Het
Sh2b2	A	G	5: 136,232,263	F33S	probably damaging	Het
Smg7	T	G	1: 152,870,757		probably null	Het
Srebf1	T	C	11: 60,204,116	T486A	probably benign	Het
Strn3	G	A	12: 51,610,404	T642I	probably damaging	Het
Syne2	T	C	12: 75,982,063		probably null	Het
Syne3	A	G	12: 104,969,360	L53P	probably damaging	Het
Tcea1	T	A	1: 4,880,346		probably benign	Het
Tmem30b	T	C	12: 73,546,168	N58D	probably benign	Het
Tnpo1	A	G	13: 98,855,446	Y641H	probably damaging	Het
Trim25	A	T	11: 88,999,738	T84S	probably benign	Het
Trip4	A	T	9: 65,839,004	F537I	possibly damaging	Het
Uaca	G	A	9: 60,848,618		probably benign	Het
Ugt2b34	T	A	5: 86,892,899	Y388F	possibly damaging	Het
Vmn2r71	T	C	7: 85,619,432	V281A	probably benign	Het
Vps13d	A	T	4: 145,155,932	D1030E	probably damaging	Het
Vps8	C	A	16: 21,442,357	F82L	probably damaging	Het
Zfp296	A	G	7: 19,579,736	D172G	probably benign	Het
Zfp977	C	A	7: 42,580,534	C189F	probably damaging	Het

Other mutations in Acot11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Acot11	APN	4	106771484	missense	probably benign	0.00
IGL01896:Acot11	APN	4	106771367	missense	probably damaging	1.00
IGL02408:Acot11	APN	4	106758381	missense	probably damaging	1.00
IGL03053:Acot11	APN	4	106755853	nonsense	probably null
IGL03156:Acot11	APN	4	106754136	missense	probably damaging	1.00
R0266:Acot11	UTSW	4	106749988	missense	probably damaging	0.99
R0485:Acot11	UTSW	4	106762027	missense	probably damaging	1.00
R0537:Acot11	UTSW	4	106762455	missense	probably benign	0.10
R0969:Acot11	UTSW	4	106760080	critical splice donor site	probably null
R1109:Acot11	UTSW	4	106749348	missense	probably benign	0.01
R1785:Acot11	UTSW	4	106762035	missense	probably damaging	1.00
R1786:Acot11	UTSW	4	106762035	missense	probably damaging	1.00
R1965:Acot11	UTSW	4	106749353	missense	probably damaging	1.00
R2076:Acot11	UTSW	4	106770713	missense	probably damaging	0.99
R2509:Acot11	UTSW	4	106755319	missense	possibly damaging	0.90
R4558:Acot11	UTSW	4	106748366	missense	probably damaging	1.00
R4565:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R4567:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R4847:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R4881:Acot11	UTSW	4	106755305	critical splice donor site	probably null
R5234:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R5235:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R5409:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R5430:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R5518:Acot11	UTSW	4	106750010	missense	probably benign	0.24
R5763:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R5787:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R5788:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R5933:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R5934:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R6093:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R6104:Acot11	UTSW	4	106755897	missense	probably damaging	1.00
R6726:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R6727:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R6728:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R6734:Acot11	UTSW	4	106760130	missense	probably damaging	1.00
R7242:Acot11	UTSW	4	106762493	missense	probably benign	0.00
R7257:Acot11	UTSW	4	106758402	missense	probably damaging	1.00
R7360:Acot11	UTSW	4	106749351	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCTGAGAGCTGACACCAGCAAGAC -3'
(R):5'- GCCACTGGCTATAAGCTGAGCATAC -3'

Sequencing Primer
(F):5'- GACTCTCTCTTGCCAAGGAAAC -3'
(R):5'- CTGGCTATAAGCTGAGCATACTACAG -3'

Posted On

2013-07-30