Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01330:Acot11'

74475

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acot11

Ensembl Gene

ENSMUSG00000034853

Gene Name

acyl-CoA thioesterase 11

Synonyms

Thea, Them1, 2010309H15Rik, 1110020M10Rik, BFIT1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL01330

Quality Score

Status

Chromosome

Chromosomal Location

106744555-106804998 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106771484 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 36 (T36A)

Ref Sequence

ENSEMBL: ENSMUSP00000123942 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065253
AA Change: T56A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
AA Change: T56A

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 benign
Transcript: ENSMUST00000102762
AA Change: T36A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
AA Change: T36A

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

noncoding transcript
Transcript: ENSMUST00000121767

Predicted Effect

probably benign
Transcript: ENSMUST00000140541
AA Change: T25A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124567
Gene: ENSMUSG00000034853
AA Change: T25A

Domain	Start	End	E-Value	Type
PDB:3B7K\|C	32	71	3e-10	PDB
SCOP:d1lo7a_	37	69	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145061
AA Change: T21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125123
Gene: ENSMUSG00000034853
AA Change: T21A

Domain	Start	End	E-Value	Type
Pfam:4HBT	49	107	4.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148688
AA Change: T21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124385
Gene: ENSMUSG00000034853
AA Change: T21A

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
AA Change: T36A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123942
Gene: ENSMUSG00000034853
AA Change: T36A

Domain	Start	End	E-Value	Type
PDB:3B7K\|C	43	89	8e-11	PDB
SCOP:d1lo7a_	48	80	2e-3	SMART

Coding Region Coverage

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
A1cf	A	G	19: 31,920,951	E245G	possibly damaging	Het
Acap2	T	C	16: 31,154,677	I43V	probably damaging	Het
Bsn	A	G	9: 108,110,913		probably benign	Het
Capza2	T	C	6: 17,654,171		probably null	Het
Cerkl	A	G	2: 79,368,781	I155T	possibly damaging	Het
Dclre1b	T	C	3: 103,803,126	T490A	probably benign	Het
Efcab6	G	A	15: 84,044,300	S31L	probably benign	Het
Faim	T	A	9: 98,992,535	M67K	probably damaging	Het
Frem2	T	G	3: 53,655,241	Q615P	possibly damaging	Het
Fut9	A	G	4: 25,619,791	V341A	possibly damaging	Het
Grhpr	T	C	4: 44,986,375	F142L	probably benign	Het
Kif14	T	C	1: 136,476,374	V532A	probably damaging	Het
Klk1b9	T	A	7: 43,978,443	L55*	probably null	Het
Kmt2e	C	A	5: 23,497,948	P1042Q	possibly damaging	Het
Mpped1	T	A	15: 83,800,119	I114N	probably damaging	Het
Mtap	C	A	4: 89,171,223	T148K	probably damaging	Het
Muc16	G	A	9: 18,508,507	A8347V	possibly damaging	Het
Nhs	A	T	X: 161,841,453	S967T	probably damaging	Het
Npas3	A	G	12: 54,048,819	Y344C	probably damaging	Het
Olfr1431	T	C	19: 12,210,040	V158A	possibly damaging	Het
Olfr635	A	T	7: 103,980,142		probably benign	Het
Olfr876	T	A	9: 37,804,220	F103Y	probably damaging	Het
Osmr	A	G	15: 6,842,028	Y303H	probably damaging	Het
Pcdhb8	A	T	18: 37,357,578	I770F	probably benign	Het
Pde4a	C	T	9: 21,192,438		probably benign	Het
Prkacb	T	G	3: 146,751,511	N79T	probably damaging	Het
Psd3	A	C	8: 67,697,178	Y1222D	probably damaging	Het
Rrbp1	T	A	2: 143,968,618	E847D	possibly damaging	Het
Sbno1	A	T	5: 124,391,979	D912E	probably damaging	Het
Sgsm3	T	A	15: 81,010,852		probably benign	Het
Shcbp1	T	C	8: 4,736,372	T577A	probably benign	Het
Siglec1	A	T	2: 131,083,536	V335D	probably damaging	Het
Siglec1	A	T	2: 131,075,005	L1110*	probably null	Het
Slc4a11	A	G	2: 130,687,682	I335T	probably benign	Het
Smchd1	A	C	17: 71,436,788	S461A	probably benign	Het
Spata16	C	T	3: 26,914,715	P415S	probably damaging	Het
Tdrd12	G	A	7: 35,505,034	S217L	possibly damaging	Het
Tmem156	C	T	5: 65,080,182	R45H	probably benign	Het
Vmn2r90	T	C	17: 17,733,280	S569P	probably benign	Het
Vps13c	T	A	9: 67,964,108	V3220E	probably damaging	Het
Wdr59	T	C	8: 111,481,933	N439S	possibly damaging	Het
Zfp568	A	G	7: 30,022,277	M215V	probably benign	Het
Zgrf1	T	A	3: 127,584,007	V967E	probably damaging	Het
Zkscan16	A	G	4: 58,956,483	D255G	possibly damaging	Het

Other mutations in Acot11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0707:Acot11	UTSW	4	106760132	missense	probably damaging	1.00
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
R8125:Acot11	UTSW	4	106760080	critical splice donor site	probably null
R8393:Acot11	UTSW	4	106760193	missense	probably benign	0.23

Posted On

2013-10-07