Mutagenetix > Incidental Mutation

Incidental Mutation 'R9404:Acot11'

711390

Institutional Source

Beutler Lab

Gene Symbol

Acot11

Ensembl Gene

ENSMUSG00000034853

Gene Name

acyl-CoA thioesterase 11

Synonyms

2010309H15Rik, Thea, 1110020M10Rik, Them1, BFIT1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R9404 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106601752-106662195 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106615509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 314 (K314R)

Ref Sequence

ENSEMBL: ENSMUSP00000069636 (fasta)

Gene Model

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

AlphaFold

Q8VHQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065253
AA Change: K314R

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
AA Change: K314R

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

possibly damaging
Transcript: ENSMUST00000102762
AA Change: K294R

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
AA Change: K294R

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,005,064 (GRCm39)	V1167A	probably damaging	Het
Bbs12	T	C	3: 37,373,557 (GRCm39)	S2P	probably damaging	Het
Cdh11	A	T	8: 103,406,254 (GRCm39)	L73Q	probably damaging	Het
Cdk15	A	G	1: 59,328,914 (GRCm39)	E274G	possibly damaging	Het
Col27a1	T	C	4: 63,194,178 (GRCm39)	V845A	possibly damaging	Het
Cyp3a11	T	C	5: 145,799,258 (GRCm39)	T310A	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ewsr1	A	G	11: 5,022,940 (GRCm39)	M388T	unknown	Het
Fat2	A	G	11: 55,144,348 (GRCm39)		probably null	Het
Gm8225	T	A	17: 26,762,034 (GRCm39)	I75N	probably damaging	Het
Gsap	A	G	5: 21,474,919 (GRCm39)	Y526C	probably damaging	Het
Hk1	T	A	10: 62,131,859 (GRCm39)	I203F	possibly damaging	Het
Insl5	T	C	4: 102,875,535 (GRCm39)	R72G	probably benign	Het
Iqcb1	T	C	16: 36,671,632 (GRCm39)	V321A	probably damaging	Het
Iqcd	A	C	5: 120,738,601 (GRCm39)	T140P		Het
Kcnt2	T	A	1: 140,353,107 (GRCm39)	I272K	probably damaging	Het
Klhl25	A	C	7: 75,515,153 (GRCm39)	I20L	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	C	3: 86,205,224 (GRCm39)	V356A	probably damaging	Het
Mast4	A	G	13: 102,887,933 (GRCm39)	Y1159H	probably damaging	Het
Mavs	T	A	2: 131,083,818 (GRCm39)	L105Q	probably damaging	Het
Megf6	T	A	4: 154,348,225 (GRCm39)	C902S		Het
Mmp17	A	G	5: 129,682,741 (GRCm39)	D460G	possibly damaging	Het
Myh2	G	T	11: 67,070,454 (GRCm39)	A466S	probably damaging	Het
Neb	T	C	2: 52,147,788 (GRCm39)	N2744D	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or13a26	T	A	7: 140,284,722 (GRCm39)	L186H	probably damaging	Het
Or2a12	T	C	6: 42,904,750 (GRCm39)	V195A	probably benign	Het
Or2aj4	C	T	16: 19,384,731 (GRCm39)	V301M	probably benign	Het
Or4a27	T	A	2: 88,559,551 (GRCm39)	M131L	probably benign	Het
Or6d13	T	G	6: 116,517,708 (GRCm39)	I98S	probably damaging	Het
Or8g55	A	T	9: 39,784,708 (GRCm39)	I46F	possibly damaging	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Pax5	G	A	4: 44,645,565 (GRCm39)	P255S	possibly damaging	Het
Pcdhga2	A	G	18: 37,803,067 (GRCm39)	T304A	probably benign	Het
Pcsk1	T	G	13: 75,280,342 (GRCm39)	S722R	probably benign	Het
Pcsk9	C	A	4: 106,311,723 (GRCm39)	R218L	probably damaging	Het
Pds5a	T	A	5: 65,776,307 (GRCm39)	I96F	probably damaging	Het
Pkdrej	C	A	15: 85,703,270 (GRCm39)	V889L	probably benign	Het
Plekhh2	A	T	17: 84,878,468 (GRCm39)		probably null	Het
Pnn	A	G	12: 59,118,758 (GRCm39)	E447G	probably damaging	Het
Ppp2r3d	A	G	9: 101,025,840 (GRCm39)	L289P	probably damaging	Het
Ppp6r2	A	G	15: 89,152,753 (GRCm39)	H298R	probably benign	Het
Ptpn23	T	C	9: 110,216,025 (GRCm39)	N1277S		Het
Pus10	T	A	11: 23,661,202 (GRCm39)	F263L	possibly damaging	Het
Rexo5	A	G	7: 119,400,542 (GRCm39)	Y109C	probably damaging	Het
Rnf185	A	T	11: 3,382,615 (GRCm39)	C23*	probably null	Het
Runx1	T	C	16: 92,485,915 (GRCm39)	N140D	probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn9a	G	A	2: 66,357,040 (GRCm39)	T1087I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	TC	TCAGCCACGGGGACCAGCCC	7: 126,066,771 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,335,488 (GRCm39)	H350R	possibly damaging	Het
Spaca6	T	C	17: 18,057,800 (GRCm39)	C155R	probably damaging	Het
Spire2	C	T	8: 124,090,077 (GRCm39)	R580*	probably null	Het
Srgap3	A	T	6: 112,706,616 (GRCm39)	M851K	probably benign	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tlcd4	T	C	3: 121,028,731 (GRCm39)	N52S	probably benign	Het
Trak2	T	C	1: 58,960,296 (GRCm39)	T236A	possibly damaging	Het
Trrap	T	C	5: 144,752,225 (GRCm39)	C1709R	possibly damaging	Het
Ttn	A	T	2: 76,584,500 (GRCm39)	S22203T	probably damaging	Het
Tut7	A	T	13: 59,947,701 (GRCm39)	N873K	probably benign	Het
Ube3a	A	G	7: 58,936,763 (GRCm39)	T701A	probably damaging	Het
Ufl1	T	C	4: 25,275,912 (GRCm39)	I164V	probably benign	Het
Vcpip1	T	C	1: 9,817,856 (GRCm39)	T176A	probably damaging	Het
Virma	T	A	4: 11,513,626 (GRCm39)	D493E	probably benign	Het
Vmn2r77	T	A	7: 86,451,247 (GRCm39)	W378R	probably benign	Het
Vps13b	A	T	15: 35,876,565 (GRCm39)	T2799S	probably damaging	Het
Vps8	T	C	16: 21,426,927 (GRCm39)	S1337P	probably benign	Het
Zfp235	A	T	7: 23,839,862 (GRCm39)	I94F	possibly damaging	Het
Zfp3	A	G	11: 70,663,366 (GRCm39)	K442E	probably damaging	Het
Zfp418	A	T	7: 7,185,104 (GRCm39)	I356F	possibly damaging	Het
Zfp790	G	A	7: 29,525,185 (GRCm39)	G68S	probably benign	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
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
R9633:Acot11	UTSW	4	106,613,178 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGGACAATAGTGGGAGTC -3'
(R):5'- AGATGGGTTACGGGCTAGGTAC -3'

Sequencing Primer
(F):5'- TAGTGGGAGTCATAGAACATTCC -3'
(R):5'- TAGGTACTAGAGAGCGCTGGC -3'

Posted On

2022-05-16