Mutagenetix > Incidental Mutation

Incidental Mutation 'R4895:Acss2'

377547

Institutional Source

Beutler Lab

Gene Symbol

Acss2

Ensembl Gene

ENSMUSG00000027605

Gene Name

acyl-CoA synthetase short-chain family member 2

Synonyms

Acas1, acetyl-CoA synthetase 1, Acas2, AceCS1, ACAS, Acs1

MMRRC Submission

042499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R4895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155517948-155585724 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 155550481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029135] [ENSMUST00000065973] [ENSMUST00000103142] [ENSMUST00000133654]

AlphaFold

Q9QXG4

Predicted Effect

probably benign
Transcript: ENSMUST00000029135

SMART Domains

Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	108	575	1.9e-96	PFAM
Pfam:AMP-binding_C	583	661	2.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065973

SMART Domains

Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	108	575	4.8e-98	PFAM
Pfam:AMP-binding_C	583	660	3.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103142

SMART Domains

Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605

Domain	Start	End	E-Value	Type
Pfam:ACAS_N	47	107	8.1e-21	PFAM
Pfam:AMP-binding	108	588	4.7e-97	PFAM
Pfam:AMP-binding_C	596	674	1.3e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131054

Predicted Effect

probably benign
Transcript: ENSMUST00000133654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148685

Predicted Effect

probably benign
Transcript: ENSMUST00000151781

SMART Domains

Protein: ENSMUSP00000122545
Gene: ENSMUSG00000027605

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	1	187	1.2e-32	PFAM
Pfam:AMP-binding	187	292	1.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175715

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,613,070		probably benign	Het
Abat	G	A	16: 8,615,962	A392T	probably benign	Het
Abca14	G	A	7: 120,247,349		probably null	Het
Abcc6	A	T	7: 45,980,990	L1282Q	possibly damaging	Het
Adgrf1	G	T	17: 43,310,620	V583L	probably benign	Het
Aftph	T	C	11: 20,696,801	D825G	probably damaging	Het
Ahnak	T	C	19: 9,017,441	V5363A	probably benign	Het
Apba3	G	A	10: 81,271,283		probably null	Het
Asb13	T	C	13: 3,643,589	Y116H	probably damaging	Het
Asb4	C	A	6: 5,398,266	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,414,369	H223Q	probably benign	Het
Best1	A	G	19: 9,992,771	L159P	probably benign	Het
Cacna1h	A	T	17: 25,389,422	M731K	probably damaging	Het
Catspere1	T	A	1: 177,859,861		noncoding transcript	Het
Cenpv	A	T	11: 62,527,520	Y202*	probably null	Het
Cep57	A	T	9: 13,816,153		probably benign	Het
Cfap100	T	A	6: 90,406,102	D363V	possibly damaging	Het
Cluh	A	G	11: 74,667,405	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,663,110		probably null	Het
Dnajc11	T	C	4: 151,979,933	F514L	probably damaging	Het
Efcab3	T	A	11: 105,117,401		probably benign	Het
Eif2b4	T	G	5: 31,192,954	Q8P	probably benign	Het
Epha6	A	T	16: 59,666,555	V1043E	probably benign	Het
Gm11562	G	T	11: 99,620,315	Q20K	unknown	Het
Gm11639	C	T	11: 104,720,286	T318I	probably benign	Het
Gm11639	A	G	11: 104,749,670	D1026G	probably damaging	Het
Gm13762	A	T	2: 88,973,711	F60Y	probably benign	Het
Gm14415	A	T	2: 177,104,321		noncoding transcript	Het
Gm5431	A	G	11: 48,889,028	S634P	probably damaging	Het
Gpld1	C	A	13: 24,979,728	N501K	probably damaging	Het
Gsn	C	T	2: 35,302,578	R513C	probably damaging	Het
Gulp1	T	C	1: 44,788,597	F300L	probably benign	Het
H2afj	T	C	6: 136,808,662	V108A	possibly damaging	Het
Haus3	T	C	5: 34,168,070	R82G	probably benign	Het
Herc2	G	A	7: 56,222,986	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,677,379	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,465,253	I53V	probably benign	Het
Inpp5e	C	T	2: 26,397,912	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367	C491*	probably null	Het
Itpkb	C	A	1: 180,413,895	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,928,416		probably null	Het
Kmt2d	T	C	15: 98,844,487		probably benign	Het
Lamb3	C	T	1: 193,332,314	R594*	probably null	Het
Map3k20	A	G	2: 72,402,356		probably benign	Het
Maz	A	T	7: 127,025,300		probably null	Het
Mtr	T	C	13: 12,216,866	T651A	probably benign	Het
Nbeal1	A	G	1: 60,292,903	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,469,896	Y61H	probably damaging	Het
Npat	T	A	9: 53,570,489	L1166M	probably damaging	Het
Olfr1112	A	C	2: 87,191,848	I54L	probably benign	Het
Olfr1447	C	T	19: 12,900,887	V298M	probably damaging	Het
Olfr190	C	T	16: 59,074,657	C141Y	probably benign	Het
Olfr490	A	C	7: 108,286,595	I177S	probably damaging	Het
Olfr988	A	T	2: 85,352,997	*310K	probably null	Het
Pcdhb3	T	C	18: 37,301,706	F242L	probably damaging	Het
Phip	A	G	9: 82,959,595	V57A	probably benign	Het
Plekha7	A	T	7: 116,189,391		probably null	Het
Pot1a	A	C	6: 25,753,206	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,784,352	P217L	probably damaging	Het
Prepl	A	G	17: 85,081,066	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,575,530	I175V	probably benign	Het
Ranbp6	A	T	19: 29,809,775	I1059N	possibly damaging	Het
Rhag	A	G	17: 40,811,351	Q59R	probably benign	Het
Sema4c	A	C	1: 36,553,570		probably null	Het
Sf3b3	T	C	8: 110,816,024	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,198,857		probably null	Het
Tbrg1	A	T	9: 37,655,079	I54N	probably damaging	Het
Tchh	A	T	3: 93,445,686	E811V	unknown	Het
Tenm3	T	A	8: 48,300,971	D799V	probably damaging	Het
Tlr5	T	C	1: 182,974,199	L342P	probably damaging	Het
Tppp	C	T	13: 74,030,877	R146*	probably null	Het
Trpm4	A	T	7: 45,318,058	M574K	probably damaging	Het
Uggt1	A	T	1: 36,156,264	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,018,886	K1124N	probably damaging	Het
Usf3	A	C	16: 44,221,096	S1980R	possibly damaging	Het
Vav2	T	C	2: 27,318,961	D100G	probably damaging	Het
Vmn2r3	G	T	3: 64,259,761	H650N	probably benign	Het
Vmn2r59	T	A	7: 42,045,794	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,537,972	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,826,435	R235*	probably null	Het

Other mutations in Acss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Acss2	APN	2	155562037	missense	possibly damaging	0.83
IGL02333:Acss2	APN	2	155555884	missense	probably damaging	1.00
IGL03278:Acss2	APN	2	155562001	missense	possibly damaging	0.64
IGL03392:Acss2	APN	2	155562011	missense	probably damaging	1.00
BB009:Acss2	UTSW	2	155573180	missense	unknown
BB019:Acss2	UTSW	2	155573180	missense	unknown
R1159:Acss2	UTSW	2	155551218	missense	probably benign
R1293:Acss2	UTSW	2	155551221	missense	probably benign
R1639:Acss2	UTSW	2	155556908	missense	probably benign	0.01
R1725:Acss2	UTSW	2	155556844	missense	possibly damaging	0.56
R1834:Acss2	UTSW	2	155558630	missense	probably damaging	1.00
R1835:Acss2	UTSW	2	155558630	missense	probably damaging	1.00
R1836:Acss2	UTSW	2	155558630	missense	probably damaging	1.00
R2361:Acss2	UTSW	2	155558669	missense	probably damaging	0.98
R3899:Acss2	UTSW	2	155557237	splice site	probably benign
R4008:Acss2	UTSW	2	155557628	missense	probably damaging	1.00
R4009:Acss2	UTSW	2	155557628	missense	probably damaging	1.00
R4010:Acss2	UTSW	2	155557628	missense	probably damaging	1.00
R4011:Acss2	UTSW	2	155557628	missense	probably damaging	1.00
R4031:Acss2	UTSW	2	155557210	missense	probably damaging	1.00
R4117:Acss2	UTSW	2	155556393	missense	probably damaging	1.00
R4515:Acss2	UTSW	2	155556363	missense	probably benign	0.39
R4756:Acss2	UTSW	2	155561143	missense	probably damaging	1.00
R5327:Acss2	UTSW	2	155573229	missense	probably null
R5654:Acss2	UTSW	2	155574655	unclassified	probably benign
R5717:Acss2	UTSW	2	155561153	missense	probably damaging	1.00
R5743:Acss2	UTSW	2	155574616	unclassified	probably benign
R5773:Acss2	UTSW	2	155574694	splice site	probably null
R5825:Acss2	UTSW	2	155549178	splice site	probably null
R5979:Acss2	UTSW	2	155522109	missense	possibly damaging	0.75
R6525:Acss2	UTSW	2	155550417	missense	probably benign
R6551:Acss2	UTSW	2	155551208	missense	probably benign
R6785:Acss2	UTSW	2	155560685	missense	probably damaging	1.00
R6976:Acss2	UTSW	2	155556009	splice site	probably null
R7074:Acss2	UTSW	2	155522041	missense	possibly damaging	0.94
R7372:Acss2	UTSW	2	155557180	missense	probably damaging	0.99
R7448:Acss2	UTSW	2	155518266	missense	probably damaging	1.00
R7528:Acss2	UTSW	2	155557146	missense	probably damaging	1.00
R7541:Acss2	UTSW	2	155574690	critical splice donor site	probably null
R7543:Acss2	UTSW	2	155549835	missense	probably damaging	0.98
R7754:Acss2	UTSW	2	155561166	missense	probably benign	0.00
R7846:Acss2	UTSW	2	155561033	missense	probably damaging	1.00
R7932:Acss2	UTSW	2	155573180	missense	unknown
R8011:Acss2	UTSW	2	155555957	missense	possibly damaging	0.73
R8424:Acss2	UTSW	2	155574618	missense	unknown
R8481:Acss2	UTSW	2	155556461	nonsense	probably null
R8878:Acss2	UTSW	2	155556404	missense	probably benign	0.20
R8956:Acss2	UTSW	2	155549518	missense	probably damaging	1.00
R9463:Acss2	UTSW	2	155550112	missense	probably benign	0.23
R9545:Acss2	UTSW	2	155561796	missense	probably damaging	1.00
Z1177:Acss2	UTSW	2	155517957	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGGCCAATACTTCAGCATTTC -3'
(R):5'- GTGCATGTCAACCTTCACAGC -3'

Sequencing Primer
(F):5'- GGCCAATACTTCAGCATTTCCTTTTC -3'
(R):5'- TTTCAGGCTAAATTCCTAAAGCCC -3'

Posted On

2016-03-17