Mutagenetix > Incidental Mutations

Incidental Mutation 'R4117:Acss2'

315122

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

040991-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R4117 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155517948-155585724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155556393 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 358 (F358L)

Ref Sequence

ENSEMBL: ENSMUSP00000099431 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029135
AA Change: F345L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: F345L

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 damaging
Transcript: ENSMUST00000065973
AA Change: F345L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: F345L

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 damaging
Transcript: ENSMUST00000103142
AA Change: F358L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: F358L

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: 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

Meta Mutation Damage Score

0.8718

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (31/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	T	A	10: 22,067,716	N122Y	probably benign	Het
Adamts16	A	G	13: 70,767,992	Y775H	probably benign	Het
Bard1	A	T	1: 71,046,763	H594Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cenpt	G	A	8: 105,849,700	S73L	probably benign	Het
Ctdnep1	C	A	11: 69,988,671	A7D	probably damaging	Het
Fam210b	T	C	2: 172,351,566	S100P	probably benign	Het
Fyb	A	C	15: 6,630,116	D434A	probably damaging	Het
Gm11127	T	C	17: 36,057,604	D144G	probably damaging	Het
Gm11492	T	C	11: 87,568,282	F494S	probably damaging	Het
Heph	T	C	X: 96,500,615	V615A	probably benign	Het
Icam5	T	A	9: 21,037,590	V746E	probably damaging	Het
Maml2	A	G	9: 13,705,934	Q192R	probably damaging	Het
Npas4	T	C	19: 4,987,363	Y301C	probably damaging	Het
Nup205	C	T	6: 35,241,012	Q1767*	probably null	Het
Olfr561	T	A	7: 102,774,477		probably null	Het
Pigg	A	G	5: 108,348,042	R982G	probably benign	Het
Plekhg2	A	T	7: 28,360,888	H1005Q	probably benign	Het
Rdh12	C	T	12: 79,213,645	R172C	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Serpinb9	T	A	13: 33,015,596	D291E	probably benign	Het
She	A	T	3: 89,852,372	Y394F	probably damaging	Het
Sipa1l2	T	C	8: 125,468,510	S830G	probably damaging	Het
Stmn4	T	C	14: 66,361,132	*217Q	probably null	Het
Stx17	A	G	4: 48,180,689	D178G	probably damaging	Het
Tbc1d9	T	G	8: 83,266,147	I960S	possibly damaging	Het
Ubxn10	G	T	4: 138,720,965	D133E	probably benign	Het
Vmn2r42	T	C	7: 8,194,840	Y260C	probably damaging	Het
Vmn2r7	A	C	3: 64,715,717		probably benign	Het
Zfp143	C	T	7: 110,091,913	T557I	probably damaging	Het
Zfp607b	A	G	7: 27,698,682	I64V	probably damaging	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
R4515:Acss2	UTSW	2	155556363	missense	probably benign	0.39
R4756:Acss2	UTSW	2	155561143	missense	probably damaging	1.00
R4895:Acss2	UTSW	2	155550481	splice site	probably benign
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
Z1177:Acss2	UTSW	2	155517957	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTATGTGACATCAGGGTGTG -3'
(R):5'- AGCTTTGGGAAATGGTCACC -3'

Sequencing Primer
(F):5'- CAGATGCTGTGAAAGGGCATTG -3'
(R):5'- CCAGGAGAATTTTGTCTATGCCCAG -3'

Posted On

2015-05-14