Mutagenetix > Incidental Mutations

Incidental Mutation 'R4515:Acss2'

332833

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

041589-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155517948-155585724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 155556363 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 335 (L335I)

Ref Sequence

ENSEMBL: ENSMUSP00000029135 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029135
AA Change: L335I

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: L335I

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
AA Change: L335I

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: L335I

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
AA Change: L348I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: L348I

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

0.0960

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	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
R4117:Acss2	UTSW	2	155556393	missense	probably damaging	1.00
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
R8878:Acss2	UTSW	2	155556404	missense	probably benign	0.20
Z1177:Acss2	UTSW	2	155517957	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGTGACATCAGGGTGTGGTAAAG -3'
(R):5'- AGCTTTGGGAAATGGTCACCC -3'

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

Posted On

2015-08-18