Mutagenetix > Incidental Mutations

Incidental Mutation 'R3083:Acss3'

264073

Institutional Source

Beutler Lab

Gene Symbol

Acss3

Ensembl Gene

ENSMUSG00000035948

Gene Name

acyl-CoA synthetase short-chain family member 3

Synonyms

LOC380660, 8430416H19Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106933517-107123668 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107023715 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 341 (V341A)

Ref Sequence

ENSEMBL: ENSMUSP00000128209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044668] [ENSMUST00000165067]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044668
AA Change: V341A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: V341A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	112	496	4.6e-67	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165067
AA Change: V341A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: V341A

Domain	Start	End	E-Value	Type
Pfam:ACAS_N	57	111	8.8e-22	PFAM
Pfam:AMP-binding	113	557	3.2e-81	PFAM
Pfam:AMP-binding_C	565	644	2.2e-22	PFAM

Meta Mutation Damage Score

0.9067

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc2	T	C	10: 41,966,730	D359G	probably damaging	Het
Cdh6	T	C	15: 13,044,752	D428G	probably damaging	Het
Dennd4a	A	G	9: 64,906,081	N1441D	probably benign	Het
Fbln1	T	G	15: 85,265,253	I617S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gm15446	A	G	5: 109,943,292	N470S	possibly damaging	Het
Grin3a	G	A	4: 49,665,243	R1131W	probably benign	Het
Hist3h2ba	A	G	11: 58,948,976	K13E	probably benign	Het
Incenp	T	A	19: 9,883,779	M480L	unknown	Het
Lrp1b	A	T	2: 40,600,324	M275K	probably damaging	Het
Lrrc14b	C	T	13: 74,363,218	D248N	possibly damaging	Het
Nlrp5	T	C	7: 23,430,163	F885S	probably benign	Het
Olfr102	T	C	17: 37,314,195	N63S	probably damaging	Het
Olfr1228	A	C	2: 89,249,001	V231G	probably damaging	Het
Olfr917	A	G	9: 38,665,616	V76A	probably damaging	Het
Plcl2	T	A	17: 50,687,744	N1080K	probably benign	Het
Rab3gap2	T	A	1: 185,204,269	S10T	probably benign	Het
Rtca	G	A	3: 116,508,025		probably benign	Het
Scn1a	A	G	2: 66,299,637	F1278S	probably damaging	Het
Slitrk3	T	C	3: 73,048,595	D948G	probably benign	Het
Smu1	T	C	4: 40,745,567	D251G	probably damaging	Het
Ssh3	C	T	19: 4,262,559	R586H	probably benign	Het
Tomm40l	A	T	1: 171,221,211	L78H	probably damaging	Het
Vmn2r4	A	G	3: 64,389,367	S666P	probably damaging	Het

Other mutations in Acss3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Acss3	APN	10	106966026	missense	probably benign
IGL00941:Acss3	APN	10	107053326	critical splice donor site	probably null
IGL00983:Acss3	APN	10	106966964	nonsense	probably null
IGL01010:Acss3	APN	10	107023849	splice site	probably benign
IGL02227:Acss3	APN	10	107045335	missense	probably benign
IGL02296:Acss3	APN	10	107053451	nonsense	probably null
IGL02319:Acss3	APN	10	106948750	missense	probably damaging	0.99
IGL03181:Acss3	APN	10	107053388	missense	probably damaging	1.00
R0032:Acss3	UTSW	10	107123295	missense	probably benign	0.13
R0032:Acss3	UTSW	10	107123295	missense	probably benign	0.13
R0279:Acss3	UTSW	10	107084871	missense	possibly damaging	0.95
R0418:Acss3	UTSW	10	107023912	missense	probably damaging	0.99
R0550:Acss3	UTSW	10	107053471	missense	probably damaging	1.00
R1114:Acss3	UTSW	10	106988879	missense	possibly damaging	0.89
R1491:Acss3	UTSW	10	106937308	missense	probably benign
R1625:Acss3	UTSW	10	106937402	critical splice donor site	probably null
R1771:Acss3	UTSW	10	106937200	missense	probably damaging	1.00
R1956:Acss3	UTSW	10	106936168	missense	probably benign	0.00
R2006:Acss3	UTSW	10	106963010	missense	possibly damaging	0.81
R2018:Acss3	UTSW	10	106936207	missense	probably benign	0.00
R2019:Acss3	UTSW	10	106936207	missense	probably benign	0.00
R2078:Acss3	UTSW	10	106967041	missense	possibly damaging	0.94
R2253:Acss3	UTSW	10	107004748	missense	probably damaging	1.00
R2391:Acss3	UTSW	10	107123487	missense	probably benign	0.00
R3082:Acss3	UTSW	10	107023715	missense	possibly damaging	0.94
R4072:Acss3	UTSW	10	107123585	unclassified	probably benign
R4086:Acss3	UTSW	10	107053452	missense	probably damaging	1.00
R4087:Acss3	UTSW	10	107053452	missense	probably damaging	1.00
R4089:Acss3	UTSW	10	107053452	missense	probably damaging	1.00
R4090:Acss3	UTSW	10	107053452	missense	probably damaging	1.00
R4406:Acss3	UTSW	10	107053337	missense	probably damaging	1.00
R4607:Acss3	UTSW	10	106967029	missense	possibly damaging	0.88
R4608:Acss3	UTSW	10	106967029	missense	possibly damaging	0.88
R4790:Acss3	UTSW	10	107023702	nonsense	probably null
R4834:Acss3	UTSW	10	107084805	critical splice donor site	probably null
R5130:Acss3	UTSW	10	107004725	missense	possibly damaging	0.87
R5303:Acss3	UTSW	10	107084851	missense	possibly damaging	0.74
R5365:Acss3	UTSW	10	107004728	missense	probably damaging	1.00
R5439:Acss3	UTSW	10	106937147	nonsense	probably null
R5617:Acss3	UTSW	10	106951990	missense	probably damaging	1.00
R5698:Acss3	UTSW	10	106948744	missense	probably damaging	1.00
R5726:Acss3	UTSW	10	107123322	missense	possibly damaging	0.63
R6154:Acss3	UTSW	10	107123349	missense	probably benign	0.02
R6298:Acss3	UTSW	10	107084856	missense	probably damaging	1.00
R6592:Acss3	UTSW	10	107023718	missense	possibly damaging	0.94
R6707:Acss3	UTSW	10	107084922	missense	probably damaging	1.00
R6999:Acss3	UTSW	10	107053501	missense	probably damaging	1.00
R7567:Acss3	UTSW	10	107123313	missense	probably benign	0.00
R8351:Acss3	UTSW	10	107049404	missense	probably damaging	0.98
R8451:Acss3	UTSW	10	107049404	missense	probably damaging	0.98
R8515:Acss3	UTSW	10	106948663	missense	possibly damaging	0.51
X0027:Acss3	UTSW	10	107123344	missense	probably benign	0.05
Z1177:Acss3	UTSW	10	107004777	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAACGATGCTTCCTGTTGCC -3'
(R):5'- CCTCTCTTTAAGGGTGTGGTTAGAC -3'

Sequencing Primer
(F):5'- GCCATTCTTCCTTCACCGGTAC -3'
(R):5'- GTTGAACTGGACAATGTCTTCC -3'

Posted On

2015-02-05