Mutagenetix > Incidental Mutation

Incidental Mutation 'R6298:Acss3'

508915

Institutional Source

Beutler Lab

Gene Symbol

Acss3

Ensembl Gene

ENSMUSG00000035948

Gene Name

acyl-CoA synthetase short-chain family member 3

Synonyms

LOC380660, 8430416H19Rik

MMRRC Submission

044408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106769378-106959529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106920717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 131 (P131L)

Ref Sequence

ENSEMBL: ENSMUSP00000128209 (fasta)

Gene Model

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

AlphaFold

Q14DH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000044668
AA Change: P131L

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

SMART Domains

Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: P131L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165067
AA Change: P131L

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

SMART Domains

Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: P131L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,539,833 (GRCm39)	M733L	probably benign	Het
Adgrv1	T	A	13: 81,539,886 (GRCm39)	I5678F	probably benign	Het
Aff1	C	T	5: 103,902,586 (GRCm39)	L6F	possibly damaging	Het
Ank3	G	T	10: 69,686,006 (GRCm39)	R273L	probably damaging	Het
Anks1b	G	A	10: 90,516,699 (GRCm39)	G898D	probably damaging	Het
Anxa11	C	T	14: 25,873,158 (GRCm39)	P131S	unknown	Het
Ap4e1	T	A	2: 126,889,035 (GRCm39)	M500K	probably benign	Het
Bag3	T	C	7: 128,141,922 (GRCm39)	S138P	probably damaging	Het
Capn9	T	C	8: 125,344,193 (GRCm39)	V670A	probably benign	Het
Ccne2	T	A	4: 11,199,306 (GRCm39)	W236R	probably damaging	Het
Cdh23	A	T	10: 60,262,451 (GRCm39)	Y702*	probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cit	A	T	5: 116,086,124 (GRCm39)	E896V	probably damaging	Het
Cntln	T	A	4: 85,014,998 (GRCm39)	N1096K	probably damaging	Het
Cntnap5c	T	C	17: 58,411,747 (GRCm39)	C544R	probably damaging	Het
Csf1	A	T	3: 107,655,675 (GRCm39)	L452Q	possibly damaging	Het
Cts8	T	A	13: 61,397,037 (GRCm39)	K294N	possibly damaging	Het
Dcakd	T	G	11: 102,890,618 (GRCm39)	E56D	possibly damaging	Het
Dnah17	T	C	11: 117,998,987 (GRCm39)	I929V	probably benign	Het
Dnah2	G	T	11: 69,382,467 (GRCm39)	H1214Q	probably benign	Het
Dock9	T	C	14: 121,872,006 (GRCm39)	D536G	probably damaging	Het
Drc3	A	G	11: 60,284,596 (GRCm39)	N467S	possibly damaging	Het
Dysf	A	G	6: 84,084,118 (GRCm39)		probably null	Het
Ecpas	T	G	4: 58,877,157 (GRCm39)	T93P	probably damaging	Het
Evpl	A	T	11: 116,121,748 (GRCm39)	L378Q	probably damaging	Het
Fer1l4	A	T	2: 155,866,660 (GRCm39)	H1520Q	probably damaging	Het
Fhod1	A	T	8: 106,063,780 (GRCm39)		probably benign	Het
Gabra1	T	A	11: 42,073,205 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm14137	A	G	2: 119,005,572 (GRCm39)	T44A	possibly damaging	Het
H2bl1	T	A	13: 99,120,974 (GRCm39)	R17S	probably benign	Het
Herc2	T	C	7: 55,841,013 (GRCm39)	M3444T	probably benign	Het
Igsf5	T	C	16: 96,197,648 (GRCm39)	S208P	possibly damaging	Het
Ino80b	A	G	6: 83,102,066 (GRCm39)	L12P	possibly damaging	Het
Insrr	A	G	3: 87,720,272 (GRCm39)	D970G	probably damaging	Het
Iqcf4	G	A	9: 106,445,874 (GRCm39)	A91V	probably benign	Het
Itga10	A	G	3: 96,564,078 (GRCm39)	T911A	probably benign	Het
Katnip	T	C	7: 125,469,869 (GRCm39)	V1446A	probably benign	Het
Klhl30	A	T	1: 91,285,086 (GRCm39)	D314V	probably benign	Het
Lpcat1	T	C	13: 73,659,074 (GRCm39)	V330A	possibly damaging	Het
Myef2l	T	C	3: 10,154,239 (GRCm39)	I336T	probably damaging	Het
Nhlrc3	A	T	3: 53,359,944 (GRCm39)	D306E	possibly damaging	Het
Notum	T	A	11: 120,548,766 (GRCm39)	I187F	probably damaging	Het
Nphp3	T	C	9: 103,892,640 (GRCm39)	L288P	probably damaging	Het
Ntrk2	G	T	13: 59,019,570 (GRCm39)	E394*	probably null	Het
Or6k2	T	A	1: 173,979,748 (GRCm39)	V222D	probably benign	Het
Pbld2	A	G	10: 62,874,931 (GRCm39)	K63E	probably benign	Het
Phc2	T	C	4: 128,641,982 (GRCm39)	M768T	possibly damaging	Het
Pik3c2g	G	A	6: 139,603,561 (GRCm39)	C249Y	probably damaging	Het
Plod1	G	A	4: 148,000,772 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,172,772 (GRCm39)	T9S	probably benign	Het
Pnrc1	T	A	4: 33,246,315 (GRCm39)	M215L	probably benign	Het
Prcp	G	T	7: 92,577,841 (GRCm39)	C370F	probably damaging	Het
Pter	A	G	2: 12,983,205 (GRCm39)	N70S	probably damaging	Het
Ptprt	G	T	2: 161,395,779 (GRCm39)	H1131Q	probably damaging	Het
Rasal2	T	C	1: 157,239,432 (GRCm39)	D8G	possibly damaging	Het
Rcn2	A	C	9: 55,960,209 (GRCm39)	K159Q	probably benign	Het
Rex2	T	A	4: 147,141,972 (GRCm39)	C153*	probably null	Het
Rps6ka2	T	C	17: 7,437,766 (GRCm39)	F8S	possibly damaging	Het
Samd9l	A	G	6: 3,375,383 (GRCm39)	L626S	probably damaging	Het
Sptb	A	G	12: 76,667,428 (GRCm39)		probably null	Het
Srgap3	A	T	6: 112,793,571 (GRCm39)	V135D	probably damaging	Het
Srsf7	T	C	17: 80,514,682 (GRCm39)		probably benign	Het
Tacc2	A	G	7: 130,228,255 (GRCm39)	T1647A	probably benign	Het
Thap12	G	T	7: 98,352,612 (GRCm39)	A6S	probably damaging	Het
Tmem33	T	A	5: 67,425,894 (GRCm39)	L146*	probably null	Het
Trip13	C	A	13: 74,084,378 (GRCm39)	E36*	probably null	Het
Vkorc1l1	T	A	5: 129,971,079 (GRCm39)	C23S	probably damaging	Het
Vmn1r20	G	A	6: 57,409,112 (GRCm39)	R146H	probably benign	Het
Vmn1r222	T	A	13: 23,416,965 (GRCm39)	I83F	probably benign	Het
Vmn2r107	A	T	17: 20,576,044 (GRCm39)	I125F	probably benign	Het
Vmn2r116	A	G	17: 23,605,736 (GRCm39)	D216G	probably damaging	Het
Vwa3a	C	T	7: 120,394,874 (GRCm39)	T898I	probably benign	Het
Wdfy3	T	C	5: 102,116,812 (GRCm39)	D76G	probably damaging	Het
Wdhd1	T	C	14: 47,510,579 (GRCm39)	D148G	possibly damaging	Het
Xylt1	T	C	7: 117,255,960 (GRCm39)	I844T	probably damaging	Het
Zfp106	A	T	2: 120,353,185 (GRCm39)	V1535D	probably damaging	Het
Zfp385b	A	T	2: 77,244,323 (GRCm39)	L315Q	possibly damaging	Het
Zfp458	T	A	13: 67,404,870 (GRCm39)	H523L	probably damaging	Het
Zfp712	T	C	13: 67,189,393 (GRCm39)	H378R	probably damaging	Het
Zic1	T	C	9: 91,246,556 (GRCm39)	Y172C	probably damaging	Het

Other mutations in Acss3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Acss3	APN	10	106,801,887 (GRCm39)	missense	probably benign
IGL00941:Acss3	APN	10	106,889,187 (GRCm39)	critical splice donor site	probably null
IGL00983:Acss3	APN	10	106,802,825 (GRCm39)	nonsense	probably null
IGL01010:Acss3	APN	10	106,859,710 (GRCm39)	splice site	probably benign
IGL02227:Acss3	APN	10	106,881,196 (GRCm39)	missense	probably benign
IGL02296:Acss3	APN	10	106,889,312 (GRCm39)	nonsense	probably null
IGL02319:Acss3	APN	10	106,784,611 (GRCm39)	missense	probably damaging	0.99
IGL03181:Acss3	APN	10	106,889,249 (GRCm39)	missense	probably damaging	1.00
R0032:Acss3	UTSW	10	106,959,156 (GRCm39)	missense	probably benign	0.13
R0032:Acss3	UTSW	10	106,959,156 (GRCm39)	missense	probably benign	0.13
R0279:Acss3	UTSW	10	106,920,732 (GRCm39)	missense	possibly damaging	0.95
R0418:Acss3	UTSW	10	106,859,773 (GRCm39)	missense	probably damaging	0.99
R0550:Acss3	UTSW	10	106,889,332 (GRCm39)	missense	probably damaging	1.00
R1114:Acss3	UTSW	10	106,824,740 (GRCm39)	missense	possibly damaging	0.89
R1491:Acss3	UTSW	10	106,773,169 (GRCm39)	missense	probably benign
R1625:Acss3	UTSW	10	106,773,263 (GRCm39)	critical splice donor site	probably null
R1771:Acss3	UTSW	10	106,773,061 (GRCm39)	missense	probably damaging	1.00
R1956:Acss3	UTSW	10	106,772,029 (GRCm39)	missense	probably benign	0.00
R2006:Acss3	UTSW	10	106,798,871 (GRCm39)	missense	possibly damaging	0.81
R2018:Acss3	UTSW	10	106,772,068 (GRCm39)	missense	probably benign	0.00
R2019:Acss3	UTSW	10	106,772,068 (GRCm39)	missense	probably benign	0.00
R2078:Acss3	UTSW	10	106,802,902 (GRCm39)	missense	possibly damaging	0.94
R2253:Acss3	UTSW	10	106,840,609 (GRCm39)	missense	probably damaging	1.00
R2391:Acss3	UTSW	10	106,959,348 (GRCm39)	missense	probably benign	0.00
R3082:Acss3	UTSW	10	106,859,576 (GRCm39)	missense	possibly damaging	0.94
R3083:Acss3	UTSW	10	106,859,576 (GRCm39)	missense	possibly damaging	0.94
R4072:Acss3	UTSW	10	106,959,446 (GRCm39)	unclassified	probably benign
R4086:Acss3	UTSW	10	106,889,313 (GRCm39)	missense	probably damaging	1.00
R4087:Acss3	UTSW	10	106,889,313 (GRCm39)	missense	probably damaging	1.00
R4089:Acss3	UTSW	10	106,889,313 (GRCm39)	missense	probably damaging	1.00
R4090:Acss3	UTSW	10	106,889,313 (GRCm39)	missense	probably damaging	1.00
R4406:Acss3	UTSW	10	106,889,198 (GRCm39)	missense	probably damaging	1.00
R4607:Acss3	UTSW	10	106,802,890 (GRCm39)	missense	possibly damaging	0.88
R4608:Acss3	UTSW	10	106,802,890 (GRCm39)	missense	possibly damaging	0.88
R4790:Acss3	UTSW	10	106,859,563 (GRCm39)	nonsense	probably null
R4834:Acss3	UTSW	10	106,920,666 (GRCm39)	critical splice donor site	probably null
R5130:Acss3	UTSW	10	106,840,586 (GRCm39)	missense	possibly damaging	0.87
R5303:Acss3	UTSW	10	106,920,712 (GRCm39)	missense	possibly damaging	0.74
R5365:Acss3	UTSW	10	106,840,589 (GRCm39)	missense	probably damaging	1.00
R5439:Acss3	UTSW	10	106,773,008 (GRCm39)	nonsense	probably null
R5617:Acss3	UTSW	10	106,787,851 (GRCm39)	missense	probably damaging	1.00
R5698:Acss3	UTSW	10	106,784,605 (GRCm39)	missense	probably damaging	1.00
R5726:Acss3	UTSW	10	106,959,183 (GRCm39)	missense	possibly damaging	0.63
R6154:Acss3	UTSW	10	106,959,210 (GRCm39)	missense	probably benign	0.02
R6592:Acss3	UTSW	10	106,859,579 (GRCm39)	missense	possibly damaging	0.94
R6707:Acss3	UTSW	10	106,920,783 (GRCm39)	missense	probably damaging	1.00
R6999:Acss3	UTSW	10	106,889,362 (GRCm39)	missense	probably damaging	1.00
R7567:Acss3	UTSW	10	106,959,174 (GRCm39)	missense	probably benign	0.00
R8351:Acss3	UTSW	10	106,885,265 (GRCm39)	missense	probably damaging	0.98
R8451:Acss3	UTSW	10	106,885,265 (GRCm39)	missense	probably damaging	0.98
R8515:Acss3	UTSW	10	106,784,524 (GRCm39)	missense	possibly damaging	0.51
R8917:Acss3	UTSW	10	106,773,124 (GRCm39)	missense	probably benign
R8972:Acss3	UTSW	10	106,920,783 (GRCm39)	missense	probably damaging	1.00
R9308:Acss3	UTSW	10	106,959,282 (GRCm39)	missense	possibly damaging	0.93
R9387:Acss3	UTSW	10	106,959,255 (GRCm39)	missense	probably damaging	0.99
R9801:Acss3	UTSW	10	106,881,091 (GRCm39)	missense	possibly damaging	0.85
X0027:Acss3	UTSW	10	106,959,205 (GRCm39)	missense	probably benign	0.05
Z1177:Acss3	UTSW	10	106,840,638 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGCCTGGATATCAGTGATAAC -3'
(R):5'- TTCTGTAGCCAACACTGTCCTAAG -3'

Sequencing Primer
(F):5'- CTCTATAATAACCAAGAGAGAGAGA -3'
(R):5'- CTGTCCTAAGGAAATCTATGGCAGC -3'

Posted On

2018-04-02