Mutagenetix > Incidental Mutation

Incidental Mutation 'R4834:Acss3'

374510

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

041977-MU

Accession Numbers

Essential gene?

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

Stock #

R4834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106769378-106959529 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 106920666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128209 (fasta)

Gene Model

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

AlphaFold

Q14DH7

Predicted Effect

probably null
Transcript: ENSMUST00000044668

SMART Domains

Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948

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

Predicted Effect

probably null
Transcript: ENSMUST00000165067

SMART Domains

Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,343,787 (GRCm39)	D146A	possibly damaging	Het
Acsl5	C	A	19: 55,268,991 (GRCm39)	D217E	probably benign	Het
Adam24	G	A	8: 41,132,738 (GRCm39)	G69R	probably damaging	Het
Adgrg7	A	T	16: 56,553,232 (GRCm39)	W622R	probably damaging	Het
Ajm1	T	C	2: 25,469,530 (GRCm39)	E127G	possibly damaging	Het
Ankrd26	T	C	6: 118,500,679 (GRCm39)	M931V	probably benign	Het
Ano8	C	T	8: 71,936,939 (GRCm39)	V187M	probably damaging	Het
Ap3d1	A	T	10: 80,555,560 (GRCm39)	C348S	probably damaging	Het
Apob	T	C	12: 8,064,101 (GRCm39)	V376A	possibly damaging	Het
Arhgap21	A	T	2: 20,870,130 (GRCm39)	D925E	probably damaging	Het
Bmp6	T	A	13: 38,669,817 (GRCm39)	V367E	probably damaging	Het
Bmp8b	A	T	4: 123,016,843 (GRCm39)	Q348L	probably damaging	Het
Ccr1l1	T	C	9: 123,777,742 (GRCm39)	K235R	probably damaging	Het
Cd59a	G	A	2: 103,944,431 (GRCm39)	C93Y	probably damaging	Het
Clstn3	C	T	6: 124,408,912 (GRCm39)		probably null	Het
Col4a2	C	A	8: 11,456,836 (GRCm39)	Y236*	probably null	Het
Csn1s2a	T	C	5: 87,929,637 (GRCm39)	F79L	probably benign	Het
Cyp4a10	A	C	4: 115,383,005 (GRCm39)	Y360S	probably damaging	Het
Cyp4a29	A	T	4: 115,106,867 (GRCm39)	I175F	probably benign	Het
Dck	T	A	5: 88,920,595 (GRCm39)	I105N	probably damaging	Het
Dicer1	A	G	12: 104,662,850 (GRCm39)	L1577P	probably benign	Het
Disp2	G	A	2: 118,622,985 (GRCm39)	S1239N	probably benign	Het
Dop1b	T	C	16: 93,536,892 (GRCm39)	M1T	probably null	Het
E130308A19Rik	T	A	4: 59,690,317 (GRCm39)	C50*	probably null	Het
Elf2	A	T	3: 51,184,642 (GRCm39)	D14E	probably damaging	Het
Epm2aip1	C	T	9: 111,102,262 (GRCm39)	R412C	probably benign	Het
Foxm1	T	C	6: 128,346,410 (GRCm39)	F114L	probably damaging	Het
Glcci1	C	T	6: 8,582,601 (GRCm39)	R134*	probably null	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gspt1	T	C	16: 11,040,581 (GRCm39)	K576E	probably damaging	Het
H2-M10.3	T	C	17: 36,678,286 (GRCm39)	K180E	probably benign	Het
Hecw2	A	T	1: 53,869,911 (GRCm39)	V1439E	probably damaging	Het
Hr	T	C	14: 70,797,362 (GRCm39)	S561P	probably damaging	Het
Hunk	T	C	16: 90,293,086 (GRCm39)	V456A	probably benign	Het
Il1rap	T	A	16: 26,495,685 (GRCm39)	D97E	probably damaging	Het
Inpp5d	T	G	1: 87,625,245 (GRCm39)	V474G	possibly damaging	Het
Itsn1	T	A	16: 91,703,677 (GRCm39)	L87*	probably null	Het
Izumo3	T	C	4: 92,035,208 (GRCm39)	D3G	possibly damaging	Het
Kifc2	T	A	15: 76,545,511 (GRCm39)	M1K	probably null	Het
Krt8	T	A	15: 101,907,256 (GRCm39)	I276F	probably damaging	Het
Ksr2	C	A	5: 117,806,392 (GRCm39)	Q402K	probably benign	Het
Lama2	A	G	10: 26,882,745 (GRCm39)	V2606A	probably benign	Het
Met	A	G	6: 17,491,412 (GRCm39)	H58R	probably damaging	Het
Mier3	C	T	13: 111,851,643 (GRCm39)	Q542*	probably null	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Msl3l2	C	T	10: 55,991,655 (GRCm39)	R127C	probably damaging	Het
Naglu	T	C	11: 100,967,814 (GRCm39)	L588P	probably benign	Het
Nf1	T	C	11: 79,437,123 (GRCm39)	L2013P	probably damaging	Het
Nid1	A	G	13: 13,683,408 (GRCm39)	Y1162C	probably damaging	Het
Nlrc5	G	T	8: 95,232,113 (GRCm39)	R1313L	probably benign	Het
Nrg1	A	G	8: 32,407,747 (GRCm39)	V162A	probably benign	Het
Nup188	T	C	2: 30,229,596 (GRCm39)	L1310P	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or14a259	G	A	7: 86,012,952 (GRCm39)	L198F	probably benign	Het
Or4f6	A	G	2: 111,839,276 (GRCm39)	L85P	probably damaging	Het
Or5ae1	T	G	7: 84,565,491 (GRCm39)	F168C	probably damaging	Het
Pbk	T	A	14: 66,052,733 (GRCm39)	L192*	probably null	Het
Pcdhga4	T	C	18: 37,818,490 (GRCm39)	I13T	probably benign	Het
Peg10	A	T	6: 4,754,294 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,848,176 (GRCm39)	V261D	probably damaging	Het
Ppp2r5b	T	A	19: 6,280,540 (GRCm39)	T313S	possibly damaging	Het
Ptk2	A	T	15: 73,087,945 (GRCm39)		probably null	Het
Ptpn7	T	A	1: 135,065,618 (GRCm39)		probably null	Het
Rab11fip1	A	G	8: 27,643,111 (GRCm39)	S563P	probably damaging	Het
Scn1a	A	T	2: 66,158,866 (GRCm39)	C351*	probably null	Het
Slc10a5	A	T	3: 10,399,859 (GRCm39)	V267D	probably damaging	Het
Slc37a2	T	A	9: 37,146,404 (GRCm39)	M368L	probably damaging	Het
Slc49a4	T	A	16: 35,555,945 (GRCm39)	T172S	probably benign	Het
Slc6a20b	T	A	9: 123,425,113 (GRCm39)	T585S	probably benign	Het
Srcap	T	C	7: 127,156,782 (GRCm39)		probably null	Het
Tbx18	T	C	9: 87,609,502 (GRCm39)	M178V	possibly damaging	Het
Tmprss11b	C	A	5: 86,811,418 (GRCm39)	C172F	probably damaging	Het
Traf5	T	C	1: 191,751,198 (GRCm39)	Q91R	probably benign	Het
Trappc8	A	T	18: 20,958,122 (GRCm39)	Y1248N	probably damaging	Het
Trpa1	A	G	1: 14,966,747 (GRCm39)	L539S	possibly damaging	Het
Tyrp1	T	A	4: 80,764,833 (GRCm39)	Y3*	probably null	Het
Ubr7	A	T	12: 102,727,761 (GRCm39)	K94N	probably damaging	Het
Ugt2a1	C	A	5: 87,633,894 (GRCm39)		probably null	Het
Unc50	T	A	1: 37,471,710 (GRCm39)	I120K	probably damaging	Het
Usp28	T	C	9: 48,912,836 (GRCm39)	V29A	probably damaging	Het
Usp9y	A	G	Y: 1,317,002 (GRCm39)	I1849T	probably benign	Het
Vmn2r102	T	A	17: 19,898,203 (GRCm39)	V406E	probably damaging	Het
Vmn2r4	G	A	3: 64,317,484 (GRCm39)	R85W	probably benign	Het
Xirp2	A	G	2: 67,346,750 (GRCm39)	D2997G	probably benign	Het
Zc2hc1c	A	T	12: 85,336,982 (GRCm39)	E213V	probably damaging	Het
Zfp420	C	T	7: 29,573,759 (GRCm39)		probably benign	Het
Zfp641	C	T	15: 98,191,585 (GRCm39)	E34K	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
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
R6298:Acss3	UTSW	10	106,920,717 (GRCm39)	missense	probably damaging	1.00
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'- TGGCCACTTCTCCCAGTAAAAC -3'
(R):5'- TCTATGGCAGCAAGATACGG -3'

Sequencing Primer
(F):5'- CAGTAAAACAGGTACCTTTCAGTAC -3'
(R):5'- CAAGATACGGAGCAAAGTAGTTAAAG -3'

Posted On

2016-03-16