Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Acss3'

45100

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

038742-MU

Accession Numbers

Essential gene?

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

Stock #

R0550 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106769378-106959529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106889332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 163 (G163C)

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: G163C

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

SMART Domains

Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: G163C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165067
AA Change: G163C

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

SMART Domains

Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: G163C

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

0.9673

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,666 (GRCm39)	Y947N	probably damaging	Het
Adcy10	A	G	1: 165,392,884 (GRCm39)	T1367A	probably benign	Het
Adcy2	A	T	13: 69,130,480 (GRCm39)	S136T	probably benign	Het
Ahdc1	G	A	4: 132,790,348 (GRCm39)	V530I	probably benign	Het
Aldh16a1	C	T	7: 44,795,653 (GRCm39)		probably null	Het
Ankrd36	T	C	11: 5,557,429 (GRCm39)		probably null	Het
Aqr	A	C	2: 113,963,457 (GRCm39)	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,683,173 (GRCm39)		probably benign	Het
Atp8b2	C	T	3: 89,866,368 (GRCm39)		probably benign	Het
Bbx	T	C	16: 50,094,896 (GRCm39)		probably benign	Het
Bmper	T	A	9: 23,285,181 (GRCm39)	D243E	probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 149,036,741 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,970,427 (GRCm39)		probably null	Het
Ccdc92b	T	A	11: 74,520,771 (GRCm39)		probably null	Het
Cd2bp2	G	T	7: 126,792,996 (GRCm39)	T342K	probably damaging	Het
Clrn3	T	A	7: 135,130,154 (GRCm39)	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,234,042 (GRCm39)		probably null	Het
Cntnap3	T	C	13: 64,909,814 (GRCm39)	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,308 (GRCm39)	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,941,457 (GRCm39)	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753 (GRCm39)	S389P	probably benign	Het
Ddx18	T	C	1: 121,483,104 (GRCm39)	K561E	probably benign	Het
Dkk3	A	G	7: 111,757,452 (GRCm39)	F51L	probably damaging	Het
Dnai1	C	T	4: 41,596,274 (GRCm39)	R20*	probably null	Het
Dr1	G	A	5: 108,417,471 (GRCm39)	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,961,067 (GRCm39)	Y16C	probably damaging	Het
Epb41	A	G	4: 131,702,924 (GRCm39)	I464T	probably damaging	Het
Erc2	A	G	14: 27,993,608 (GRCm39)	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,305,429 (GRCm39)	D315G	probably damaging	Het
Fads6	A	G	11: 115,187,503 (GRCm39)	I64T	probably benign	Het
Fshr	T	C	17: 89,352,553 (GRCm39)	N107S	probably benign	Het
Gbp11	A	T	5: 105,491,616 (GRCm39)	N60K	probably benign	Het
Gm2a	C	T	11: 54,994,491 (GRCm39)	Q54*	probably null	Het
Hydin	A	G	8: 111,314,407 (GRCm39)	D4297G	probably benign	Het
Il6st	G	A	13: 112,611,648 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,723,966 (GRCm39)	H499Q	probably benign	Het
Kif5c	A	G	2: 49,648,924 (GRCm39)	K956R	possibly damaging	Het
Krt74	G	A	15: 101,669,114 (GRCm39)		noncoding transcript	Het
Map3k9	A	T	12: 81,772,555 (GRCm39)	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479 (GRCm39)	D2871G	probably benign	Het
Mylk4	T	C	13: 32,900,649 (GRCm39)	T294A	probably benign	Het
Nbeal2	C	T	9: 110,471,226 (GRCm39)	V252I	probably benign	Het
Nectin3	A	G	16: 46,279,183 (GRCm39)	I265T	possibly damaging	Het
Opn1sw	A	T	6: 29,380,203 (GRCm39)	L71Q	probably damaging	Het
Or4c12	A	G	2: 89,773,733 (GRCm39)	I242T	probably damaging	Het
Or52m1	G	A	7: 102,290,157 (GRCm39)	E235K	possibly damaging	Het
Or5aq6	G	T	2: 86,923,473 (GRCm39)	H89Q	probably benign	Het
Or5b97	A	T	19: 12,879,164 (GRCm39)		probably null	Het
Or5k17	A	G	16: 58,746,748 (GRCm39)	F62S	probably damaging	Het
Or8b46	T	A	9: 38,450,676 (GRCm39)	C162S	probably damaging	Het
Or8k27	A	T	2: 86,276,220 (GRCm39)	Y35*	probably null	Het
Pced1a	G	A	2: 130,261,553 (GRCm39)	P367S	probably benign	Het
Pkhd1	A	T	1: 20,417,447 (GRCm39)	M2568K	probably null	Het
Pla2r1	A	G	2: 60,255,694 (GRCm39)		probably null	Het
Plpp1	T	C	13: 112,971,519 (GRCm39)	I62T	probably benign	Het
Polr3g	G	A	13: 81,842,892 (GRCm39)	T41I	probably damaging	Het
Ptch2	T	C	4: 116,953,630 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,104 (GRCm39)	H315L	probably benign	Het
Setd1b	G	T	5: 123,295,723 (GRCm39)	S1097I	unknown	Het
Sfxn4	A	G	19: 60,839,383 (GRCm39)		probably benign	Het
Sh3tc1	T	C	5: 35,857,128 (GRCm39)	E1237G	probably damaging	Het
Slc25a38	A	T	9: 119,952,709 (GRCm39)	N287I	probably benign	Het
Slc25a48	A	G	13: 56,596,811 (GRCm39)	T31A	probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc8b1	A	G	5: 120,669,220 (GRCm39)		probably benign	Het
Slco4c1	A	C	1: 96,795,584 (GRCm39)	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,063,803 (GRCm39)	T2208A	probably benign	Het
Srebf1	G	A	11: 60,092,502 (GRCm39)	T843I	probably benign	Het
Srl	A	G	16: 4,305,429 (GRCm39)	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,484,031 (GRCm39)	C76*	probably null	Het
Tdrd3	C	A	14: 87,723,656 (GRCm39)	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trpm3	A	G	19: 22,965,176 (GRCm39)	E1547G	probably damaging	Het
Ubn1	A	G	16: 4,880,484 (GRCm39)		probably null	Het
Usp10	T	A	8: 120,674,540 (GRCm39)	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,405,134 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,222 (GRCm39)	V443E	possibly damaging	Het
Whamm	G	A	7: 81,235,972 (GRCm39)	V392I	possibly damaging	Het
Zfhx4	A	G	3: 5,465,554 (GRCm39)	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,112,927 (GRCm39)	T356S	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
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
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'- AGCTGATGACTTGATCCTGAAGAAAGC -3'
(R):5'- TCCAGTGATGGCAAACCTCATACG -3'

Sequencing Primer
(F):5'- GACTTGATCCTGAAGAAAGCACTTAC -3'
(R):5'- AGTAGAGAGACACCATTGTTACC -3'

Posted On

2013-06-11