Mutagenetix > Incidental Mutation

Incidental Mutation 'R5092:Acsf3'

500860

Institutional Source

Beutler Lab

Gene Symbol

Acsf3

Ensembl Gene

ENSMUSG00000015016

Gene Name

acyl-CoA synthetase family member 3

Synonyms

MMRRC Submission

042681-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R5092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123502225-123544619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123544131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 536 (R536S)

Ref Sequence

ENSEMBL: ENSMUSP00000148762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015160] [ENSMUST00000127664] [ENSMUST00000212781] [ENSMUST00000212790]

AlphaFold

Q3URE1

Predicted Effect

probably benign
Transcript: ENSMUST00000015160
AA Change: R536S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: R536S

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	47	478	3.9e-86	PFAM
Pfam:AMP-binding_C	486	561	6.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212781

Predicted Effect

probably benign
Transcript: ENSMUST00000212790
AA Change: R536S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,637,091 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,208,535 (GRCm39)	L236Q	probably damaging	Het
Acp2	A	T	2: 91,038,391 (GRCm39)	T255S	probably benign	Het
Adgrb1	T	G	15: 74,401,664 (GRCm39)	V220G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atp5f1b	A	G	10: 127,919,854 (GRCm39)	Q74R	probably benign	Het
Bltp1	A	T	3: 37,054,234 (GRCm39)	M3118L	probably benign	Het
Brf1	G	A	12: 112,943,352 (GRCm39)	T166M	probably damaging	Het
Capn9	A	G	8: 125,324,264 (GRCm39)	K188R	probably damaging	Het
Casp8	A	T	1: 58,883,835 (GRCm39)	N381Y	possibly damaging	Het
Ccdc88b	A	G	19: 6,825,600 (GRCm39)	S1218P	probably damaging	Het
Cdc42bpg	C	T	19: 6,363,250 (GRCm39)	P403S	probably benign	Het
Cdkal1	T	A	13: 30,030,222 (GRCm39)	Y91F	probably damaging	Het
Cdyl2	T	C	8: 117,350,679 (GRCm39)	N151D	possibly damaging	Het
Cnot1	T	A	8: 96,479,396 (GRCm39)	R875S	possibly damaging	Het
Cpd	A	G	11: 76,702,530 (GRCm39)	S613P	possibly damaging	Het
Cyp2e1	G	T	7: 140,354,648 (GRCm39)	R492L	probably damaging	Het
D5Ertd579e	G	A	5: 36,760,047 (GRCm39)	T1371M	probably benign	Het
Dcaf8	A	G	1: 172,014,476 (GRCm39)	T394A	probably benign	Het
Dgka	T	C	10: 128,571,702 (GRCm39)	E117G	probably damaging	Het
Dock4	G	A	12: 40,894,440 (GRCm39)	V1867I	probably benign	Het
E2f2	G	T	4: 135,914,248 (GRCm39)	A333S	probably benign	Het
Eif3l	T	C	15: 78,968,354 (GRCm39)	S208P	probably benign	Het
Elovl3	A	T	19: 46,122,961 (GRCm39)	H179L	probably damaging	Het
Eml5	T	C	12: 98,758,875 (GRCm39)	D1766G	probably damaging	Het
Eno4	A	G	19: 58,934,023 (GRCm39)	T75A	probably benign	Het
Fam135a	C	T	1: 24,067,888 (GRCm39)	D94N	probably benign	Het
Fasn	G	T	11: 120,705,862 (GRCm39)	Q1136K	probably benign	Het
Fcer1a	T	G	1: 173,053,022 (GRCm39)	N58T	probably damaging	Het
Frmd4b	T	A	6: 97,272,941 (GRCm39)	D763V	probably damaging	Het
Gm43518	A	G	5: 124,076,297 (GRCm39)	T115A	probably damaging	Het
Gria4	C	T	9: 4,472,176 (GRCm39)	E438K	probably benign	Het
Grin2d	T	C	7: 45,503,692 (GRCm39)	E681G	probably damaging	Het
Gtf3c5	G	T	2: 28,472,885 (GRCm39)	N35K	possibly damaging	Het
Hydin	A	G	8: 111,309,300 (GRCm39)	T4031A	probably benign	Het
Igfn1	G	T	1: 135,892,564 (GRCm39)	N2185K	probably benign	Het
Il17rb	T	C	14: 29,724,333 (GRCm39)	T174A	probably benign	Het
Kdm3b	T	A	18: 34,946,515 (GRCm39)	C835S	probably benign	Het
Lgi2	A	T	5: 52,695,429 (GRCm39)	I510N	probably damaging	Het
Map3k6	A	G	4: 132,979,054 (GRCm39)	E1164G	probably benign	Het
Mpv17l	T	A	16: 13,758,537 (GRCm39)	M1K	probably null	Het
Myoc	T	A	1: 162,467,203 (GRCm39)	L124Q	probably damaging	Het
Nbeal2	C	A	9: 110,455,796 (GRCm39)		probably null	Het
Nek10	A	G	14: 14,820,851 (GRCm38)	K13E	possibly damaging	Het
Nt5dc2	A	G	14: 30,860,989 (GRCm39)	H491R	possibly damaging	Het
Or4f61	A	C	2: 111,922,452 (GRCm39)	M198R	possibly damaging	Het
Or51b6	T	A	7: 103,556,406 (GRCm39)	Y250*	probably null	Het
Or8k21	T	C	2: 86,144,706 (GRCm39)	Q308R	probably benign	Het
Pclo	T	A	5: 14,727,322 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,092 (GRCm39)	N371I	possibly damaging	Het
Phf20l1	T	A	15: 66,508,762 (GRCm39)	S873T	possibly damaging	Het
Plch1	T	C	3: 63,606,131 (GRCm39)	T1249A	probably benign	Het
Plekhn1	A	T	4: 156,309,222 (GRCm39)	I228N	possibly damaging	Het
Ppp1r12a	A	T	10: 108,103,263 (GRCm39)		probably null	Het
Ptchd3	T	C	11: 121,721,972 (GRCm39)	Y282H	probably damaging	Het
Ptprk	T	A	10: 28,468,769 (GRCm39)	N1396K	probably damaging	Het
Rap1gap2	T	C	11: 74,329,121 (GRCm39)	E81G	probably damaging	Het
Rpf2	T	C	10: 40,122,971 (GRCm39)	M1V	probably null	Het
Rpgrip1l	G	A	8: 91,948,012 (GRCm39)	Q1224*	probably null	Het
Rreb1	A	G	13: 38,112,254 (GRCm39)	D286G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Senp5	A	T	16: 31,807,960 (GRCm39)	N431K	probably benign	Het
Serpina1f	A	C	12: 103,659,809 (GRCm39)	S158A	probably damaging	Het
Sertad3	T	A	7: 27,176,145 (GRCm39)	I193N	probably damaging	Het
Slc22a8	T	A	19: 8,571,528 (GRCm39)	N86K	probably damaging	Het
Slc6a2	T	C	8: 93,721,347 (GRCm39)	V492A	possibly damaging	Het
Slf2	T	A	19: 44,940,523 (GRCm39)	D773E	probably benign	Het
Slmap	A	C	14: 26,184,744 (GRCm39)	L272R	probably damaging	Het
Smyd5	T	C	6: 85,422,185 (GRCm39)		probably benign	Het
Snx21	G	T	2: 164,628,666 (GRCm39)	R103L	probably damaging	Het
Sphk2	T	A	7: 45,361,777 (GRCm39)		probably null	Het
Stab1	T	C	14: 30,867,812 (GRCm39)	K1653E	probably benign	Het
Syde1	A	G	10: 78,425,252 (GRCm39)	V253A	probably benign	Het
Sympk	G	T	7: 18,776,584 (GRCm39)	R492L	probably benign	Het
Taar7f	T	C	10: 23,925,451 (GRCm39)	I15T	probably benign	Het
Tas2r140	A	G	6: 40,468,200 (GRCm39)	D10G	probably benign	Het
Tbcc	A	G	17: 47,202,600 (GRCm39)	S329G	probably benign	Het
Teddm3	G	A	16: 20,971,900 (GRCm39)	T223M	probably benign	Het
Tex14	G	T	11: 87,405,668 (GRCm39)	C860F	probably benign	Het
Thada	A	T	17: 84,751,896 (GRCm39)	L360Q	probably damaging	Het
Thop1	C	A	10: 80,916,412 (GRCm39)	H473Q	probably damaging	Het
Tln2	T	C	9: 67,163,310 (GRCm39)	D1075G	probably benign	Het
Tmem130	G	A	5: 144,680,528 (GRCm39)	T292I	probably benign	Het
Tmem198b	T	C	10: 128,637,305 (GRCm39)	N278S	probably benign	Het
Ttc21a	A	T	9: 119,771,731 (GRCm39)	T177S	probably benign	Het
Ubr2	A	T	17: 47,280,173 (GRCm39)	C659S	probably damaging	Het
Vmn2r4	T	C	3: 64,298,373 (GRCm39)	K585R	probably benign	Het
Vmn2r86	A	G	10: 130,282,456 (GRCm39)	I720T	probably damaging	Het
Wdr35	G	T	12: 9,037,327 (GRCm39)	W311L	probably damaging	Het
Zfp39	A	T	11: 58,782,028 (GRCm39)	F245I	possibly damaging	Het
Zftraf1	A	T	15: 76,530,512 (GRCm39)	F269L	probably benign	Het
Zmym5	G	A	14: 57,034,236 (GRCm39)	T325I	probably benign	Het
Zng1	A	T	19: 24,898,383 (GRCm39)		probably null	Het

Other mutations in Acsf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Acsf3	APN	8	123,507,381 (GRCm39)	splice site	probably benign
IGL01930:Acsf3	APN	8	123,507,085 (GRCm39)	missense	probably benign	0.03
IGL02064:Acsf3	APN	8	123,506,986 (GRCm39)	missense	possibly damaging	0.74
IGL02321:Acsf3	APN	8	123,506,853 (GRCm39)	missense	possibly damaging	0.57
IGL02342:Acsf3	APN	8	123,544,237 (GRCm39)	missense	probably benign	0.03
R0233:Acsf3	UTSW	8	123,507,031 (GRCm39)	missense	probably damaging	1.00
R0233:Acsf3	UTSW	8	123,507,031 (GRCm39)	missense	probably damaging	1.00
R0240:Acsf3	UTSW	8	123,506,920 (GRCm39)	missense	probably damaging	1.00
R0240:Acsf3	UTSW	8	123,506,920 (GRCm39)	missense	probably damaging	1.00
R0566:Acsf3	UTSW	8	123,508,266 (GRCm39)	missense	possibly damaging	0.95
R1255:Acsf3	UTSW	8	123,512,705 (GRCm39)	critical splice donor site	probably null
R1836:Acsf3	UTSW	8	123,506,922 (GRCm39)	missense	probably damaging	0.99
R1886:Acsf3	UTSW	8	123,510,741 (GRCm39)	missense	probably damaging	1.00
R1977:Acsf3	UTSW	8	123,508,272 (GRCm39)	missense	probably damaging	1.00
R2204:Acsf3	UTSW	8	123,540,383 (GRCm39)	missense	probably damaging	0.98
R4735:Acsf3	UTSW	8	123,508,218 (GRCm39)	missense	probably damaging	1.00
R4795:Acsf3	UTSW	8	123,506,896 (GRCm39)	missense	possibly damaging	0.59
R4850:Acsf3	UTSW	8	123,544,175 (GRCm39)	missense	probably damaging	1.00
R5435:Acsf3	UTSW	8	123,507,020 (GRCm39)	missense	probably damaging	1.00
R6115:Acsf3	UTSW	8	123,517,411 (GRCm39)	missense	probably damaging	1.00
R6147:Acsf3	UTSW	8	123,508,213 (GRCm39)	missense	probably damaging	1.00
R6283:Acsf3	UTSW	8	123,512,694 (GRCm39)	missense	probably damaging	1.00
R6848:Acsf3	UTSW	8	123,517,329 (GRCm39)	missense	probably damaging	1.00
R7268:Acsf3	UTSW	8	123,517,401 (GRCm39)	missense	probably benign	0.16
R7291:Acsf3	UTSW	8	123,540,316 (GRCm39)	missense	probably benign	0.03
R7319:Acsf3	UTSW	8	123,539,770 (GRCm39)	missense	probably damaging	1.00
R7350:Acsf3	UTSW	8	123,512,685 (GRCm39)	missense	probably benign	0.00
R7402:Acsf3	UTSW	8	123,507,163 (GRCm39)	missense	probably damaging	1.00
R7890:Acsf3	UTSW	8	123,512,704 (GRCm39)	critical splice donor site	probably null
R7908:Acsf3	UTSW	8	123,512,562 (GRCm39)	missense	probably damaging	0.99
R8058:Acsf3	UTSW	8	123,540,373 (GRCm39)	missense	possibly damaging	0.88
R8345:Acsf3	UTSW	8	123,508,284 (GRCm39)	missense	probably benign	0.25
R9468:Acsf3	UTSW	8	123,539,769 (GRCm39)	missense	probably damaging	1.00
Z1177:Acsf3	UTSW	8	123,506,703 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGTTATCCCCAGGACAAGAAG -3'
(R):5'- TCCGGTCAACCTGATTGCAG -3'

Sequencing Primer
(F):5'- CCAGTCTGGATGAGGAGAGC -3'
(R):5'- TTCCATCCGAGGCCCATAG -3'

Posted On

2017-12-01