Mutagenetix > Incidental Mutation

Incidental Mutation 'R0233:Acsf3'

58903

Institutional Source

Beutler Lab

Gene Symbol

Acsf3

Ensembl Gene

ENSMUSG00000015016

Gene Name

acyl-CoA synthetase family member 3

Synonyms

MMRRC Submission

038474-MU

Accession Numbers

Essential gene?

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

Stock #

R0233 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

123502225-123544619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123507031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 108 (Y108C)

Ref Sequence

ENSEMBL: ENSMUSP00000148762 (fasta)

Gene Model

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

AlphaFold

Q3URE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000015160
AA Change: Y108C

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

SMART Domains

Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: Y108C

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 damaging
Transcript: ENSMUST00000212781
AA Change: Y108C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212790
AA Change: Y108C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212903

Meta Mutation Damage Score

0.8839

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

99% (93/94)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,330 (GRCm39)	S212P	probably benign	Het
A730018C14Rik	A	C	12: 112,381,864 (GRCm39)		noncoding transcript	Het
Acsl1	A	G	8: 46,966,606 (GRCm39)		probably benign	Het
Adad1	T	A	3: 37,139,097 (GRCm39)	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Ano5	T	C	7: 51,185,218 (GRCm39)	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,565,397 (GRCm39)	N114S	probably damaging	Het
Arap1	C	T	7: 101,049,448 (GRCm39)	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,830,524 (GRCm39)	S525T	probably damaging	Het
B4galnt1	T	C	10: 127,006,780 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,002,712 (GRCm39)	C1552*	probably null	Het
Cacna2d2	A	T	9: 107,391,869 (GRCm39)	I463F	probably damaging	Het
Casp6	T	A	3: 129,699,624 (GRCm39)	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,152,650 (GRCm39)	F752I	probably benign	Het
Cdhr4	A	G	9: 107,874,133 (GRCm39)	I76V	probably benign	Het
Copa	T	C	1: 171,915,234 (GRCm39)		probably null	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Cuzd1	C	A	7: 130,913,545 (GRCm39)	K357N	possibly damaging	Het
Dnah5	T	A	15: 28,333,216 (GRCm39)	F2206I	probably damaging	Het
Dnase2b	T	A	3: 146,288,305 (GRCm39)	K263N	probably benign	Het
Dync1h1	T	A	12: 110,607,414 (GRCm39)	D2668E	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam124b	T	C	1: 80,190,703 (GRCm39)	S227G	probably damaging	Het
Fam13b	T	A	18: 34,581,137 (GRCm39)	Y675F	probably damaging	Het
Fgf21	T	A	7: 45,264,721 (GRCm39)	M4L	probably benign	Het
Flg2	T	A	3: 93,109,104 (GRCm39)	C377*	probably null	Het
Foxp2	T	C	6: 15,409,752 (GRCm39)	S451P	probably damaging	Het
Gli2	A	T	1: 118,763,655 (GRCm39)	S1499T	probably damaging	Het
Gm9920	A	T	15: 54,975,857 (GRCm39)		probably benign	Het
Gpx5	T	A	13: 21,471,573 (GRCm39)	D210V	probably damaging	Het
H2-T5	A	G	17: 36,478,361 (GRCm39)	Y224H	probably benign	Het
Hoxb5	T	A	11: 96,195,853 (GRCm39)	S234T	probably benign	Het
Irf9	C	A	14: 55,843,551 (GRCm39)	N140K	probably benign	Het
Isg20	C	A	7: 78,566,334 (GRCm39)	D94E	probably damaging	Het
Isg20	C	T	7: 78,564,243 (GRCm39)	T50M	probably damaging	Het
Izumo1	T	C	7: 45,273,592 (GRCm39)	L115P	probably damaging	Het
Kdm3b	G	A	18: 34,942,473 (GRCm39)	E655K	probably damaging	Het
Kdm5b	T	G	1: 134,532,372 (GRCm39)		probably benign	Het
Kifc3	A	G	8: 95,828,100 (GRCm39)		probably null	Het
Kpna2	T	C	11: 106,883,457 (GRCm39)	S111G	probably benign	Het
Krt73	A	T	15: 101,710,451 (GRCm39)	N94K	probably benign	Het
Lgmn	G	T	12: 102,366,248 (GRCm39)	D247E	probably damaging	Het
Lilra6	C	T	7: 3,917,935 (GRCm39)	V70I	possibly damaging	Het
Lrig3	G	A	10: 125,849,395 (GRCm39)		probably null	Het
Lrrc4	T	C	6: 28,829,734 (GRCm39)	H627R	probably benign	Het
Macf1	G	A	4: 123,343,920 (GRCm39)		probably benign	Het
Nat9	C	A	11: 115,074,234 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,621,441 (GRCm39)	D2G	probably benign	Het
Or10j3b	A	T	1: 173,043,868 (GRCm39)	I217F	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or5w8	A	G	2: 87,688,096 (GRCm39)	I192M	probably benign	Het
Parl	G	A	16: 20,106,657 (GRCm39)	P184L	probably damaging	Het
Pdzd8	A	T	19: 59,288,811 (GRCm39)	M863K	probably damaging	Het
Phlda3	T	C	1: 135,694,559 (GRCm39)	S125P	probably damaging	Het
Pkd1l3	A	T	8: 110,377,412 (GRCm39)	R217*	probably null	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Pramel24	A	T	4: 143,452,633 (GRCm39)	E21D	possibly damaging	Het
Prg4	T	C	1: 150,329,298 (GRCm39)		probably benign	Het
Prkab1	A	G	5: 116,159,711 (GRCm39)		probably benign	Het
Pyroxd1	A	G	6: 142,300,356 (GRCm39)	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,571,360 (GRCm39)		probably null	Het
Rgs12	T	A	5: 35,187,842 (GRCm39)	S500T	probably damaging	Het
Ripor3	T	C	2: 167,834,518 (GRCm39)	D299G	probably damaging	Het
Robo4	T	C	9: 37,313,977 (GRCm39)	L76P	probably damaging	Het
Sbno1	T	C	5: 124,514,289 (GRCm39)	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,699,904 (GRCm39)	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,946,729 (GRCm39)	M389L	probably benign	Het
Sfswap	C	A	5: 129,631,607 (GRCm39)	P745Q	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slitrk3	C	T	3: 72,955,910 (GRCm39)	S954N	probably benign	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Sos2	A	T	12: 69,664,104 (GRCm39)	I460N	probably benign	Het
Spink7	T	A	18: 62,727,423 (GRCm39)	I34L	probably benign	Het
Srbd1	A	G	17: 86,365,173 (GRCm39)	S628P	probably damaging	Het
Srm	G	A	4: 148,677,829 (GRCm39)	G156S	probably damaging	Het
Sulf2	T	C	2: 165,927,589 (GRCm39)		probably benign	Het
Tmc4	T	A	7: 3,669,866 (GRCm39)	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,288,389 (GRCm39)	F433L	probably damaging	Het
Tmprss13	T	G	9: 45,248,398 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,918,007 (GRCm39)	F2307L	probably benign	Het
Tsr3	A	G	17: 25,461,484 (GRCm39)	E274G	probably benign	Het
Ttn	T	C	2: 76,725,488 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,548 (GRCm39)	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,259,325 (GRCm39)	I155T	possibly damaging	Het
Ugt2a2	T	C	5: 87,622,860 (GRCm39)	N36S	probably damaging	Het
Usp13	T	A	3: 32,969,813 (GRCm39)		probably null	Het
Vmn1r52	T	G	6: 90,156,593 (GRCm39)	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,968 (GRCm39)	S179T	probably benign	Het
Vwf	A	T	6: 125,663,473 (GRCm39)	R2805W	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp286	T	C	11: 62,671,219 (GRCm39)	T285A	possibly damaging	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
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
R5092:Acsf3	UTSW	8	123,544,131 (GRCm39)	missense	probably benign	0.12
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'- TGATTCCCAGAAGACACCGAGGAC -3'
(R):5'- TGGACTTAGCCGCTCCAAGTACTC -3'

Sequencing Primer
(F):5'- GGAGTGTCCCGGTATTCATCC -3'
(R):5'- GCTCCAAGTACTCCTGGC -3'

Posted On

2013-07-11