Mutagenetix > Incidental Mutation

Incidental Mutation 'R8058:Acsf3'

619546

Institutional Source

Beutler Lab

Gene Symbol

Acsf3

Ensembl Gene

ENSMUSG00000015016

Gene Name

acyl-CoA synthetase family member 3

Synonyms

MMRRC Submission

067495-MU

Accession Numbers

Essential gene?

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

Stock #

R8058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123502225-123544619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123540373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 524 (H524Y)

Ref Sequence

ENSEMBL: ENSMUSP00000148725 (fasta)

Gene Model

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

AlphaFold

Q3URE1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015160
AA Change: H524Y

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: H524Y

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

possibly damaging
Transcript: ENSMUST00000212781
AA Change: H524Y

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212790
AA Change: H524Y

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,081,954 (GRCm39)	D769N	possibly damaging	Het
Abcb6	A	G	1: 75,156,653 (GRCm39)	L37P	possibly damaging	Het
Abcg1	G	T	17: 31,324,504 (GRCm39)	A250S	probably benign	Het
Agbl4	A	G	4: 110,518,039 (GRCm39)	K110R	unknown	Het
Arfgap2	G	A	2: 91,096,644 (GRCm39)		probably null	Het
B4galt4	T	C	16: 38,586,383 (GRCm39)		probably null	Het
Bex6	G	T	16: 32,005,224 (GRCm39)	D11Y	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
C8b	A	T	4: 104,647,811 (GRCm39)	D334V	probably damaging	Het
Capn11	T	C	17: 45,954,681 (GRCm39)	Q152R	probably null	Het
Ccdc171	C	A	4: 83,499,003 (GRCm39)	Q234K	probably damaging	Het
Cemip2	C	A	19: 21,829,695 (GRCm39)	A1268E	probably benign	Het
Clec2h	A	G	6: 128,650,966 (GRCm39)	D82G	probably benign	Het
Creld2	A	G	15: 88,710,632 (GRCm39)	D349G	probably damaging	Het
D430041D05Rik	A	G	2: 103,979,128 (GRCm39)	*1415Q	probably null	Het
Dnmt3a	T	C	12: 3,952,768 (GRCm39)	V755A	possibly damaging	Het
Doc2a	G	T	7: 126,450,164 (GRCm39)	V201L	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	G	T	2: 125,193,889 (GRCm39)	D1359E	possibly damaging	Het
Fcnb	T	C	2: 27,969,707 (GRCm39)	Y120C	probably damaging	Het
Fras1	T	A	5: 96,842,778 (GRCm39)	D1665E	probably benign	Het
Fry	A	T	5: 150,419,232 (GRCm39)	D524V		Het
Garem1	A	G	18: 21,281,621 (GRCm39)	L245P	probably damaging	Het
Gdf6	A	G	4: 9,859,712 (GRCm39)	S265G	probably benign	Het
Gm5591	T	C	7: 38,218,363 (GRCm39)	I837V	probably benign	Het
Gpr61	T	C	3: 108,058,211 (GRCm39)	Y150C	probably damaging	Het
Grin2b	A	T	6: 135,710,225 (GRCm39)	L1107Q	probably damaging	Het
Helb	A	G	10: 119,941,483 (GRCm39)	S402P	probably benign	Het
Htt	A	G	5: 34,977,444 (GRCm39)	T777A	probably benign	Het
Iffo2	A	G	4: 139,341,164 (GRCm39)	D383G	probably benign	Het
Ikzf3	G	T	11: 98,407,753 (GRCm39)	Y29*	probably null	Het
Ints2	A	T	11: 86,146,179 (GRCm39)	M143K	probably benign	Het
Jmjd1c	T	C	10: 67,090,274 (GRCm39)	V2292A	not run	Het
Katnip	A	G	7: 125,442,188 (GRCm39)	E725G	probably benign	Het
Lamb1	C	A	12: 31,353,046 (GRCm39)	Q916K	probably benign	Het
Lrrtm4	G	A	6: 79,999,528 (GRCm39)	M313I	probably benign	Het
Lum	A	G	10: 97,404,425 (GRCm39)	I107V	probably benign	Het
Ly6h	T	C	15: 75,437,061 (GRCm39)	E126G	probably benign	Het
Map3k5	G	A	10: 20,007,860 (GRCm39)	V1230M	probably damaging	Het
Mcoln1	T	C	8: 3,558,378 (GRCm39)	F211L	probably benign	Het
Mink1	G	A	11: 70,494,594 (GRCm39)	W258*	probably null	Het
Muc16	G	T	9: 18,571,298 (GRCm39)	S407*	probably null	Het
Ngef	G	A	1: 87,473,744 (GRCm39)	Q13*	probably null	Het
Nxpe5	T	A	5: 138,237,573 (GRCm39)	Y44*	probably null	Het
Or13d1	T	A	4: 52,971,106 (GRCm39)	L162M	probably benign	Het
Or4a77	A	G	2: 89,487,671 (GRCm39)	V38A	probably benign	Het
Or5t9	A	G	2: 86,660,052 (GRCm39)	R319G	probably benign	Het
Or7e178	T	A	9: 20,225,476 (GRCm39)	I247F	probably damaging	Het
Or8g24	A	T	9: 38,989,862 (GRCm39)	Y60N	probably damaging	Het
Or8h8	C	A	2: 86,753,151 (GRCm39)	A242S	probably benign	Het
Orc3	C	A	4: 34,595,223 (GRCm39)	E249*	probably null	Het
Otogl	A	T	10: 107,598,287 (GRCm39)	C2288S	probably damaging	Het
Pde1b	A	G	15: 103,433,238 (GRCm39)	E249G	probably damaging	Het
Phf2	T	C	13: 48,976,558 (GRCm39)	E219G	unknown	Het
Rbm19	T	A	5: 120,278,440 (GRCm39)		probably null	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Sbk2	A	G	7: 4,960,289 (GRCm39)	Y294H	possibly damaging	Het
Selenoo	T	C	15: 88,976,942 (GRCm39)	I198T	possibly damaging	Het
Sema3f	T	C	9: 107,559,800 (GRCm39)	E729G	probably benign	Het
Serpinb1b	A	T	13: 33,269,293 (GRCm39)	T9S	probably benign	Het
Sfxn4	T	C	19: 60,832,690 (GRCm39)	T235A	probably damaging	Het
Shc4	A	T	2: 125,491,154 (GRCm39)	Y461*	probably null	Het
Slc22a15	T	C	3: 101,771,926 (GRCm39)	D391G	probably benign	Het
Slc22a23	G	T	13: 34,489,167 (GRCm39)	Y239*	probably null	Het
Slc24a2	G	A	4: 86,909,750 (GRCm39)	A656V	probably damaging	Het
Slc2a5	A	T	4: 150,227,590 (GRCm39)	I470F	probably damaging	Het
Sptbn4	T	C	7: 27,063,694 (GRCm39)	E2249G	possibly damaging	Het
Tas2r139	A	T	6: 42,118,753 (GRCm39)	Q295L	probably benign	Het
Tdrd7	C	A	4: 46,034,309 (GRCm39)	S1051R	probably benign	Het
Tnfrsf18	G	A	4: 156,112,802 (GRCm39)	A163T	probably benign	Het
Ube3b	T	C	5: 114,544,846 (GRCm39)	V596A	possibly damaging	Het
Vmn2r10	T	A	5: 109,149,955 (GRCm39)	N363I	probably benign	Het
Vmn2r15	T	A	5: 109,440,956 (GRCm39)	I301F	probably damaging	Het
Yod1	C	T	1: 130,646,806 (GRCm39)	Q228*	probably null	Het
Zfp433	A	T	10: 81,556,124 (GRCm39)	K209*	probably null	Het
Zfp865	G	A	7: 5,033,445 (GRCm39)	V477I	probably benign	Het
Zfp937	T	A	2: 150,081,421 (GRCm39)	Y484N	probably benign	Het
Zfp951	T	G	5: 104,962,312 (GRCm39)	H418P	probably 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
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
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'- AGATGCTTCCCACTCCCATG -3'
(R):5'- ACAAACTAGTCACGGGTCCC -3'

Sequencing Primer
(F):5'- ATGAGTGTCATCCCCACGG -3'
(R):5'- TAGTCACGGGTCCCACTGTTG -3'

Posted On

2020-01-23