Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Acsf3'

570506

Institutional Source

Beutler Lab

Gene Symbol

Acsf3

Ensembl Gene

ENSMUSG00000015016

Gene Name

acyl-CoA synthetase family member 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122775486-122817880 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122785946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 369 (T369A)

Ref Sequence

ENSEMBL: ENSMUSP00000148725 (fasta)

Gene Model

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

AlphaFold

Q3URE1

Predicted Effect

probably benign
Transcript: ENSMUST00000015160
AA Change: T369A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: T369A

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
AA Change: T369A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000212790
AA Change: T369A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	T	17: 25,946,711	V534D	probably damaging	Het
Abraxas2	T	C	7: 132,874,849	F106S	probably damaging	Het
Adgrf5	G	A	17: 43,428,444		probably null	Het
Aff1	T	A	5: 103,847,092	I1052K	probably benign	Het
Akap8	T	C	17: 32,316,575	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,227,450	M166L	probably benign	Het
Allc	T	A	12: 28,563,409	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,777,110	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,971,076	K8E	possibly damaging	Het
Bckdhb	T	A	9: 84,010,326	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,475,375		probably null	Het
Cd44	G	T	2: 102,834,262	N531K	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cr2	A	G	1: 195,155,286	V792A	probably benign	Het
Cstf3	T	C	2: 104,608,956	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,836,783	E151G	probably benign	Het
Dbr1	T	C	9: 99,582,549	F127S		Het
Ddit4	A	T	10: 59,951,495	D6E	probably damaging	Het
Disc1	G	C	8: 125,165,102	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,819		probably null	Het
Dnah9	T	C	11: 66,080,578	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,901,505	R608G	probably damaging	Het
Efcab5	G	C	11: 77,137,561	P315A	probably benign	Het
Eif4a2	A	G	16: 23,113,262	Y392C	possibly damaging	Het
F5	G	T	1: 164,192,708	K917N	probably benign	Het
Fig4	T	C	10: 41,251,756	M571V	probably benign	Het
Flot2	T	A	11: 78,057,976	I259N	probably damaging	Het
Gm8122	C	A	14: 43,230,601		probably null	Het
Gpr152	T	C	19: 4,142,964	V168A	possibly damaging	Het
H1f0	G	A	15: 79,028,903	G61D	probably damaging	Het
Ihh	T	A	1: 74,948,333	K183M	probably damaging	Het
Itga2	A	G	13: 114,837,202	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,369,260	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,621,966	L120R	probably damaging	Het
Krt14	C	A	11: 100,205,100	E211*	probably null	Het
Lars2	T	C	9: 123,427,480	L350P	probably damaging	Het
Lrba	T	C	3: 86,351,902	I1408T	probably damaging	Het
Lrrc27	A	G	7: 139,226,106	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,235,626	R617L	probably benign	Het
M1ap	A	G	6: 82,981,949	D187G	probably benign	Het
March1	A	T	8: 66,468,399	K243*	probably null	Het
Med16	C	T	10: 79,903,197	V252M	probably damaging	Het
Micu3	T	C	8: 40,348,958	S189P	probably benign	Het
Mier2	C	A	10: 79,540,298	M264I	unknown	Het
Mindy4	A	T	6: 55,301,025	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,976,336	Q534*	probably null	Het
Mroh9	C	T	1: 163,076,289		probably null	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Mta3	T	A	17: 83,708,441	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,600,650	H147L	probably damaging	Het
Nfam1	T	C	15: 83,010,439	K155R	probably benign	Het
Nlrp6	A	T	7: 140,921,278		probably benign	Het
Olfr1006	A	G	2: 85,674,845	F102S		Het
Olfr1153	T	C	2: 87,896,409		probably benign	Het
Olfr1164	A	T	2: 88,093,198	F246Y	probably benign	Het
Olfr213	A	G	6: 116,540,534	E27G	probably benign	Het
Olfr357	T	A	2: 36,996,861	I17N	possibly damaging	Het
P4ha1	A	G	10: 59,350,418	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,458,379	D636E	probably benign	Het
Polr2a	A	G	11: 69,741,060	L1060P	possibly damaging	Het
Ptgdr2	C	A	19: 10,940,955	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,937,421	R121S	probably benign	Het
Rasa2	T	C	9: 96,544,355	S813G	probably benign	Het
Rassf5	T	C	1: 131,178,536	K411E	possibly damaging	Het
Reep4	T	C	14: 70,546,547	Y35H	probably damaging	Het
Ror1	A	T	4: 100,425,943	M402L	probably benign	Het
Slc32a1	A	G	2: 158,614,406	E327G	probably damaging	Het
Spen	C	T	4: 141,479,385	E644K	unknown	Het
Tarsl2	C	G	7: 65,658,924	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,218,675	I92T	probably damaging	Het
Tifab	A	G	13: 56,176,307	S108P	probably damaging	Het
Traf1	T	C	2: 34,948,233	N198D	probably benign	Het
Trim35	T	C	14: 66,309,205	Y474H	probably damaging	Het
Trim54	T	A	5: 31,137,161	D344E	probably benign	Het
Ttc28	A	T	5: 111,226,037	H1113L	probably damaging	Het
Vcam1	T	A	3: 116,114,562	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,268,385	T281S	probably benign	Het
Whrn	C	T	4: 63,431,959	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,726,876	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839	N2073K	probably benign	Het
Zgpat	T	A	2: 181,380,435	V163D		Het

Other mutations in Acsf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Acsf3	APN	8	122780642	splice site	probably benign
IGL01930:Acsf3	APN	8	122780346	missense	probably benign	0.03
IGL02064:Acsf3	APN	8	122780247	missense	possibly damaging	0.74
IGL02321:Acsf3	APN	8	122780114	missense	possibly damaging	0.57
IGL02342:Acsf3	APN	8	122817498	missense	probably benign	0.03
R0233:Acsf3	UTSW	8	122780292	missense	probably damaging	1.00
R0233:Acsf3	UTSW	8	122780292	missense	probably damaging	1.00
R0240:Acsf3	UTSW	8	122780181	missense	probably damaging	1.00
R0240:Acsf3	UTSW	8	122780181	missense	probably damaging	1.00
R0566:Acsf3	UTSW	8	122781527	missense	possibly damaging	0.95
R1255:Acsf3	UTSW	8	122785966	critical splice donor site	probably null
R1836:Acsf3	UTSW	8	122780183	missense	probably damaging	0.99
R1886:Acsf3	UTSW	8	122784002	missense	probably damaging	1.00
R1977:Acsf3	UTSW	8	122781533	missense	probably damaging	1.00
R2204:Acsf3	UTSW	8	122813644	missense	probably damaging	0.98
R4735:Acsf3	UTSW	8	122781479	missense	probably damaging	1.00
R4795:Acsf3	UTSW	8	122780157	missense	possibly damaging	0.59
R4850:Acsf3	UTSW	8	122817436	missense	probably damaging	1.00
R5092:Acsf3	UTSW	8	122817392	missense	probably benign	0.12
R5435:Acsf3	UTSW	8	122780281	missense	probably damaging	1.00
R6115:Acsf3	UTSW	8	122790672	missense	probably damaging	1.00
R6147:Acsf3	UTSW	8	122781474	missense	probably damaging	1.00
R6283:Acsf3	UTSW	8	122785955	missense	probably damaging	1.00
R6848:Acsf3	UTSW	8	122790590	missense	probably damaging	1.00
R7268:Acsf3	UTSW	8	122790662	missense	probably benign	0.16
R7291:Acsf3	UTSW	8	122813577	missense	probably benign	0.03
R7319:Acsf3	UTSW	8	122813031	missense	probably damaging	1.00
R7402:Acsf3	UTSW	8	122780424	missense	probably damaging	1.00
R7890:Acsf3	UTSW	8	122785965	critical splice donor site	probably null
R7908:Acsf3	UTSW	8	122785823	missense	probably damaging	0.99
R8058:Acsf3	UTSW	8	122813634	missense	possibly damaging	0.88
R8345:Acsf3	UTSW	8	122781545	missense	probably benign	0.25
R9468:Acsf3	UTSW	8	122813030	missense	probably damaging	1.00
Z1177:Acsf3	UTSW	8	122779964	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TACAGAGGTGGAAATGTGTTGC -3'
(R):5'- GTTTGGAATGAGCACCCTGC -3'

Sequencing Primer
(F):5'- CTGTGTGCACGTAGGGAAG -3'
(R):5'- TCCACCACTCACTCCATGGG -3'

Posted On

2019-09-13