Mutagenetix > Incidental Mutations

Incidental Mutation 'R5435:Acsf3'

428267

Institutional Source

Beutler Lab

Gene Symbol

Acsf3

Ensembl Gene

ENSMUSG00000015016

Gene Name

acyl-CoA synthetase family member 3

Synonyms

MMRRC Submission

043000-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122775486-122817880 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122780281 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 104 (N104K)

Ref Sequence

ENSEMBL: ENSMUSP00000148762 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000015160
AA Change: N104K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: N104K

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: N104K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212790
AA Change: N104K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212903

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,741,250		probably benign	Het
3425401B19Rik	A	G	14: 32,661,456	F851L	probably benign	Het
Abca17	C	T	17: 24,267,614	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,615,869	Y491*	probably null	Het
Adam23	T	C	1: 63,546,453	Y400H	possibly damaging	Het
Adgra3	G	A	5: 49,990,126	T524M	probably damaging	Het
Aff1	G	A	5: 103,754,332		probably benign	Het
Anxa9	T	C	3: 95,297,250	Y321C	probably damaging	Het
Ap1g1	T	A	8: 109,838,920	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,834,501	I33N	possibly damaging	Het
B3galnt2	A	G	13: 13,996,990	E491G	probably benign	Het
Bdh1	C	T	16: 31,456,657	R235C	probably damaging	Het
Ccar2	A	G	14: 70,139,327	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519	D30V	probably damaging	Het
Ccdc116	G	T	16: 17,142,762	H64N	probably benign	Het
Ccl12	T	C	11: 82,103,175	I86T	possibly damaging	Het
Col2a1	T	C	15: 98,000,510		probably benign	Het
Col4a4	T	A	1: 82,454,007	I1519F	unknown	Het
Ddx19b	T	C	8: 111,008,826	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,060,138	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,606,610	I119F	probably damaging	Het
Ensa	C	A	3: 95,622,458		probably benign	Het
Fbxo4	C	T	15: 3,965,792	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxf1	G	A	8: 121,084,492	G32S	probably damaging	Het
Gls2	G	A	10: 128,195,126		probably benign	Het
Gm13599	T	A	2: 67,396,152		noncoding transcript	Het
Gmnn	A	G	13: 24,752,101	S197P	probably benign	Het
Guf1	A	T	5: 69,563,169	H324L	probably benign	Het
H2-Q6	A	G	17: 35,425,685	D150G	probably damaging	Het
Herc3	T	A	6: 58,855,806	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,820,318	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,597,663	F46L	probably benign	Het
Kank1	T	G	19: 25,411,143	S727A	probably benign	Het
Kcnma1	A	T	14: 23,528,404	Y201*	probably null	Het
Lyst	A	T	13: 13,777,064	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,779,586		probably null	Het
Mpdz	A	G	4: 81,283,487		probably benign	Het
Myh9	C	T	15: 77,769,609	V1280I	probably benign	Het
Neto1	A	T	18: 86,398,263	T32S	probably benign	Het
Nol7	C	A	13: 43,401,372	H187Q	possibly damaging	Het
Olfr992	T	A	2: 85,400,470	N21I	probably benign	Het
Pcdha8	A	G	18: 36,993,599	D378G	probably damaging	Het
Peak1	A	G	9: 56,206,486	S694P	probably damaging	Het
Pih1d1	T	A	7: 45,156,272		probably null	Het
Pik3c2g	T	G	6: 139,715,855		probably null	Het
Prkar2a	A	G	9: 108,740,483	R247G	probably damaging	Het
Psg26	A	G	7: 18,478,473	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,631,811	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,494,275	H304Q	probably damaging	Het
Scn1a	T	A	2: 66,273,534	E1783V	probably damaging	Het
Stag1	A	G	9: 100,953,550	N151S	probably benign	Het
Tbc1d32	C	A	10: 56,040,150	A1191S	probably damaging	Het
Tchh	C	A	3: 93,443,672	R140S	possibly damaging	Het
Trank1	A	G	9: 111,391,890	Y2565C	probably benign	Het
Ttn	A	T	2: 76,914,358	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,996,072	P893S	possibly damaging	Het
Wdfy4	A	G	14: 33,020,311	F2325S	probably damaging	Het
Wdr35	A	G	12: 8,989,951	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Ypel3	A	G	7: 126,775,788		probably benign	Het
Zan	T	A	5: 137,403,762	T4023S	unknown	Het
Zfp735	T	A	11: 73,712,113	C628S	possibly damaging	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
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
R7350:Acsf3	UTSW	8	122785946	missense	probably benign	0.00
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
Z1177:Acsf3	UTSW	8	122779964	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAGTGTCCCGGTATTCATC -3'
(R):5'- TGTTGCTCCATGGTAGACGG -3'

Sequencing Primer
(F):5'- GGTATTCATCCGTGCCCTGG -3'
(R):5'- TCCATGGTAGACGGCAGGC -3'

Posted On

2016-09-01