Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123502225-123544619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123507020 bp (GRCm39)

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]

AlphaFold

Q3URE1

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
3425401B19Rik	A	G	14: 32,383,413 (GRCm39)	F851L	probably benign	Het
Abca17	C	T	17: 24,486,588 (GRCm39)	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,523,153 (GRCm39)	Y491*	probably null	Het
Adam23	T	C	1: 63,585,612 (GRCm39)	Y400H	possibly damaging	Het
Adgra3	G	A	5: 50,147,468 (GRCm39)	T524M	probably damaging	Het
Aff1	G	A	5: 103,902,198 (GRCm39)		probably benign	Het
Anxa9	T	C	3: 95,204,561 (GRCm39)	Y321C	probably damaging	Het
Ap1g1	T	A	8: 110,565,552 (GRCm39)	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,741,783 (GRCm39)	I33N	possibly damaging	Het
B3galnt2	A	G	13: 14,171,575 (GRCm39)	E491G	probably benign	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
Ccar2	A	G	14: 70,376,776 (GRCm39)	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519 (GRCm39)	D30V	probably damaging	Het
Ccdc116	G	T	16: 16,960,626 (GRCm39)	H64N	probably benign	Het
Ccl12	T	C	11: 81,994,001 (GRCm39)	I86T	possibly damaging	Het
Col2a1	T	C	15: 97,898,391 (GRCm39)		probably benign	Het
Col4a4	T	A	1: 82,431,728 (GRCm39)	I1519F	unknown	Het
Ddx19b	T	C	8: 111,735,458 (GRCm39)	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,037,121 (GRCm39)	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,463,807 (GRCm39)	I119F	probably damaging	Het
Ensa	C	A	3: 95,529,769 (GRCm39)		probably benign	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxf1	G	A	8: 121,811,231 (GRCm39)	G32S	probably damaging	Het
Gls2	G	A	10: 128,030,995 (GRCm39)		probably benign	Het
Gm13599	T	A	2: 67,226,496 (GRCm39)		noncoding transcript	Het
Gmnn	A	G	13: 24,936,084 (GRCm39)	S197P	probably benign	Het
Guf1	A	T	5: 69,720,512 (GRCm39)	H324L	probably benign	Het
H2-Q6	A	G	17: 35,644,661 (GRCm39)	D150G	probably damaging	Het
Herc3	T	A	6: 58,832,791 (GRCm39)	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,797,682 (GRCm39)	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,561,283 (GRCm39)	F46L	probably benign	Het
Kank1	T	G	19: 25,388,507 (GRCm39)	S727A	probably benign	Het
Kcnma1	A	T	14: 23,578,472 (GRCm39)	Y201*	probably null	Het
Lyst	A	T	13: 13,951,649 (GRCm39)	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,615,447 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,201,724 (GRCm39)		probably benign	Het
Myh9	C	T	15: 77,653,809 (GRCm39)	V1280I	probably benign	Het
Neto1	A	T	18: 86,416,388 (GRCm39)	T32S	probably benign	Het
Nol7	C	A	13: 43,554,848 (GRCm39)	H187Q	possibly damaging	Het
Or5ak22	T	A	2: 85,230,814 (GRCm39)	N21I	probably benign	Het
Pcdha8	A	G	18: 37,126,652 (GRCm39)	D378G	probably damaging	Het
Peak1	A	G	9: 56,113,770 (GRCm39)	S694P	probably damaging	Het
Pih1d1	T	A	7: 44,805,696 (GRCm39)		probably null	Het
Pik3c2g	T	G	6: 139,661,581 (GRCm39)		probably null	Het
Prkar2a	A	G	9: 108,617,682 (GRCm39)	R247G	probably damaging	Het
Psg26	A	G	7: 18,212,398 (GRCm39)	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,681,811 (GRCm39)	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,422,013 (GRCm39)	H304Q	probably damaging	Het
Relch	T	A	1: 105,668,975 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,103,878 (GRCm39)	E1783V	probably damaging	Het
Stag1	A	G	9: 100,835,603 (GRCm39)	N151S	probably benign	Het
Tbc1d32	C	A	10: 55,916,246 (GRCm39)	A1191S	probably damaging	Het
Tchh	C	A	3: 93,350,979 (GRCm39)	R140S	possibly damaging	Het
Trank1	A	G	9: 111,220,958 (GRCm39)	Y2565C	probably benign	Het
Ttn	A	T	2: 76,744,702 (GRCm39)	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,575,985 (GRCm39)	P893S	possibly damaging	Het
Wdfy4	A	G	14: 32,742,268 (GRCm39)	F2325S	probably damaging	Het
Wdr35	A	G	12: 9,039,951 (GRCm39)	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Ypel3	A	G	7: 126,374,960 (GRCm39)		probably benign	Het
Zan	T	A	5: 137,402,024 (GRCm39)	T4023S	unknown	Het
Zfp735	T	A	11: 73,602,939 (GRCm39)	C628S	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
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
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'- GGAGTGTCCCGGTATTCATC -3'
(R):5'- TGTTGCTCCATGGTAGACGG -3'

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

Posted On

2016-09-01