Mutagenetix > Incidental Mutation

Incidental Mutation 'R9288:Acsf2'

704098

Institutional Source

Beutler Lab

Gene Symbol

Acsf2

Ensembl Gene

ENSMUSG00000076435

Gene Name

acyl-CoA synthetase family member 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9288 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94447928-94492697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94464044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 47 (V47M)

Ref Sequence

ENSEMBL: ENSMUSP00000099453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040418] [ENSMUST00000103164]

AlphaFold

Q8VCW8

Predicted Effect

probably benign
Transcript: ENSMUST00000040418

SMART Domains

Protein: ENSMUSP00000047844
Gene: ENSMUSG00000039084

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LRRNT	21	54	1.7e-7	SMART
LRR_TYP	73	96	9.58e-3	SMART
LRR_TYP	97	120	1.45e-2	SMART
LRR_TYP	121	144	1.69e-3	SMART
LRR_TYP	145	168	6.42e-4	SMART
LRR	170	192	2.2e1	SMART
LRR	193	216	2.14e1	SMART
LRR_TYP	217	240	4.17e-3	SMART
LRR	245	265	2.27e2	SMART
LRR	266	289	3.36e1	SMART
LRRCT	299	346	1.1e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103164
AA Change: V47M

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: V47M

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	78	516	3.9e-100	PFAM
Pfam:AMP-binding_C	524	599	1.7e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

MGI Phenotype

PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,704,444 (GRCm39)	D66G	probably benign	Het
Acot7	T	A	4: 152,291,263 (GRCm39)	H76Q	probably damaging	Het
Agmat	T	C	4: 141,474,391 (GRCm39)	S91P	probably damaging	Het
Apba1	A	G	19: 23,923,145 (GRCm39)	*843W	probably null	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,051,368 (GRCm39)	I437T	possibly damaging	Het
Bbs12	C	T	3: 37,374,712 (GRCm39)	L387F	probably damaging	Het
BC028528	T	C	3: 95,799,227 (GRCm39)	I6V	probably benign	Het
C6	A	C	15: 4,835,532 (GRCm39)	K770T		Het
Cacna1g	T	A	11: 94,308,897 (GRCm39)	K1669*	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cit	C	T	5: 116,123,512 (GRCm39)	T1436I	probably damaging	Het
Col14a1	T	A	15: 55,286,918 (GRCm39)	V913E	unknown	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Eml6	T	G	11: 29,788,641 (GRCm39)		probably null	Het
Epb41l2	A	G	10: 25,355,653 (GRCm39)	T486A	possibly damaging	Het
Fbln5	A	T	12: 101,734,728 (GRCm39)	C181*	probably null	Het
Flnb	A	C	14: 7,904,498 (GRCm38)	D967A	probably benign	Het
Glyatl3	A	G	17: 41,221,016 (GRCm39)	V117A	probably benign	Het
Gm4553	GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA	GCAGCCCCCACAGGA	7: 141,719,025 (GRCm39)		probably benign	Het
Gpa33	G	A	1: 165,980,304 (GRCm39)	M122I	probably benign	Het
Gtf2ird2	A	G	5: 134,221,571 (GRCm39)	E58G	possibly damaging	Het
Hdlbp	T	C	1: 93,336,773 (GRCm39)	E1125G	probably benign	Het
Hook1	C	T	4: 95,901,505 (GRCm39)	R488C	probably damaging	Het
Isx	G	T	8: 75,619,439 (GRCm39)	A197S	probably benign	Het
Klhl10	G	T	11: 100,347,719 (GRCm39)	A592S	probably benign	Het
Kmt2c	A	T	5: 25,497,907 (GRCm39)	D3949E	probably damaging	Het
Kmt2c	A	T	5: 25,554,860 (GRCm39)	I1258K	probably benign	Het
Lpin3	C	A	2: 160,745,552 (GRCm39)	N618K	probably damaging	Het
Lrrc9	T	A	12: 72,522,858 (GRCm39)	D701E	probably benign	Het
Mex3a	T	A	3: 88,443,458 (GRCm39)	M178K	possibly damaging	Het
Mex3b	T	C	7: 82,518,159 (GRCm39)	V158A	probably benign	Het
Myh7	A	T	14: 55,222,932 (GRCm39)	F758I	probably benign	Het
Neb	T	G	2: 52,051,403 (GRCm39)	N6626H	probably damaging	Het
Nkd2	G	T	13: 73,995,177 (GRCm39)		probably benign	Het
Nsmaf	T	C	4: 6,414,976 (GRCm39)	K630R	probably benign	Het
Obscn	A	T	11: 58,976,049 (GRCm39)	F2026Y	probably benign	Het
Olr1	T	C	6: 129,470,202 (GRCm39)		probably benign	Het
Osbpl1a	A	G	18: 12,904,402 (GRCm39)	L589P	probably damaging	Het
Pcsk5	T	C	19: 17,814,345 (GRCm39)	K58E	probably benign	Het
Poll	T	C	19: 45,547,281 (GRCm39)	I64V	probably benign	Het
Prdm10	A	G	9: 31,252,674 (GRCm39)	E469G	possibly damaging	Het
Ptprb	T	A	10: 116,155,353 (GRCm39)	N415K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rft1	A	T	14: 30,383,415 (GRCm39)	K152*	probably null	Het
Rnf180	CGAGG	CGAGGAGG	13: 105,386,781 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sfpq	T	C	4: 126,916,627 (GRCm39)	S275P	probably damaging	Het
Slit1	A	T	19: 41,613,144 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,952,927 (GRCm39)	F705L	probably damaging	Het
Spata17	A	G	1: 186,844,756 (GRCm39)	V281A	possibly damaging	Het
Sulf1	G	A	1: 12,856,827 (GRCm39)	R26Q	probably benign	Het
Tbc1d4	T	C	14: 101,692,308 (GRCm39)	Y1052C	probably damaging	Het
Tgfbr2	T	C	9: 115,939,149 (GRCm39)	D251G	probably benign	Het
Tmem88b	A	T	4: 155,868,733 (GRCm39)	W172R	probably damaging	Het
Vdac2	C	A	14: 21,881,962 (GRCm39)	P7T	probably benign	Het
Vmn2r112	A	G	17: 22,822,323 (GRCm39)	K334E	probably damaging	Het
Vmn2r8	A	T	5: 108,950,185 (GRCm39)	S221T	probably benign	Het
Zfp608	G	T	18: 55,033,341 (GRCm39)	N397K	probably benign	Het

Other mutations in Acsf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Acsf2	APN	11	94,461,276 (GRCm39)	missense	probably benign	0.00
IGL02218:Acsf2	APN	11	94,492,589 (GRCm39)	missense	probably benign	0.00
IGL02602:Acsf2	APN	11	94,461,291 (GRCm39)	splice site	probably benign
Citrus	UTSW	11	94,462,476 (GRCm39)	missense	probably benign	0.11
Cocktail	UTSW	11	94,461,211 (GRCm39)	missense	probably benign	0.06
limonene	UTSW	11	94,453,714 (GRCm39)	missense	probably damaging	0.99
R0047:Acsf2	UTSW	11	94,460,168 (GRCm39)	missense	probably benign	0.01
R0194:Acsf2	UTSW	11	94,452,196 (GRCm39)	missense	probably benign	0.00
R1400:Acsf2	UTSW	11	94,461,142 (GRCm39)	missense	probably benign	0.07
R1403:Acsf2	UTSW	11	94,453,700 (GRCm39)	missense	probably benign	0.11
R1403:Acsf2	UTSW	11	94,453,700 (GRCm39)	missense	probably benign	0.11
R1512:Acsf2	UTSW	11	94,452,224 (GRCm39)	splice site	probably benign
R2007:Acsf2	UTSW	11	94,462,466 (GRCm39)	missense	possibly damaging	0.88
R2271:Acsf2	UTSW	11	94,449,699 (GRCm39)	nonsense	probably null
R3610:Acsf2	UTSW	11	94,452,172 (GRCm39)	missense	probably benign	0.00
R4447:Acsf2	UTSW	11	94,460,185 (GRCm39)	missense	possibly damaging	0.68
R4717:Acsf2	UTSW	11	94,450,372 (GRCm39)	missense	probably benign	0.02
R4857:Acsf2	UTSW	11	94,460,164 (GRCm39)	missense	probably benign	0.07
R4974:Acsf2	UTSW	11	94,460,155 (GRCm39)	missense	possibly damaging	0.77
R5090:Acsf2	UTSW	11	94,462,095 (GRCm39)	critical splice donor site	probably null
R5185:Acsf2	UTSW	11	94,453,737 (GRCm39)	missense	probably damaging	1.00
R5732:Acsf2	UTSW	11	94,460,768 (GRCm39)	unclassified	probably benign
R5797:Acsf2	UTSW	11	94,462,505 (GRCm39)	missense	probably damaging	0.98
R5872:Acsf2	UTSW	11	94,463,975 (GRCm39)	missense	probably benign	0.16
R6350:Acsf2	UTSW	11	94,449,156 (GRCm39)	missense	probably benign	0.12
R6903:Acsf2	UTSW	11	94,450,417 (GRCm39)	missense	probably benign	0.03
R6912:Acsf2	UTSW	11	94,461,206 (GRCm39)	missense	probably benign
R7336:Acsf2	UTSW	11	94,462,476 (GRCm39)	missense	probably benign	0.11
R7531:Acsf2	UTSW	11	94,464,057 (GRCm39)	splice site	probably null
R8026:Acsf2	UTSW	11	94,453,714 (GRCm39)	missense	probably damaging	0.99
R8231:Acsf2	UTSW	11	94,452,188 (GRCm39)	missense	probably benign	0.01
R8355:Acsf2	UTSW	11	94,461,450 (GRCm39)	missense	probably benign	0.00
R8486:Acsf2	UTSW	11	94,460,786 (GRCm39)	missense	probably damaging	0.98
R8525:Acsf2	UTSW	11	94,463,446 (GRCm39)	missense	probably benign	0.21
R8956:Acsf2	UTSW	11	94,461,211 (GRCm39)	missense	probably benign	0.06
R9481:Acsf2	UTSW	11	94,464,044 (GRCm39)	missense	probably benign	0.04
R9564:Acsf2	UTSW	11	94,463,891 (GRCm39)	missense	possibly damaging	0.88
R9620:Acsf2	UTSW	11	94,463,412 (GRCm39)	nonsense	probably null
R9671:Acsf2	UTSW	11	94,460,802 (GRCm39)	missense	probably benign	0.27
R9742:Acsf2	UTSW	11	94,463,963 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GCAAAGTTCAGCCTGATGTTTTC -3'
(R):5'- AGTTCAAGCTCCTGCAAAGAATG -3'

Sequencing Primer
(F):5'- CCTGATGTTTTCATGGAGGATAACC -3'
(R):5'- GGGAATACAGTAGACCTTCTCTCTG -3'

Posted On

2022-03-25