Mutagenetix > Incidental Mutation

Incidental Mutation 'R8026:Acsf2'

617726

Institutional Source

Beutler Lab

Gene Symbol

Acsf2

Ensembl Gene

ENSMUSG00000076435

Gene Name

acyl-CoA synthetase family member 2

Synonyms

MMRRC Submission

067465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8026 (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 94453714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 416 (V416M)

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 damaging
Transcript: ENSMUST00000103164
AA Change: V416M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: V416M

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

Meta Mutation Damage Score

0.3473

Coding Region Coverage

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

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,611,723 (GRCm39)	V513A	probably damaging	Het
Adrm1	G	A	2: 179,817,002 (GRCm39)	A225T	unknown	Het
Aldh9a1	T	C	1: 167,180,236 (GRCm39)		probably null	Het
Apbb2	T	C	5: 66,608,987 (GRCm39)	D220G	probably benign	Het
Bace2	T	C	16: 97,238,052 (GRCm39)	V501A	probably benign	Het
Camsap1	T	C	2: 25,828,214 (GRCm39)	N1170S	probably benign	Het
Casr	A	G	16: 36,315,979 (GRCm39)	V697A	probably damaging	Het
Clcn1	T	C	6: 42,284,595 (GRCm39)		probably null	Het
Cobl	T	C	11: 12,203,459 (GRCm39)	K1081R	probably benign	Het
Ctr9	T	A	7: 110,633,099 (GRCm39)	L116I	probably damaging	Het
Dennd4a	T	C	9: 64,780,312 (GRCm39)	F616S	probably damaging	Het
Dynlt1a	C	T	17: 6,362,089 (GRCm39)	G30S	possibly damaging	Het
Eif1	T	C	11: 100,211,274 (GRCm39)	S23P	possibly damaging	Het
Eml6	A	C	11: 29,699,973 (GRCm39)	L1721R	possibly damaging	Het
Fscb	A	G	12: 64,521,049 (GRCm39)	I139T	probably benign	Het
Fstl4	A	G	11: 52,959,496 (GRCm39)	E179G	probably damaging	Het
Fuom	T	C	7: 139,680,067 (GRCm39)	T95A		Het
Gigyf1	C	T	5: 137,523,740 (GRCm39)	H1001Y	probably damaging	Het
Gm21886	T	A	18: 80,132,961 (GRCm39)	S66C	probably damaging	Het
Helz2	G	A	2: 180,881,998 (GRCm39)	T265I	probably benign	Het
Hs6st3	G	T	14: 120,106,968 (GRCm39)	V459F	probably damaging	Het
Ido2	A	G	8: 25,025,156 (GRCm39)		probably null	Het
Idua	A	G	5: 108,818,115 (GRCm39)	I96V	probably benign	Het
Iftap	A	T	2: 101,400,989 (GRCm39)		probably benign	Het
Inpp5j	A	G	11: 3,445,171 (GRCm39)	S494P		Het
Krt19	A	G	11: 100,032,209 (GRCm39)	V285A	probably damaging	Het
Krt71	T	G	15: 101,646,817 (GRCm39)	D297A	possibly damaging	Het
L3hypdh	G	A	12: 72,131,723 (GRCm39)	R70C	probably damaging	Het
Masp1	T	C	16: 23,303,156 (GRCm39)	Y324C	probably damaging	Het
Mfap2	A	G	4: 140,741,114 (GRCm39)	D25G	possibly damaging	Het
Mmp17	G	A	5: 129,672,148 (GRCm39)		probably null	Het
Mroh7	G	A	4: 106,578,634 (GRCm39)	P15S	probably benign	Het
Muc5b	T	A	7: 141,417,373 (GRCm39)	C3440S	probably benign	Het
Naip5	C	A	13: 100,382,406 (GRCm39)	S101I	probably damaging	Het
Neb	A	T	2: 52,113,060 (GRCm39)	Y1066N		Het
Nop56	T	A	2: 130,119,188 (GRCm39)	C38S	probably benign	Het
Nup214	T	A	2: 31,923,362 (GRCm39)	L1297Q	possibly damaging	Het
Oasl2	C	A	5: 115,040,329 (GRCm39)		probably benign	Het
Or4a70	A	G	2: 89,324,132 (GRCm39)	F175L	probably damaging	Het
Or4c58	T	C	2: 89,675,273 (GRCm39)	N15D	probably benign	Het
Or51b4	A	G	7: 103,530,904 (GRCm39)	V182A	possibly damaging	Het
Or52a5	T	A	7: 103,427,547 (GRCm39)	I2F	probably benign	Het
Or5h24	T	C	16: 58,918,731 (GRCm39)	H208R	unknown	Het
Or8g4	T	C	9: 39,662,092 (GRCm39)	S137P	possibly damaging	Het
Pacrg	C	T	17: 10,795,496 (GRCm39)	V155I	probably benign	Het
Patz1	A	T	11: 3,257,658 (GRCm39)	M96L	probably benign	Het
Pcca	A	G	14: 122,875,794 (GRCm39)	D141G	probably benign	Het
Ptprr	A	G	10: 115,884,075 (GRCm39)	Y44C	probably damaging	Het
Rad51ap1	A	G	6: 126,911,675 (GRCm39)		probably null	Het
Raet1e	A	C	10: 22,057,198 (GRCm39)	D174A	probably damaging	Het
Rhobtb2	T	G	14: 70,034,214 (GRCm39)	D337A	probably benign	Het
Sbf2	T	C	7: 109,934,594 (GRCm39)	K1377E	probably damaging	Het
Sh3pxd2b	A	G	11: 32,361,567 (GRCm39)	K260E	probably damaging	Het
Slc4a8	A	T	15: 100,685,170 (GRCm39)	I234F	possibly damaging	Het
Srgap3	C	T	6: 112,716,325 (GRCm39)	R625H	probably benign	Het
Tbxas1	C	T	6: 39,004,830 (GRCm39)	T359I	probably benign	Het
Trim9	T	A	12: 70,337,161 (GRCm39)	S309C	probably benign	Het
Ttn	G	A	2: 76,659,483 (GRCm39)	P12191S	unknown	Het
Unc80	A	G	1: 66,522,463 (GRCm39)	R222G	possibly damaging	Het
Vmn1r202	A	T	13: 22,686,314 (GRCm39)	H34Q	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,141 (GRCm39)	N251K	probably benign	Het
Vmn2r67	A	T	7: 84,785,924 (GRCm39)	Y694N	probably damaging	Het
Vwde	A	G	6: 13,205,782 (GRCm39)	F255S	probably benign	Het
Zfp532	T	G	18: 65,758,227 (GRCm39)	I720R	possibly damaging	Het
Zfp819	A	G	7: 43,267,319 (GRCm39)	T601A	probably benign	Het
Zfp853	G	T	5: 143,274,280 (GRCm39)	Q462K	unknown	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
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
R9288:Acsf2	UTSW	11	94,464,044 (GRCm39)	missense	probably benign	0.04
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'- CAAGACAGACAGTGGGCTTG -3'
(R):5'- AGCTGCACTTCTGGCTTCTG -3'

Sequencing Primer
(F):5'- TGGGCTTGGCAAAAACACAC -3'
(R):5'- TGGCTTCTGACCTCTGGC -3'

Posted On

2020-01-23