Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Acsf2'

32981

Institutional Source

Beutler Lab

Gene Symbol

Acsf2

Ensembl Gene

ENSMUSG00000076435

Gene Name

acyl-CoA synthetase family member 2

Synonyms

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0047 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

94447928-94492697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94460168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 395 (I395V)

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: I395V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: I395V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155122

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,025 (GRCm39)	T405A	probably damaging	Het
Acer1	A	T	17: 57,262,624 (GRCm39)	D175E	possibly damaging	Het
Adamts9	G	A	6: 92,882,287 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,857 (GRCm39)	S427P	probably benign	Het
Ankrd35	A	G	3: 96,591,379 (GRCm39)	K555R	probably benign	Het
Arhgap35	A	T	7: 16,295,917 (GRCm39)	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,242,555 (GRCm39)		probably null	Het
Arid4a	T	G	12: 71,122,193 (GRCm39)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,098,647 (GRCm39)	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,109,733 (GRCm39)	L261P	probably damaging	Het
Bltp1	T	A	3: 36,962,341 (GRCm39)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,317,982 (GRCm39)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,068,747 (GRCm39)		probably benign	Het
Camk2g	G	A	14: 20,821,136 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,589,812 (GRCm39)		probably null	Het
Cdkl4	T	G	17: 80,858,274 (GRCm39)	N115T	probably benign	Het
Chchd1	T	C	14: 20,754,231 (GRCm39)	S48P	possibly damaging	Het
Chia1	G	T	3: 106,022,573 (GRCm39)	C49F	probably damaging	Het
Cnot7	A	G	8: 40,948,962 (GRCm39)		probably benign	Het
Crh	T	C	3: 19,748,201 (GRCm39)	E147G	probably damaging	Het
Cux1	T	C	5: 136,392,107 (GRCm39)		probably benign	Het
Cyp2b19	T	A	7: 26,466,251 (GRCm39)	D351E	probably benign	Het
Dctn1	G	T	6: 83,159,614 (GRCm39)	G31*	probably null	Het
Duox1	T	A	2: 122,177,122 (GRCm39)		probably benign	Het
Egflam	T	G	15: 7,282,911 (GRCm39)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,208,542 (GRCm39)	N73S	probably benign	Het
Ffar4	A	G	19: 38,102,452 (GRCm39)		probably benign	Het
Glg1	A	T	8: 111,892,214 (GRCm39)	M866K	probably damaging	Het
Golm1	T	A	13: 59,792,914 (GRCm39)	H197L	probably benign	Het
Gtse1	A	G	15: 85,746,579 (GRCm39)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,710,339 (GRCm39)		probably benign	Het
Hrc	T	A	7: 44,986,113 (GRCm39)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,251,788 (GRCm39)		probably benign	Het
Ihh	A	G	1: 74,985,750 (GRCm39)	I245T	probably benign	Het
Ilf3	T	A	9: 21,300,010 (GRCm39)	M65K	possibly damaging	Het
Insr	A	G	8: 3,252,947 (GRCm39)	V404A	probably damaging	Het
Irak2	G	T	6: 113,649,914 (GRCm39)		probably benign	Het
Irak2	G	A	6: 113,655,699 (GRCm39)	V367I	probably benign	Het
Kat7	A	C	11: 95,191,034 (GRCm39)	N119K	probably benign	Het
Kif9	A	G	9: 110,314,106 (GRCm39)	I33V	probably benign	Het
Klf17	A	G	4: 117,618,229 (GRCm39)	Y43H	probably benign	Het
Kng2	T	A	16: 22,806,313 (GRCm39)	T629S	possibly damaging	Het
Lama1	A	T	17: 68,102,181 (GRCm39)		probably benign	Het
Lamb1	T	C	12: 31,328,600 (GRCm39)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,480,550 (GRCm39)		probably benign	Het
Lrp12	T	C	15: 39,741,635 (GRCm39)	E360G	probably damaging	Het
Mark2	A	C	19: 7,260,942 (GRCm39)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,928,727 (GRCm39)		probably benign	Het
Mtr	A	T	13: 12,237,112 (GRCm39)	S569T	probably damaging	Het
Myh13	T	A	11: 67,258,063 (GRCm39)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,063,489 (GRCm39)	L565H	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,300,814 (GRCm39)	L72*	probably null	Het
Numa1	A	G	7: 101,658,660 (GRCm39)	K296E	probably damaging	Het
Obi1	T	A	14: 104,740,780 (GRCm39)		probably null	Het
Or51ab3	A	T	7: 103,201,529 (GRCm39)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,089,574 (GRCm39)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,479,953 (GRCm39)	E82G	probably benign	Het
Or5h18	T	A	16: 58,847,587 (GRCm39)	M228L	probably benign	Het
Or5p80	A	G	7: 108,229,759 (GRCm39)	I187V	probably benign	Het
Pcdhb5	A	T	18: 37,454,321 (GRCm39)	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,661,920 (GRCm39)	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,470,901 (GRCm39)		probably benign	Het
Pnpla7	A	T	2: 24,901,618 (GRCm39)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,073,895 (GRCm39)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,772,873 (GRCm39)	R117*	probably null	Het
Rabgap1l	G	A	1: 160,059,359 (GRCm39)		probably benign	Het
Rapgef6	T	A	11: 54,437,204 (GRCm39)	M49K	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Rtel1	T	G	2: 180,965,198 (GRCm39)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,739,541 (GRCm39)	M219L	probably benign	Het
Serpina3g	T	A	12: 104,206,543 (GRCm39)	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 33,034,259 (GRCm39)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,264,297 (GRCm39)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm39)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,227,068 (GRCm39)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,076,874 (GRCm39)		probably benign	Het
Snx13	C	A	12: 35,151,123 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,494,402 (GRCm39)	A828T	probably damaging	Het
Spic	A	G	10: 88,511,803 (GRCm39)	L151P	probably damaging	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,446,443 (GRCm39)		probably benign	Het
Tbx3	A	T	5: 119,818,511 (GRCm39)	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,606,547 (GRCm39)	I469T	probably benign	Het
Tln2	A	G	9: 67,147,954 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,888,682 (GRCm39)	I1260L	probably benign	Het
Treml1	C	A	17: 48,672,008 (GRCm39)	S91*	probably null	Het
Trim26	T	C	17: 37,168,756 (GRCm39)		probably benign	Het
Trmt11	T	C	10: 30,411,239 (GRCm39)	N418S	probably benign	Het
Ttf1	A	G	2: 28,974,667 (GRCm39)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,414,403 (GRCm39)	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,460,858 (GRCm39)	V728A	probably benign	Het
Vps4a	T	C	8: 107,763,333 (GRCm39)	L29P	probably damaging	Het
Wdfy3	A	G	5: 102,091,899 (GRCm39)	I480T	probably damaging	Het
Wdr41	A	G	13: 95,146,795 (GRCm39)	I197V	probably damaging	Het
Ywhag	A	T	5: 135,940,153 (GRCm39)	V147E	probably damaging	Het
Zan	A	G	5: 137,401,918 (GRCm39)	M4058T	unknown	Het
Zfp236	C	T	18: 82,698,817 (GRCm39)	C88Y	probably damaging	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
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
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'- TGCCAGGACATGCTACCAGGATAC -3'
(R):5'- TGGGCCAACCTCAGCTTTTACG -3'

Sequencing Primer
(F):5'- GCTACCAGGATACCAGTAGCG -3'
(R):5'- ctctgtctgtctgtctctgtc -3'

Posted On

2013-05-09