Mutagenetix > Incidental Mutation

Incidental Mutation 'R1400:Acsf2'

160337

Institutional Source

Beutler Lab

Gene Symbol

Acsf2

Ensembl Gene

ENSMUSG00000076435

Gene Name

acyl-CoA synthetase family member 2

Synonyms

MMRRC Submission

039462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94557102-94601871 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94570316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 345 (I345V)

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: I345V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: I345V

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.8%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	G	T	9: 92,351,127	C25F	probably benign	Het
9130008F23Rik	T	C	17: 40,880,304	E78G	probably damaging	Het
Akap11	T	A	14: 78,513,962	K328N	probably damaging	Het
Aoc1	T	A	6: 48,906,283	Y364*	probably null	Het
Aoc1	A	T	6: 48,906,711	Q507L	probably benign	Het
Atp6v1c2	T	C	12: 17,289,130	T207A	probably benign	Het
Atr	C	A	9: 95,862,848	Q73K	probably benign	Het
Cage1	A	G	13: 38,032,424	S17P	possibly damaging	Het
Cfap44	A	T	16: 44,421,212	I649F	probably benign	Het
Cops4	A	G	5: 100,533,546	K200R	probably damaging	Het
Crygd	A	G	1: 65,063,208	S32P	probably damaging	Het
Cyp3a11	A	G	5: 145,862,489	I296T	probably damaging	Het
Fads3	A	G	19: 10,056,300		probably null	Het
Fbn2	T	C	18: 58,080,193	E974G	possibly damaging	Het
Gcgr	A	G	11: 120,534,986	H45R	probably benign	Het
Gcn1l1	T	C	5: 115,614,161	I2112T	probably damaging	Het
Gm43302	A	T	5: 105,274,756	I470N	probably damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Krt13	C	A	11: 100,121,284	G71V	probably damaging	Het
Las1l	T	C	X: 95,946,900	T390A	possibly damaging	Het
Lifr	T	A	15: 7,190,865	V992E	probably benign	Het
Mbd5	T	C	2: 49,274,776		probably null	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Ndst3	A	G	3: 123,556,828	F636S	probably damaging	Het
Necab1	T	C	4: 14,975,185	D232G	possibly damaging	Het
Nlrp4e	A	T	7: 23,321,660	E524V	possibly damaging	Het
Nxf3	T	A	X: 136,076,045	T349S	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1013	T	C	2: 85,770,133	C111R	possibly damaging	Het
Olfr1259	T	A	2: 89,943,542	H191L	possibly damaging	Het
Olfr722	A	T	14: 49,895,691	I37K	possibly damaging	Het
Olfr847	A	G	9: 19,375,062	V273A	probably damaging	Het
Ppm1e	T	A	11: 87,231,766	N455I	probably damaging	Het
Prkag2	G	A	5: 24,873,918	T158I	probably damaging	Het
Ptpn18	T	C	1: 34,463,506		probably null	Het
Rai14	T	G	15: 10,571,548	K936N	probably damaging	Het
Rasgrf2	A	G	13: 91,887,689	L1077P	probably damaging	Het
Rgn	C	A	X: 20,550,457	Q27K	probably benign	Het
Ryr2	C	T	13: 11,595,076	S723N	probably benign	Het
Scamp1	A	G	13: 94,224,947	F142L	possibly damaging	Het
Selenon	A	G	4: 134,551,518	V67A	probably benign	Het
Slc5a5	T	C	8: 70,889,435	I292V	possibly damaging	Het
Smarca2	C	A	19: 26,676,740	T775K	probably damaging	Het
Stab1	C	T	14: 31,139,830	V2437I	possibly damaging	Het
Tas2r143	C	T	6: 42,400,383	A49V	probably benign	Het
Tlr7	T	A	X: 167,307,849	N214Y	probably damaging	Het
Unc13a	C	A	8: 71,651,221	D856Y	probably damaging	Het
Upp2	T	C	2: 58,790,106	Y263H	probably damaging	Het
Vill	T	C	9: 119,063,347	S349P	probably benign	Het
Zfp644	T	C	5: 106,637,470		probably null	Het
Zfp664	T	C	5: 124,886,153	C204R	unknown	Het
Zfp729b	A	G	13: 67,592,794	Y451H	possibly damaging	Het

Other mutations in Acsf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Acsf2	APN	11	94570450	missense	probably benign	0.00
IGL02218:Acsf2	APN	11	94601763	missense	probably benign	0.00
IGL02602:Acsf2	APN	11	94570465	splice site	probably benign
Citrus	UTSW	11	94571650	missense	probably benign	0.11
Cocktail	UTSW	11	94570385	missense	probably benign	0.06
limonene	UTSW	11	94562888	missense	probably damaging	0.99
R0047:Acsf2	UTSW	11	94569342	missense	probably benign	0.01
R0194:Acsf2	UTSW	11	94561370	missense	probably benign	0.00
R1403:Acsf2	UTSW	11	94562874	missense	probably benign	0.11
R1403:Acsf2	UTSW	11	94562874	missense	probably benign	0.11
R1512:Acsf2	UTSW	11	94561398	splice site	probably benign
R2007:Acsf2	UTSW	11	94571640	missense	possibly damaging	0.88
R2271:Acsf2	UTSW	11	94558873	nonsense	probably null
R3610:Acsf2	UTSW	11	94561346	missense	probably benign	0.00
R4447:Acsf2	UTSW	11	94569359	missense	possibly damaging	0.68
R4717:Acsf2	UTSW	11	94559546	missense	probably benign	0.02
R4857:Acsf2	UTSW	11	94569338	missense	probably benign	0.07
R4974:Acsf2	UTSW	11	94569329	missense	possibly damaging	0.77
R5090:Acsf2	UTSW	11	94571269	critical splice donor site	probably null
R5185:Acsf2	UTSW	11	94562911	missense	probably damaging	1.00
R5732:Acsf2	UTSW	11	94569942	unclassified	probably benign
R5797:Acsf2	UTSW	11	94571679	missense	probably damaging	0.98
R5872:Acsf2	UTSW	11	94573149	missense	probably benign	0.16
R6350:Acsf2	UTSW	11	94558330	missense	probably benign	0.12
R6903:Acsf2	UTSW	11	94559591	missense	probably benign	0.03
R6912:Acsf2	UTSW	11	94570380	missense	probably benign
R7336:Acsf2	UTSW	11	94571650	missense	probably benign	0.11
R7531:Acsf2	UTSW	11	94573231	splice site	probably null
R8026:Acsf2	UTSW	11	94562888	missense	probably damaging	0.99
R8231:Acsf2	UTSW	11	94561362	missense	probably benign	0.01
R8355:Acsf2	UTSW	11	94570624	missense	probably benign	0.00
R8486:Acsf2	UTSW	11	94569960	missense	probably damaging	0.98
R8525:Acsf2	UTSW	11	94572620	missense	probably benign	0.21
R8956:Acsf2	UTSW	11	94570385	missense	probably benign	0.06
R9288:Acsf2	UTSW	11	94573218	missense	probably benign	0.04
R9481:Acsf2	UTSW	11	94573218	missense	probably benign	0.04
R9564:Acsf2	UTSW	11	94573065	missense	possibly damaging	0.88
R9620:Acsf2	UTSW	11	94572586	nonsense	probably null
R9671:Acsf2	UTSW	11	94569976	missense	probably benign	0.27
R9742:Acsf2	UTSW	11	94573137	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GGTGCCTCTGCACAAAGAAAGGAC -3'
(R):5'- GAGAACTGGCTGCATGATAGACCC -3'

Sequencing Primer
(F):5'- TCATGAACTCTCAATGAGGGC -3'
(R):5'- TGATAGACCCAGCCTCCTG -3'

Posted On

2014-03-14