Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Acsf2'

569519

Institutional Source

Beutler Lab

Gene Symbol

Acsf2

Ensembl Gene

ENSMUSG00000076435

Gene Name

acyl-CoA synthetase family member 2

Synonyms

MMRRC Submission

045426-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94447928-94492697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 94462476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 180 (Q180E)

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: Q180E

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: Q180E

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

0.0679

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	G	A	3: 59,840,174 (GRCm39)		probably null	Het
Abca15	A	T	7: 119,987,456 (GRCm39)	Q1247H	possibly damaging	Het
Adamts8	A	G	9: 30,873,363 (GRCm39)	D856G	probably benign	Het
Agrn	A	T	4: 156,259,371 (GRCm39)	C828*	probably null	Het
Ankub1	T	C	3: 57,573,108 (GRCm39)	T205A	probably benign	Het
Atm	A	T	9: 53,373,803 (GRCm39)	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,799,855 (GRCm39)	F257L	probably benign	Het
Bcat2	T	A	7: 45,224,909 (GRCm39)	C27S	probably benign	Het
Bod1l	G	A	5: 41,978,867 (GRCm39)	R816C	probably damaging	Het
Btg3	A	G	16: 78,161,695 (GRCm39)	Y172H	probably benign	Het
Cacna1d	T	C	14: 29,767,239 (GRCm39)	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,406,026 (GRCm39)	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,508,110 (GRCm39)	V646A	probably benign	Het
Ccp110	C	T	7: 118,321,433 (GRCm39)	P363S	probably damaging	Het
Cct4	C	A	11: 22,951,564 (GRCm39)	T377K	possibly damaging	Het
Cemip2	C	A	19: 21,803,509 (GRCm39)	Y847*	probably null	Het
Cep350	T	A	1: 155,738,022 (GRCm39)	H2607L	probably benign	Het
Cfap46	A	G	7: 139,200,020 (GRCm39)	F1954L	unknown	Het
Chat	C	T	14: 32,145,213 (GRCm39)		probably null	Het
Clasp2	A	G	9: 113,705,421 (GRCm39)		probably null	Het
Cldn9	T	C	17: 23,901,989 (GRCm39)	D212G	probably benign	Het
Cp	G	A	3: 20,018,696 (GRCm39)		probably null	Het
Cyfip1	T	A	7: 55,576,148 (GRCm39)	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,625,299 (GRCm39)	D4060G	probably damaging	Het
Dpyd	A	G	3: 118,858,570 (GRCm39)	T595A	probably damaging	Het
Eps8	G	A	6: 137,486,211 (GRCm39)	R434C	possibly damaging	Het
Fasl	A	G	1: 161,615,557 (GRCm39)	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,826,712 (GRCm39)	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,478,025 (GRCm39)	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,825,653 (GRCm39)	N102S	probably damaging	Het
Gm2381	T	C	7: 42,471,804 (GRCm39)	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,498,237 (GRCm39)	K269N	probably damaging	Het
Icosl	C	A	10: 77,909,707 (GRCm39)	Y217*	probably null	Het
Il17rd	G	T	14: 26,809,503 (GRCm39)	R153L	probably benign	Het
Kif17	C	A	4: 138,025,617 (GRCm39)	T973K	possibly damaging	Het
Klk1b16	A	G	7: 43,790,907 (GRCm39)	I236M	probably benign	Het
Lgmn	G	A	12: 102,389,998 (GRCm39)		probably benign	Het
Lmbr1l	T	C	15: 98,811,468 (GRCm39)	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,584,474 (GRCm39)	I196N	possibly damaging	Het
Maml1	C	T	11: 50,157,276 (GRCm39)	A300T	possibly damaging	Het
Mapkap1	A	T	2: 34,423,829 (GRCm39)	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,315,568 (GRCm39)	T69A	probably benign	Het
Mlph	G	A	1: 90,849,705 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,111,435 (GRCm39)	M1625L	probably benign	Het
Myh3	G	T	11: 66,981,847 (GRCm39)	R781L	probably benign	Het
Nckap5	A	T	1: 125,953,786 (GRCm39)	I922K	probably benign	Het
Nlrp5	T	A	7: 23,117,059 (GRCm39)	M261K	probably damaging	Het
Or1e1d-ps1	G	A	11: 73,819,663 (GRCm39)	M204I	probably benign	Het
Or4f47	A	T	2: 111,972,514 (GRCm39)	S75C	possibly damaging	Het
Or5af1	T	A	11: 58,722,750 (GRCm39)	Y257N	probably damaging	Het
Or8g52	A	G	9: 39,630,906 (GRCm39)	N128D	probably benign	Het
Pak1	T	A	7: 97,538,179 (GRCm39)	V262E	probably benign	Het
Pigw	A	T	11: 84,767,930 (GRCm39)	D466E	probably damaging	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,240,432 (GRCm39)		probably benign	Het
Rfx1	A	G	8: 84,800,385 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,500,639 (GRCm39)	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,384,702 (GRCm39)	D226E	probably benign	Het
Sgk3	G	A	1: 9,954,701 (GRCm39)	A271T	possibly damaging	Het
Sh2d5	T	A	4: 137,984,150 (GRCm39)	C173S	probably benign	Het
Skint8	T	C	4: 111,796,769 (GRCm39)	V291A	probably benign	Het
Slc22a27	T	A	19: 7,904,054 (GRCm39)	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,023,751 (GRCm39)	V449I	probably benign	Het
Slc39a9	T	C	12: 80,726,316 (GRCm39)	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,183,942 (GRCm39)	H495Y	probably damaging	Het
Stab2	G	A	10: 86,805,049 (GRCm39)	Q310*	probably null	Het
Supt16	C	A	14: 52,408,948 (GRCm39)	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,689,212 (GRCm39)	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,439,685 (GRCm39)	T565M	unknown	Het
Tll1	G	A	8: 64,478,176 (GRCm39)	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,867,512 (GRCm39)	T232I	possibly damaging	Het
Trim65	T	G	11: 116,019,116 (GRCm39)	D141A	probably benign	Het
Trim80	T	C	11: 115,332,042 (GRCm39)	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,709,051 (GRCm39)	I83N	probably benign	Het
Vnn3	G	A	10: 23,727,806 (GRCm39)	G72D	probably benign	Het
Wasl	G	T	6: 24,619,686 (GRCm39)	P278Q	unknown	Het
Wdr62	A	T	7: 29,943,342 (GRCm39)	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,942,814 (GRCm39)	T663I	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
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'- AGCCCAGGAAGATATCAGCTC -3'
(R):5'- GGGTATACATGACTGCATTAGAGG -3'

Sequencing Primer
(F):5'- GATATCAGCTCCACCTTTGTAGGAG -3'
(R):5'- GCTACATGGGTATGTCAGGATAG -3'

Posted On

2019-09-13