Mutagenetix > Incidental Mutation

Incidental Mutation 'R7892:Acsm4'

609387

Institutional Source

Beutler Lab

Gene Symbol

Acsm4

Ensembl Gene

ENSMUSG00000047026

Gene Name

acyl-CoA synthetase medium-chain family member 4

Synonyms

OMACS, O-MACS

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7892 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119690026-119714565 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119694666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 87 (V87M)

Ref Sequence

ENSEMBL: ENSMUSP00000045160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047045]

AlphaFold

Q80W40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047045
AA Change: V87M

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
AA Change: V87M

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	64	478	5.8e-83	PFAM
Pfam:AMP-binding_C	486	566	1.4e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,618,485	E134G		Het
Adamts3	T	C	5: 89,861,429	N125S	probably benign	Het
AI314180	T	C	4: 58,828,593	I947V	probably benign	Het
Arhgef4	A	G	1: 34,721,804	E47G	unknown	Het
BC067074	C	T	13: 113,319,606	R729C		Het
C1ra	A	G	6: 124,519,415	M367V	probably benign	Het
Ces2b	T	C	8: 104,832,753	W84R	probably damaging	Het
Clca3a1	T	C	3: 144,730,818	T835A	probably benign	Het
Cmya5	T	C	13: 93,096,357	E741G	probably damaging	Het
D330020A13Rik	T	C	6: 120,294,858	L165P	unknown	Het
Dtnbp1	A	T	13: 44,922,289	L326*	probably null	Het
Fat4	A	T	3: 38,949,439		probably null	Het
Fuom	T	A	7: 140,099,579	I143F	unknown	Het
Gm12569	G	A	11: 51,234,786	E179K	possibly damaging	Het
Gm14444	A	T	2: 175,016,731	M33L	probably damaging	Het
Gm21818	G	T	13: 120,173,159		probably benign	Het
Hmcn1	T	C	1: 150,664,892	T2889A	probably benign	Het
Kif5b	G	A	18: 6,212,517	T769M	probably benign	Het
Kif9	G	A	9: 110,514,614	R567H	not run	Het
Kmt2c	A	T	5: 25,299,816	M3498K	probably benign	Het
Lrrc29	A	T	8: 105,315,533	I221N	possibly damaging	Het
Ly6e	T	A	15: 74,957,851	L15*	probably null	Het
Malt1	G	A	18: 65,464,116		probably null	Het
Mylk	G	C	16: 34,879,524	S419T	probably benign	Het
Oacyl	T	C	18: 65,737,847	L373P	probably benign	Het
Olfr1444	C	T	19: 12,862,479	R235*	probably null	Het
Olfr1471	T	A	19: 13,445,298	C95*	probably null	Het
Olfr32	T	C	2: 90,138,492	I216V	probably benign	Het
Olfr959	A	C	9: 39,572,549	S237A	possibly damaging	Het
Pcdh20	A	T	14: 88,467,431	L811*	probably null	Het
Pgrmc2	A	T	3: 41,082,980	D5E	probably damaging	Het
Pign	A	C	1: 105,657,676	F49L	probably benign	Het
Pip5k1b	T	C	19: 24,360,093	D277G	probably benign	Het
Ppm1m	A	G	9: 106,198,696	V11A	probably benign	Het
Prl7a1	A	T	13: 27,633,678	V201E	not run	Het
Samhd1	A	G	2: 157,116,495	S269P	probably damaging	Het
Sik2	A	G	9: 51,008,832	V15A	probably damaging	Het
Slc4a7	G	A	14: 14,773,348	E773K	probably benign	Het
Sntg1	T	C	1: 8,782,800	D42G	probably damaging	Het
Speg	A	T	1: 75,427,166	N2664Y	probably damaging	Het
Treh	A	G	9: 44,684,718	Y435C	probably damaging	Het
Trim59	A	G	3: 69,037,807	S67P	probably benign	Het
Trim68	A	T	7: 102,678,797	C309S	unknown	Het
Tubb4a	G	T	17: 57,080,880	S382*	probably null	Het
Vmn2r15	A	T	5: 109,286,351	I829N	probably damaging	Het
Vmn2r68	T	C	7: 85,234,514	T128A	probably benign	Het
Vmn2r70	T	A	7: 85,559,380	I630L	possibly damaging	Het
Zc3hav1	A	G	6: 38,329,221	I632T	probably benign	Het
Zfp558	A	G	9: 18,468,697	S13P	possibly damaging	Het

Other mutations in Acsm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Acsm4	APN	7	119711419	nonsense	probably null
IGL01676:Acsm4	APN	7	119708643	missense	probably benign	0.00
IGL01801:Acsm4	APN	7	119707263	missense	possibly damaging	0.80
IGL02183:Acsm4	APN	7	119693852	splice site	probably null
IGL02220:Acsm4	APN	7	119711172	missense	probably damaging	1.00
IGL02637:Acsm4	APN	7	119710684	missense	probably damaging	1.00
IGL03290:Acsm4	APN	7	119703423	splice site	probably benign
I0000:Acsm4	UTSW	7	119711192	missense	probably damaging	1.00
PIT4382001:Acsm4	UTSW	7	119698575	missense	probably damaging	1.00
R1068:Acsm4	UTSW	7	119708710	missense	probably benign	0.00
R1386:Acsm4	UTSW	7	119698578	missense	probably benign
R1433:Acsm4	UTSW	7	119693819	missense	probably damaging	0.99
R1961:Acsm4	UTSW	7	119708740	missense	probably benign	0.04
R3957:Acsm4	UTSW	7	119703365	missense	possibly damaging	0.93
R4029:Acsm4	UTSW	7	119693785	missense	probably benign
R4072:Acsm4	UTSW	7	119698758	missense	probably benign	0.14
R4075:Acsm4	UTSW	7	119698758	missense	probably benign	0.14
R4076:Acsm4	UTSW	7	119698758	missense	probably benign	0.14
R4432:Acsm4	UTSW	7	119711387	missense	probably damaging	1.00
R4452:Acsm4	UTSW	7	119698574	missense	possibly damaging	0.92
R4757:Acsm4	UTSW	7	119698677	missense	probably benign
R4992:Acsm4	UTSW	7	119711417	missense	probably benign	0.43
R5046:Acsm4	UTSW	7	119703374	missense	probably damaging	0.99
R5473:Acsm4	UTSW	7	119712950	missense	probably damaging	1.00
R5662:Acsm4	UTSW	7	119694800	missense	possibly damaging	0.49
R5780:Acsm4	UTSW	7	119693845	missense	possibly damaging	0.66
R6957:Acsm4	UTSW	7	119711399	missense	probably damaging	1.00
R7579:Acsm4	UTSW	7	119693710	missense	probably benign	0.01
R8716:Acsm4	UTSW	7	119708660	missense	probably damaging	1.00
R8738:Acsm4	UTSW	7	119705041	missense	probably benign	0.00
R9616:Acsm4	UTSW	7	119694649	missense	probably benign	0.01
Z1177:Acsm4	UTSW	7	119711371	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGTGAGGAAGACTGCCTG -3'
(R):5'- GCTGACCCTTCACAAAAGTCTC -3'

Sequencing Primer
(F):5'- AAGGGCCTAGGGTCTGATC -3'
(R):5'- GTCTCAAGTTTTGACACTCATTTGTG -3'

Posted On

2019-12-20