Mutagenetix > Incidental Mutation

Incidental Mutation 'R3957:Acsm4'

310760

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

040931-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119289249-119313788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119302588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 238 (M238L)

Ref Sequence

ENSEMBL: ENSMUSP00000045160 (fasta)

Gene Model

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

AlphaFold

Q80W40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047045
AA Change: M238L

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
AA Change: M238L

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Atp13a5	T	A	16: 29,117,012 (GRCm39)	I579L	probably benign	Het
Canx	A	G	11: 50,199,210 (GRCm39)	V153A	probably damaging	Het
Cdan1	A	G	2: 120,556,113 (GRCm39)	Y718H	probably damaging	Het
Cdan1	G	A	2: 120,561,501 (GRCm39)		probably benign	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Dach1	T	C	14: 98,077,545 (GRCm39)	T561A	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dhx29	C	T	13: 113,067,455 (GRCm39)	A112V	probably benign	Het
Fanca	G	A	8: 124,043,102 (GRCm39)	R95C	probably benign	Het
Fat4	C	A	3: 39,036,495 (GRCm39)	N3382K	probably benign	Het
Fkbp15	A	C	4: 62,252,489 (GRCm39)	F290L	probably benign	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,300 (GRCm39)	Q97L	probably damaging	Het
Igkv15-103	A	T	6: 68,414,903 (GRCm39)	Y114F	probably benign	Het
Kera	G	A	10: 97,448,707 (GRCm39)	R309H	probably benign	Het
Kif1a	T	A	1: 92,953,416 (GRCm39)	H1256L	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lmx1b	T	C	2: 33,459,106 (GRCm39)	E149G	probably damaging	Het
Me2	A	G	18: 73,914,203 (GRCm39)	F443L	probably damaging	Het
Med12l	T	A	3: 58,980,589 (GRCm39)	S307R	probably damaging	Het
Mettl25b	T	C	3: 87,834,135 (GRCm39)	K116R	possibly damaging	Het
Mocs2	T	A	13: 114,961,803 (GRCm39)		probably null	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5d43	A	G	2: 88,105,348 (GRCm39)	F15S	probably damaging	Het
Ovch2	G	A	7: 107,388,318 (GRCm39)	L421F	probably damaging	Het
Pan2	C	T	10: 128,151,046 (GRCm39)	R806C	probably damaging	Het
Plod3	A	T	5: 137,023,046 (GRCm39)	H616L	probably damaging	Het
Plxnb3	T	C	X: 72,814,826 (GRCm39)	V1789A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tdrkh	A	G	3: 94,335,556 (GRCm39)	N383S	probably damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Trub1	G	A	19: 57,473,798 (GRCm39)	A239T	possibly damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Unc13b	A	G	4: 43,256,834 (GRCm39)	Y3962C	probably damaging	Het
Usp3	T	C	9: 66,469,873 (GRCm39)	T83A	probably benign	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Zmym6	T	C	4: 127,017,089 (GRCm39)	S957P	possibly damaging	Het
Zmynd8	T	C	2: 165,654,395 (GRCm39)	T722A	probably damaging	Het

Other mutations in Acsm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Acsm4	APN	7	119,310,642 (GRCm39)	nonsense	probably null
IGL01676:Acsm4	APN	7	119,307,866 (GRCm39)	missense	probably benign	0.00
IGL01801:Acsm4	APN	7	119,306,486 (GRCm39)	missense	possibly damaging	0.80
IGL02183:Acsm4	APN	7	119,293,075 (GRCm39)	splice site	probably null
IGL02220:Acsm4	APN	7	119,310,395 (GRCm39)	missense	probably damaging	1.00
IGL02637:Acsm4	APN	7	119,309,907 (GRCm39)	missense	probably damaging	1.00
IGL03290:Acsm4	APN	7	119,302,646 (GRCm39)	splice site	probably benign
I0000:Acsm4	UTSW	7	119,310,415 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Acsm4	UTSW	7	119,297,798 (GRCm39)	missense	probably damaging	1.00
R1068:Acsm4	UTSW	7	119,307,933 (GRCm39)	missense	probably benign	0.00
R1386:Acsm4	UTSW	7	119,297,801 (GRCm39)	missense	probably benign
R1433:Acsm4	UTSW	7	119,293,042 (GRCm39)	missense	probably damaging	0.99
R1961:Acsm4	UTSW	7	119,307,963 (GRCm39)	missense	probably benign	0.04
R4029:Acsm4	UTSW	7	119,293,008 (GRCm39)	missense	probably benign
R4072:Acsm4	UTSW	7	119,297,981 (GRCm39)	missense	probably benign	0.14
R4075:Acsm4	UTSW	7	119,297,981 (GRCm39)	missense	probably benign	0.14
R4076:Acsm4	UTSW	7	119,297,981 (GRCm39)	missense	probably benign	0.14
R4432:Acsm4	UTSW	7	119,310,610 (GRCm39)	missense	probably damaging	1.00
R4452:Acsm4	UTSW	7	119,297,797 (GRCm39)	missense	possibly damaging	0.92
R4757:Acsm4	UTSW	7	119,297,900 (GRCm39)	missense	probably benign
R4992:Acsm4	UTSW	7	119,310,640 (GRCm39)	missense	probably benign	0.43
R5046:Acsm4	UTSW	7	119,302,597 (GRCm39)	missense	probably damaging	0.99
R5473:Acsm4	UTSW	7	119,312,173 (GRCm39)	missense	probably damaging	1.00
R5662:Acsm4	UTSW	7	119,294,023 (GRCm39)	missense	possibly damaging	0.49
R5780:Acsm4	UTSW	7	119,293,068 (GRCm39)	missense	possibly damaging	0.66
R6957:Acsm4	UTSW	7	119,310,622 (GRCm39)	missense	probably damaging	1.00
R7579:Acsm4	UTSW	7	119,292,933 (GRCm39)	missense	probably benign	0.01
R7892:Acsm4	UTSW	7	119,293,889 (GRCm39)	missense	possibly damaging	0.48
R8716:Acsm4	UTSW	7	119,307,883 (GRCm39)	missense	probably damaging	1.00
R8738:Acsm4	UTSW	7	119,304,264 (GRCm39)	missense	probably benign	0.00
R9616:Acsm4	UTSW	7	119,293,872 (GRCm39)	missense	probably benign	0.01
Z1177:Acsm4	UTSW	7	119,310,594 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGCAGTAGGTTCAGTTC -3'
(R):5'- CCTGGGAGACTGCATAGAAAAC -3'

Sequencing Primer
(F):5'- CATTATTCCCCCGTGGTAAGTGG -3'
(R):5'- CCTGCAAATTCAACTATTTTTGTGGG -3'

Posted On

2015-04-29