Mutagenetix > Incidental Mutation

Incidental Mutation 'R4075:Acsm4'

316523

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

040974-MU

Accession Numbers

Essential gene?

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

Stock #

R4075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119289249-119313788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119297981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 206 (L206H)

Ref Sequence

ENSEMBL: ENSMUSP00000045160 (fasta)

Gene Model

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

AlphaFold

Q80W40

Predicted Effect

probably benign
Transcript: ENSMUST00000047045
AA Change: L206H

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
AA Change: L206H

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Adgrf5	T	G	17: 43,761,086 (GRCm39)	V927G	probably damaging	Het
Agtr1a	A	G	13: 30,565,817 (GRCm39)	N294S	probably damaging	Het
Aspm	T	C	1: 139,402,023 (GRCm39)	L1229S	probably damaging	Het
Chmp7	A	T	14: 69,969,730 (GRCm39)	V70E	probably damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Cubn	A	G	2: 13,318,810 (GRCm39)	V2963A	possibly damaging	Het
Depp1	A	G	6: 116,629,029 (GRCm39)	N124S	possibly damaging	Het
Dnah5	T	A	15: 28,293,937 (GRCm39)	D1347E	probably benign	Het
Dsg1a	T	G	18: 20,473,127 (GRCm39)	N733K	possibly damaging	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ercc4	G	A	16: 12,948,549 (GRCm39)	V499I	probably damaging	Het
Fsip2	C	T	2: 82,813,245 (GRCm39)	S3188L	probably benign	Het
Herc1	A	G	9: 66,325,774 (GRCm39)	D1416G	probably benign	Het
Hormad1	T	C	3: 95,485,514 (GRCm39)	M234T	possibly damaging	Het
Ifi44	A	T	3: 151,451,613 (GRCm39)	N164K	probably benign	Het
Ikzf3	G	T	11: 98,358,469 (GRCm39)	Y289*	probably null	Het
Il17rc	A	G	6: 113,458,158 (GRCm39)	D327G	possibly damaging	Het
Lamp3	A	G	16: 19,519,466 (GRCm39)	L239P	possibly damaging	Het
Lce1l	C	T	3: 92,757,540 (GRCm39)	S106N	unknown	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Map4k4	T	C	1: 40,062,622 (GRCm39)	Y1196H	probably damaging	Het
Mtr	C	A	13: 12,230,298 (GRCm39)		probably null	Het
Nlrp4c	A	G	7: 6,075,709 (GRCm39)	K667E	probably benign	Het
Nxt1	A	G	2: 148,517,652 (GRCm39)	D131G	probably damaging	Het
Obox3	G	T	7: 15,359,724 (GRCm39)	T315N	possibly damaging	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Or5bw2	T	C	7: 6,573,142 (GRCm39)	S51P	probably benign	Het
Pcdh7	A	G	5: 57,879,150 (GRCm39)	R902G	probably damaging	Het
Pidd1	A	G	7: 141,020,739 (GRCm39)	F453L	probably damaging	Het
Ptpn1	T	A	2: 167,818,433 (GRCm39)		probably null	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Slc28a2b	T	G	2: 122,344,892 (GRCm39)	V166G	probably benign	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Ssrp1	A	C	2: 84,875,912 (GRCm39)	K590N	possibly damaging	Het
Svs5	T	C	2: 164,079,238 (GRCm39)	E223G	probably benign	Het
Tab3	G	T	X: 84,658,063 (GRCm39)	V197F	probably damaging	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,818,427 (GRCm39)	T617I	possibly damaging	Het
Zfp677	T	C	17: 21,618,421 (GRCm39)	Y493H	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
R3957:Acsm4	UTSW	7	119,302,588 (GRCm39)	missense	possibly damaging	0.93
R4029:Acsm4	UTSW	7	119,293,008 (GRCm39)	missense	probably benign
R4072: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'- GGAACGATCCAACTGACCAG -3'
(R):5'- TCATCATAGGCCACAGAGGAG -3'

Sequencing Primer
(F):5'- GAAAAGACATCCTCTACCGGCTG -3'
(R):5'- CAGAGGACATATGTTCAATCCCTGG -3'

Posted On

2015-05-15