Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01373:Acsm4'

84084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acsm4

Ensembl Gene

ENSMUSG00000047026

Gene Name

acyl-CoA synthetase medium-chain family member 4

Synonyms

OMACS, O-MACS

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

119690026-119714565 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 119711419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 510 (R510*)

Ref Sequence

ENSEMBL: ENSMUSP00000045160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033236] [ENSMUST00000047045]

AlphaFold

Q80W40

Predicted Effect

probably benign
Transcript: ENSMUST00000033236

SMART Domains

Protein: ENSMUSP00000033236
Gene: ENSMUSG00000030942

Domain	Start	End	E-Value	Type
THUMP	161	254	4.5e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000047045
AA Change: R510*

SMART Domains

Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
AA Change: R510*

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,310,730	E1024D	probably benign	Het
Aff2	T	A	X: 69,867,729	D1239E	possibly damaging	Het
Agps	T	C	2: 75,852,784	V151A	probably benign	Het
Cables1	A	T	18: 11,888,764	R276S	probably damaging	Het
Cep72	A	G	13: 74,059,459	S64P	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpxm1	T	C	2: 130,394,135	E369G	probably damaging	Het
Dnah6	A	G	6: 73,074,748	L3021P	probably benign	Het
Esyt1	T	C	10: 128,518,941	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbxw24	C	T	9: 109,623,633	G98D	probably damaging	Het
Folh1	T	C	7: 86,746,142	I361V	probably benign	Het
Gm12666	A	G	4: 92,191,625	V42A	probably damaging	Het
Gpr19	T	A	6: 134,870,321	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,717,032	V143A	probably damaging	Het
Lmcd1	A	G	6: 112,310,625	I91V	probably benign	Het
Lpin3	G	T	2: 160,903,729	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,529,507	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Nxnl2	T	C	13: 51,171,452	F44L	probably damaging	Het
Olfr698	T	C	7: 106,752,446		probably benign	Het
Olfr744	T	A	14: 50,618,612	I130N	probably damaging	Het
Pcdhb20	A	T	18: 37,506,568	R716W	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Plekhf1	T	C	7: 38,221,797	T116A	probably benign	Het
Psmb2	G	T	4: 126,687,092	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,835,216	L42*	probably null	Het
Ptpn22	A	T	3: 103,886,204	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,492,601	V191I	probably benign	Het
Rgs1	T	A	1: 144,245,378	D185V	probably damaging	Het
Selenoh	A	G	2: 84,670,594		probably benign	Het
Slc6a5	C	T	7: 49,917,733	P312S	probably benign	Het
Snapc1	T	A	12: 73,964,680	M40K	probably benign	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Syne2	T	C	12: 75,987,107	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,040,434	V911M	probably damaging	Het
Tex9	A	T	9: 72,480,754	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,775,957	C1063F	possibly damaging	Het
Usp38	C	A	8: 80,990,018	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,156,702	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het

Other mutations in Acsm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7892:Acsm4	UTSW	7	119694666	missense	possibly damaging	0.48
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

Posted On

2013-11-11