Mutagenetix > Incidental Mutation

Incidental Mutation 'R6406:Acsm1'

516303

Institutional Source

Beutler Lab

Gene Symbol

Acsm1

Ensembl Gene

ENSMUSG00000033533

Gene Name

acyl-CoA synthetase medium-chain family member 1

Synonyms

Macs, Bucs1

MMRRC Submission

044551-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119216980-119261738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119261484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 567 (N567S)

Ref Sequence

ENSEMBL: ENSMUSP00000036140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047929] [ENSMUST00000135683]

AlphaFold

Q91VA0

Predicted Effect

probably benign
Transcript: ENSMUST00000047929
AA Change: N567S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533
AA Change: N567S

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	58	471	8.1e-70	PFAM
Pfam:AMP-binding_C	479	559	1.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135683

SMART Domains

Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	58	371	6.8e-51	PFAM
Pfam:AMP-binding	368	444	9e-15	PFAM
Pfam:AMP-binding_C	452	531	5.4e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,817,865 (GRCm39)	P29L	probably benign	Het
Ahi1	T	G	10: 20,852,948 (GRCm39)	N505K	probably damaging	Het
Ank2	T	A	3: 126,825,874 (GRCm39)	D356V	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bpifb6	C	A	2: 153,746,457 (GRCm39)	T117K	possibly damaging	Het
C2cd6	T	C	1: 59,097,835 (GRCm39)	E418G	possibly damaging	Het
Cbx1	A	T	11: 96,692,364 (GRCm39)	K84*	probably null	Het
Cr2	A	G	1: 194,852,079 (GRCm39)	L90P	probably damaging	Het
Dclk1	A	G	3: 55,387,827 (GRCm39)	D91G	probably damaging	Het
Dock1	C	A	7: 134,747,215 (GRCm39)	Q1509K	probably benign	Het
Fzd1	T	G	5: 4,806,089 (GRCm39)	T498P	probably damaging	Het
Galnt12	A	G	4: 47,122,534 (GRCm39)	N271S	probably benign	Het
Gm12888	A	G	4: 121,176,654 (GRCm39)	I49T	possibly damaging	Het
Gria4	A	T	9: 4,427,077 (GRCm39)	W788R	probably damaging	Het
Ilf3	C	T	9: 21,307,540 (GRCm39)	A379V	probably damaging	Het
Islr2	A	G	9: 58,107,263 (GRCm39)	V43A	probably benign	Het
Jag1	T	A	2: 136,929,563 (GRCm39)	N782I	probably damaging	Het
Klhl8	T	A	5: 104,010,981 (GRCm39)	I539F	possibly damaging	Het
Lama5	A	T	2: 179,839,257 (GRCm39)	C750*	probably null	Het
Lrrc37a	T	A	11: 103,388,361 (GRCm39)	T2355S	unknown	Het
Lrrc8a	A	G	2: 30,147,103 (GRCm39)	H639R	possibly damaging	Het
Map1a	A	T	2: 121,131,224 (GRCm39)	D442V	probably damaging	Het
Mier3	T	C	13: 111,846,343 (GRCm39)		probably null	Het
Msantd1	C	A	5: 35,080,665 (GRCm39)		probably null	Het
Ncapd2	C	A	6: 125,150,841 (GRCm39)	A785S	probably benign	Het
Ncbp2	CTCGTCTGG	C	16: 31,775,159 (GRCm39)		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Ndst4	T	C	3: 125,232,150 (GRCm39)	S240P	probably benign	Het
Nek9	T	C	12: 85,385,946 (GRCm39)	D17G	probably damaging	Het
Nkx6-1	C	T	5: 101,811,677 (GRCm39)	A142T	unknown	Het
Nt5dc1	T	C	10: 34,200,404 (GRCm39)	H205R	probably benign	Het
Or5b94	T	C	19: 12,652,184 (GRCm39)	I205T	probably benign	Het
Or9g3	T	A	2: 85,590,651 (GRCm39)	Q23L	possibly damaging	Het
Pafah1b1	A	G	11: 74,573,098 (GRCm39)	M322T	probably benign	Het
Parp2	A	G	14: 51,056,934 (GRCm39)	N353D	probably benign	Het
Pdcd6ip	T	C	9: 113,503,412 (GRCm39)	N452S	possibly damaging	Het
Pkd1l2	A	G	8: 117,762,586 (GRCm39)	V1397A	probably damaging	Het
Prkdc	T	A	16: 15,535,665 (GRCm39)	L1675Q	probably damaging	Het
Ptprt	T	C	2: 161,395,703 (GRCm39)	I1157V	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Sele	G	T	1: 163,878,312 (GRCm39)	C217F	probably damaging	Het
Spats1	T	A	17: 45,768,191 (GRCm39)	H125L	probably damaging	Het
Stard3	T	C	11: 98,269,595 (GRCm39)	V330A	probably benign	Het
Synj2	T	A	17: 6,069,846 (GRCm39)		probably benign	Het
Thoc1	T	A	18: 9,977,963 (GRCm39)	F301L	probably damaging	Het
Thumpd3	G	A	6: 113,032,924 (GRCm39)	E221K	probably damaging	Het
Trim61	T	C	8: 65,466,377 (GRCm39)	T295A	possibly damaging	Het
Trp53bp1	T	C	2: 121,101,093 (GRCm39)	Q35R	probably damaging	Het
Tsnaxip1	C	T	8: 106,570,615 (GRCm39)	T578I	probably benign	Het

Other mutations in Acsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Acsm1	APN	7	119,257,524 (GRCm39)	missense	possibly damaging	0.46
IGL02121:Acsm1	APN	7	119,257,635 (GRCm39)	missense	possibly damaging	0.76
IGL02480:Acsm1	APN	7	119,255,265 (GRCm39)	missense	possibly damaging	0.94
IGL02806:Acsm1	APN	7	119,235,861 (GRCm39)	missense	probably benign	0.02
IGL03126:Acsm1	APN	7	119,232,403 (GRCm39)	missense	possibly damaging	0.74
wallball	UTSW	7	119,239,917 (GRCm39)	missense	possibly damaging	0.83
R0025:Acsm1	UTSW	7	119,257,538 (GRCm39)	missense	probably damaging	1.00
R0025:Acsm1	UTSW	7	119,257,538 (GRCm39)	missense	probably damaging	1.00
R0090:Acsm1	UTSW	7	119,261,412 (GRCm39)	splice site	probably benign
R0396:Acsm1	UTSW	7	119,235,678 (GRCm39)	missense	probably damaging	1.00
R0491:Acsm1	UTSW	7	119,239,920 (GRCm39)	missense	probably damaging	1.00
R0575:Acsm1	UTSW	7	119,258,424 (GRCm39)	critical splice donor site	probably null
R1220:Acsm1	UTSW	7	119,257,537 (GRCm39)	missense	probably benign	0.00
R1366:Acsm1	UTSW	7	119,257,511 (GRCm39)	splice site	probably benign
R1624:Acsm1	UTSW	7	119,251,796 (GRCm39)	missense	probably damaging	1.00
R2049:Acsm1	UTSW	7	119,255,262 (GRCm39)	missense	probably damaging	1.00
R2937:Acsm1	UTSW	7	119,258,350 (GRCm39)	missense	probably damaging	1.00
R4657:Acsm1	UTSW	7	119,239,917 (GRCm39)	missense	possibly damaging	0.83
R4814:Acsm1	UTSW	7	119,254,687 (GRCm39)	missense	probably benign
R5153:Acsm1	UTSW	7	119,239,950 (GRCm39)	missense	possibly damaging	0.72
R5329:Acsm1	UTSW	7	119,255,274 (GRCm39)	missense	probably benign	0.03
R5471:Acsm1	UTSW	7	119,259,829 (GRCm39)	missense	probably damaging	1.00
R5645:Acsm1	UTSW	7	119,239,920 (GRCm39)	missense	probably damaging	1.00
R6153:Acsm1	UTSW	7	119,232,289 (GRCm39)	missense	probably damaging	1.00
R7068:Acsm1	UTSW	7	119,221,803 (GRCm39)	missense	probably benign
R7311:Acsm1	UTSW	7	119,237,305 (GRCm39)	missense	probably damaging	1.00
R8293:Acsm1	UTSW	7	119,237,319 (GRCm39)	missense	possibly damaging	0.83
R8486:Acsm1	UTSW	7	119,259,880 (GRCm39)	missense	probably damaging	0.98
R8785:Acsm1	UTSW	7	119,261,453 (GRCm39)	missense	probably benign	0.00
R8938:Acsm1	UTSW	7	119,258,385 (GRCm39)	missense	probably damaging	1.00
R8939:Acsm1	UTSW	7	119,239,868 (GRCm39)	missense	probably benign	0.00
R9008:Acsm1	UTSW	7	119,258,325 (GRCm39)	missense	probably benign	0.34
Z1177:Acsm1	UTSW	7	119,261,501 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATGCCCAATGGAGTCCATGG -3'
(R):5'- CAGTCTGAGAGTGCACTGTG -3'

Sequencing Primer
(F):5'- GGGGGTCACCATAGGAAAGTG -3'
(R):5'- TCTGAGAGTGCACTGTGGAAGG -3'

Posted On

2018-05-04