Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00775:Acsm1'

12436

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acsm1

Ensembl Gene

ENSMUSG00000033533

Gene Name

acyl-CoA synthetase medium-chain family member 1

Synonyms

Macs, Bucs1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00775

Quality Score

Status

Chromosome

Chromosomal Location

119216980-119261738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119257524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 403 (N403S)

Ref Sequence

ENSEMBL: ENSMUSP00000120146 (fasta)

Gene Model

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

AlphaFold

Q91VA0

Predicted Effect

probably benign
Transcript: ENSMUST00000047929
AA Change: N430S

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533
AA Change: N430S

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

possibly damaging
Transcript: ENSMUST00000135683
AA Change: N403S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533
AA Change: N403S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	C	8: 25,411,370 (GRCm39)	Y92C	probably damaging	Het
Ankfy1	G	A	11: 72,619,598 (GRCm39)	G157D	probably benign	Het
Cfap299	T	C	5: 98,932,369 (GRCm39)	Y190H	probably benign	Het
Champ1	T	C	8: 13,929,509 (GRCm39)	S556P	probably damaging	Het
Dnah8	T	G	17: 30,986,880 (GRCm39)	Y3176*	probably null	Het
Gbp8	T	C	5: 105,165,711 (GRCm39)	N314S	probably damaging	Het
Kif1c	A	G	11: 70,614,960 (GRCm39)		probably null	Het
Pcdhb22	T	C	18: 37,652,795 (GRCm39)	V421A	probably benign	Het
Plag1	A	G	4: 3,904,055 (GRCm39)	S379P	probably damaging	Het
Skint11	A	T	4: 114,051,889 (GRCm39)	D79V	probably damaging	Het
Tdp2	A	G	13: 25,024,521 (GRCm39)	T273A	probably damaging	Het
Utrn	A	G	10: 12,620,974 (GRCm39)		probably null	Het
Zscan21	C	A	5: 138,131,310 (GRCm39)	S99*	probably null	Het

Other mutations in Acsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6406:Acsm1	UTSW	7	119,261,484 (GRCm39)	missense	probably benign	0.01
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

Posted On

2012-12-06