Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02480:Acsm1'

295154

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 #

IGL02480

Quality Score

Status

Chromosome

Chromosomal Location

119216980-119261738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119255265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 389 (I389F)

Ref Sequence

ENSEMBL: ENSMUSP00000120146 (fasta)

Gene Model

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

AlphaFold

Q91VA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047929
AA Change: I416F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533
AA Change: I416F

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: I389F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533
AA Change: I389F

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,946,908 (GRCm39)	I202K	probably benign	Het
Abcc1	T	A	16: 14,221,869 (GRCm39)	S169T	possibly damaging	Het
Actn2	T	A	13: 12,291,364 (GRCm39)	Q680L	probably benign	Het
Ankrd13d	G	A	19: 4,321,491 (GRCm39)	P404S	possibly damaging	Het
Ankrd46	G	T	15: 36,484,142 (GRCm39)		probably benign	Het
Arfip1	A	G	3: 84,455,239 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,570,745 (GRCm39)	L574F	probably damaging	Het
Cym	T	C	3: 107,120,838 (GRCm39)	I256V	probably benign	Het
Cyp3a44	C	T	5: 145,731,715 (GRCm39)	E144K	possibly damaging	Het
Efna1	T	C	3: 89,179,902 (GRCm39)	E109G	probably benign	Het
Eif4a3l1	A	T	6: 136,306,213 (GRCm39)	I225F	probably damaging	Het
Eml1	C	A	12: 108,487,955 (GRCm39)	Q556K	probably benign	Het
Eml5	T	G	12: 98,842,502 (GRCm39)	T199P	probably damaging	Het
Entr1	T	A	2: 26,275,132 (GRCm39)	H342L	probably damaging	Het
Etl4	A	C	2: 20,793,335 (GRCm39)	M687L	probably damaging	Het
Fam199x	C	A	X: 135,950,788 (GRCm39)	T56K	probably damaging	Het
Fat4	A	G	3: 39,064,579 (GRCm39)	D4845G	probably damaging	Het
Gm4987	T	A	X: 45,544,973 (GRCm39)		noncoding transcript	Het
Gm5828	C	A	1: 16,839,766 (GRCm39)		noncoding transcript	Het
Gm5930	T	C	14: 44,575,087 (GRCm39)	Y68C	probably benign	Het
Gucy1a1	C	T	3: 82,005,040 (GRCm39)	V582M	probably damaging	Het
Haghl	G	T	17: 26,002,033 (GRCm39)	A220E	probably damaging	Het
Hsf5	G	A	11: 87,522,483 (GRCm39)	A359T	possibly damaging	Het
Igsf9	A	T	1: 172,312,345 (GRCm39)		probably benign	Het
Igsf9	C	A	1: 172,324,480 (GRCm39)	D799E	possibly damaging	Het
Itga1	A	T	13: 115,124,184 (GRCm39)	F703I	probably damaging	Het
Kcna6	G	A	6: 126,715,531 (GRCm39)	P453S	probably damaging	Het
Lzic	A	T	4: 149,571,260 (GRCm39)	N15I	probably damaging	Het
Or1j10	T	G	2: 36,267,504 (GRCm39)	C239G	probably damaging	Het
Or2n1d	A	G	17: 38,646,314 (GRCm39)	R89G	probably benign	Het
Or4f54	A	G	2: 111,122,858 (GRCm39)	I82V	possibly damaging	Het
Or5p78	C	T	7: 108,212,018 (GRCm39)	T168I	probably benign	Het
P4ha1	T	C	10: 59,179,574 (GRCm39)	Y141H	probably damaging	Het
Paxx	G	A	2: 25,350,024 (GRCm39)	P164S	probably damaging	Het
Pgd	A	G	4: 149,241,075 (GRCm39)	V278A	probably damaging	Het
Pik3c2g	A	G	6: 139,798,526 (GRCm39)	Y352C	probably damaging	Het
Pkd2l2	A	G	18: 34,571,843 (GRCm39)	N614S	possibly damaging	Het
Poli	T	C	18: 70,658,477 (GRCm39)	T86A	probably benign	Het
Psd2	G	A	18: 36,139,136 (GRCm39)	R528H	probably damaging	Het
Ptchd4	G	T	17: 42,813,431 (GRCm39)	C444F	probably benign	Het
Ptpra	C	A	2: 130,346,181 (GRCm39)	T114K	probably benign	Het
Rho	A	G	6: 115,912,505 (GRCm39)	N123S	probably benign	Het
Setd5	A	G	6: 113,120,770 (GRCm39)	D993G	probably damaging	Het
Slc1a2	T	C	2: 102,566,411 (GRCm39)	L38P	probably damaging	Het
Slc2a7	G	A	4: 150,244,569 (GRCm39)	V346M	possibly damaging	Het
Slc43a1	A	G	2: 84,669,928 (GRCm39)	I7V	probably benign	Het
Spag9	C	T	11: 93,999,413 (GRCm39)	Q691*	probably null	Het
Timmdc1	A	T	16: 38,342,763 (GRCm39)	V45D	probably null	Het
Tlr8	T	A	X: 166,027,179 (GRCm39)	H557L	probably damaging	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
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

2015-04-16