Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02380:Acsm5'

291338

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acsm5

Ensembl Gene

ENSMUSG00000030972

Gene Name

acyl-CoA synthetase medium-chain family member 5

Synonyms

C730027J19Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

IGL02380

Quality Score

Status

Chromosome

Chromosomal Location

119519463-119545551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119537286 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 360 (Q360L)

Ref Sequence

ENSEMBL: ENSMUSP00000146520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066465] [ENSMUST00000207307] [ENSMUST00000207381] [ENSMUST00000207387] [ENSMUST00000207440] [ENSMUST00000207796] [ENSMUST00000207813]

Predicted Effect

probably benign
Transcript: ENSMUST00000066465
AA Change: Q360L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: Q360L

Domain	Start	End	E-Value	Type
low complexity region	26	32	N/A	INTRINSIC
Pfam:AMP-binding	65	477	2.9e-78	PFAM
Pfam:AMP-binding_C	485	565	3.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207307

Predicted Effect

probably benign
Transcript: ENSMUST00000207381

Predicted Effect

probably benign
Transcript: ENSMUST00000207387

Predicted Effect

probably benign
Transcript: ENSMUST00000207440
AA Change: Q360L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000207796
AA Change: Q360L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000207813

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,994,544	P546T	possibly damaging	Het
Abca13	T	C	11: 9,291,599	I1154T	possibly damaging	Het
Abca8a	A	G	11: 110,078,815		probably benign	Het
Adamtsl5	T	C	10: 80,341,778	E350G	probably benign	Het
Adgrl2	A	T	3: 148,828,489	L1017*	probably null	Het
Aqr	T	C	2: 114,109,936	D1243G	probably damaging	Het
Arhgef17	G	T	7: 100,929,443	P766Q	possibly damaging	Het
Bclaf1	T	C	10: 20,325,367	V413A	possibly damaging	Het
Bcr	A	G	10: 75,175,299	D14G	probably benign	Het
Cadps2	C	T	6: 23,287,732	V1190I	probably benign	Het
Cdh9	A	G	15: 16,856,000	I709V	possibly damaging	Het
Cnbd1	C	A	4: 18,887,748		probably null	Het
Cnbd1	T	A	4: 18,887,749		probably null	Het
Col4a3	T	C	1: 82,672,788		probably benign	Het
Coro1a	T	A	7: 126,703,116	K20*	probably null	Het
Crb2	T	A	2: 37,783,435	D114E	probably damaging	Het
Dnah6	C	A	6: 73,076,640	K2870N	probably benign	Het
Fam196a	A	T	7: 134,899,144		probably null	Het
Fpr3	A	G	17: 17,970,992	H175R	probably benign	Het
Gk5	T	G	9: 96,150,480	S248A	possibly damaging	Het
Grm4	T	A	17: 27,434,661	I772F	probably damaging	Het
Gstt4	A	G	10: 75,817,239	I163T	possibly damaging	Het
Hr	A	G	14: 70,557,761	R278G	probably damaging	Het
Igfbp5	T	A	1: 72,863,949	R156*	probably null	Het
Ighv1-4	G	A	12: 114,487,133		probably benign	Het
Kcna2	A	C	3: 107,104,958	Q285P	probably benign	Het
Klf5	A	T	14: 99,301,458	R102S	possibly damaging	Het
Ldb1	A	T	19: 46,034,490	M252K	possibly damaging	Het
Lrrc66	T	C	5: 73,629,666	I114V	possibly damaging	Het
Map1b	A	T	13: 99,431,143	I1690N	unknown	Het
Myo1a	A	G	10: 127,714,485	T565A	probably benign	Het
Nt5c	T	C	11: 115,491,301	D84G	possibly damaging	Het
Pde1b	A	G	15: 103,519,990	N51S	possibly damaging	Het
Pikfyve	T	A	1: 65,256,021	L1437Q	probably damaging	Het
Pld5	C	T	1: 176,140,044	V82I	probably damaging	Het
Psmb6	T	A	11: 70,525,911	N42K	probably benign	Het
Slco3a1	G	A	7: 74,554,490	S34F	probably damaging	Het
Slfn9	A	G	11: 82,981,220	Y897H	probably benign	Het
Spag6l	T	C	16: 16,763,169		probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tmem215	A	T	4: 40,474,534	I204F	probably benign	Het
Txnl1	A	G	18: 63,674,043		probably null	Het
Ube2q2	T	A	9: 55,163,012	D79E	probably benign	Het
Ugt2a3	T	C	5: 87,336,799	D122G	probably benign	Het
Vmn2r73	A	T	7: 85,858,175	I643K	probably benign	Het
Xkrx	T	A	X: 134,150,639	H421L	probably benign	Het

Other mutations in Acsm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Acsm5	APN	7	119542438	critical splice donor site	probably null
IGL01662:Acsm5	APN	7	119538288	missense	probably damaging	1.00
IGL02228:Acsm5	APN	7	119531866	missense	probably damaging	1.00
IGL02709:Acsm5	APN	7	119534818	nonsense	probably null
P4717OSA:Acsm5	UTSW	7	119531972	missense	probably benign	0.12
R0506:Acsm5	UTSW	7	119538096	nonsense	probably null
R0518:Acsm5	UTSW	7	119535800	missense	possibly damaging	0.95
R0866:Acsm5	UTSW	7	119540900	missense	probably damaging	0.99
R1171:Acsm5	UTSW	7	119540852	missense	probably damaging	0.99
R2362:Acsm5	UTSW	7	119528426	start gained	probably benign
R2511:Acsm5	UTSW	7	119530454	missense	possibly damaging	0.80
R4670:Acsm5	UTSW	7	119531760	splice site	probably null
R4908:Acsm5	UTSW	7	119538091	missense	probably damaging	1.00
R4913:Acsm5	UTSW	7	119534343	missense	probably damaging	0.98
R5038:Acsm5	UTSW	7	119534811	missense	probably damaging	1.00
R5112:Acsm5	UTSW	7	119537279	missense	possibly damaging	0.95
R6337:Acsm5	UTSW	7	119534235	missense	probably benign	0.00
R6481:Acsm5	UTSW	7	119534881	missense	probably benign	0.02
R7268:Acsm5	UTSW	7	119537288	missense	probably benign	0.38
R7275:Acsm5	UTSW	7	119537288	missense	possibly damaging	0.81
R7509:Acsm5	UTSW	7	119534388	missense	probably benign
R7794:Acsm5	UTSW	7	119538129	unclassified	probably benign
R8021:Acsm5	UTSW	7	119542393	missense	possibly damaging	0.72
R8178:Acsm5	UTSW	7	119542395	missense	probably damaging	1.00
Z1088:Acsm5	UTSW	7	119537211	missense	probably damaging	0.96

Posted On

2015-04-16