Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01662:Acsm5'

103181

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?

Probably non essential (E-score: 0.198) question?

Stock #

IGL01662

Quality Score

Status

Chromosome

Chromosomal Location

119519463-119545551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119538288 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 402 (I402F)

Ref Sequence

ENSEMBL: ENSMUSP00000146520 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066465
AA Change: I402F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: I402F

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

unknown
Transcript: ENSMUST00000207381
AA Change: R91S

Predicted Effect

probably benign
Transcript: ENSMUST00000207387

Predicted Effect

probably damaging
Transcript: ENSMUST00000207440
AA Change: I402F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207796
AA Change: I402F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207813

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2b	T	C	9: 119,432,504	Y388H	probably damaging	Het
Adh1	G	A	3: 138,282,751	D162N	possibly damaging	Het
C6	G	T	15: 4,792,754	R585I	probably damaging	Het
Ccdc169	T	A	3: 55,163,311		probably null	Het
Cdh13	T	A	8: 118,675,177	M106K	probably damaging	Het
Cep78	C	T	19: 15,960,995	E530K	probably damaging	Het
Cyfip1	T	A	7: 55,896,739	L533Q	probably damaging	Het
Etl4	T	C	2: 20,806,649	V1181A	probably benign	Het
Fam105a	C	T	15: 27,658,065	D290N	probably damaging	Het
Fam122a	A	G	19: 24,476,584	V258A	probably benign	Het
Galnt7	T	G	8: 57,531,735		probably benign	Het
Gm11595	G	A	11: 99,772,672	R61C	unknown	Het
Gucy1a1	T	A	3: 82,109,253	I143F	possibly damaging	Het
Hmcn1	T	C	1: 150,737,299	N1410D	possibly damaging	Het
Ltbp2	G	A	12: 84,809,246	T741I	probably benign	Het
Mdc1	T	C	17: 35,852,505	S982P	probably benign	Het
Mfsd4b2	A	G	10: 39,922,197		probably benign	Het
Mrgprb5	T	G	7: 48,168,424	I188L	probably benign	Het
Naip6	T	A	13: 100,300,354	S554C	probably damaging	Het
Nav2	A	G	7: 49,571,209	N1715D	probably damaging	Het
Nav3	A	T	10: 109,769,258	S985T	possibly damaging	Het
Nme7	A	G	1: 164,328,297	Q22R	probably benign	Het
Olfr556	T	C	7: 102,670,720	W267R	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,322	E815G	probably damaging	Het
Ppp2r2c	T	A	5: 36,926,400	I95N	probably damaging	Het
Ppp4r4	G	A	12: 103,602,966	E717K	possibly damaging	Het
Prdm2	A	G	4: 143,133,568	S1051P	possibly damaging	Het
Rnf214	T	C	9: 45,899,786	D193G	probably damaging	Het
Sirpb1b	G	T	3: 15,543,184	T167K	probably damaging	Het
Slc16a3	C	A	11: 120,956,706	S240*	probably null	Het
Snx14	T	A	9: 88,385,838		probably benign	Het
Sorbs2	A	G	8: 45,803,829		probably benign	Het
Stk-ps2	A	T	1: 46,029,362		noncoding transcript	Het
Taar7b	A	T	10: 23,999,976	D13V	probably benign	Het
Trp53bp1	T	C	2: 121,236,025	E740G	probably damaging	Het
Unc79	C	T	12: 103,149,020	A2054V	possibly damaging	Het
Zfp106	A	G	2: 120,523,553	V211A	probably benign	Het
Zfp112	A	G	7: 24,125,954	H449R	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
IGL02228:Acsm5	APN	7	119531866	missense	probably damaging	1.00
IGL02380:Acsm5	APN	7	119537286	missense	probably benign	0.05
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

2014-01-21