Mutagenetix > Incidental Mutations

Incidental Mutation 'R6337:Acsm5'

513749

Institutional Source

Beutler Lab

Gene Symbol

Acsm5

Ensembl Gene

ENSMUSG00000030972

Gene Name

acyl-CoA synthetase medium-chain family member 5

Synonyms

C730027J19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R6337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119519463-119545551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119534235 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 208 (A208T)

Ref Sequence

ENSEMBL: ENSMUSP00000147176 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066465
AA Change: A208T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: A208T

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
AA Change: A208T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207381

Predicted Effect

probably benign
Transcript: ENSMUST00000207387
AA Change: A208T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207440
AA Change: A208T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207796
AA Change: A208T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207813
AA Change: A208T

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	G	3: 90,061,733	V221G	probably benign	Het
Abca12	G	A	1: 71,295,013	A1110V	probably damaging	Het
Acsl6	C	A	11: 54,340,542	P462T	probably damaging	Het
Adcyap1	T	A	17: 93,202,281	Y53*	probably null	Het
Adgrg7	T	A	16: 56,752,425	I343F	probably damaging	Het
Agl	T	A	3: 116,786,777	K376M	possibly damaging	Het
Akna	A	G	4: 63,374,003	Y1142H	probably benign	Het
Anks1b	A	T	10: 90,921,296	T182S	probably benign	Het
Apol7e	T	A	15: 77,714,382	Y16N	possibly damaging	Het
Bptf	G	T	11: 107,058,779	T2238K	possibly damaging	Het
Ccdc87	A	G	19: 4,839,801	E107G	probably benign	Het
Ccng2	C	T	5: 93,270,921	A135V	probably benign	Het
Chd8	C	A	14: 52,204,109	R842L	probably damaging	Het
Cldn18	T	A	9: 99,709,942	T3S	probably benign	Het
Dhcr7	T	C	7: 143,836,731		probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dusp26	T	C	8: 31,096,297	V182A	probably damaging	Het
Eif3e	T	C	15: 43,252,296	D358G	possibly damaging	Het
Epha3	A	T	16: 63,568,443	L814H	probably damaging	Het
Flnc	A	G	6: 29,454,319	N1877S	probably damaging	Het
Fpgs	A	T	2: 32,687,941	Y156*	probably null	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm5591	T	C	7: 38,521,895	D250G	probably benign	Het
Gtf2e2	C	T	8: 33,776,015	R240*	probably null	Het
Hells	G	T	19: 38,954,810	Q519H	probably benign	Het
Hscb	A	G	5: 110,839,494		probably null	Het
Inpp5k	T	A	11: 75,646,814	I350N	probably damaging	Het
Irf9	G	A	14: 55,606,342	V221I	possibly damaging	Het
Itga8	A	T	2: 12,253,469	Y261*	probably null	Het
Lama1	C	T	17: 67,786,019	T1684M	probably benign	Het
Lrp2	A	T	2: 69,438,467	H4157Q	probably damaging	Het
Nceh1	G	T	3: 27,222,807	R93L	probably damaging	Het
Nell2	A	G	15: 95,385,144	F339S	probably damaging	Het
Olfr331	A	T	11: 58,502,012	C181*	probably null	Het
Phf11a	C	A	14: 59,284,368	C118F	probably damaging	Het
Purg	A	G	8: 33,386,423	K30E	possibly damaging	Het
Qprt	C	T	7: 127,108,929	R110H	probably damaging	Het
Robo2	T	C	16: 73,928,151	T1055A	probably benign	Het
Serpina3a	T	C	12: 104,112,878	F10L	probably benign	Het
Sidt1	A	T	16: 44,300,935		probably null	Het
Slc4a4	T	A	5: 89,046,372	M237K	probably benign	Het
Slitrk5	A	T	14: 111,680,252	D436V	probably damaging	Het
Snd1	T	C	6: 28,888,289	Y908H	probably damaging	Het
Sorcs1	A	G	19: 50,144,124	V1132A	probably benign	Het
Speer3	A	G	5: 13,793,355	E92G	probably damaging	Het
Ssfa2	G	A	2: 79,655,119	D506N	probably damaging	Het
Strada	T	C	11: 106,173,317	E58G	possibly damaging	Het
Tbx10	A	T	19: 3,997,312	K139*	probably null	Het
Tcf4	T	C	18: 69,633,580	Y25H	probably damaging	Het
Tmem108	C	T	9: 103,499,761	R163H	possibly damaging	Het
Top2b	A	G	14: 16,399,026	T549A	possibly damaging	Het
Tpcn2	A	G	7: 145,279,343	I46T	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vipr2	T	A	12: 116,122,743	Y129*	probably null	Het
Vps37a	A	T	8: 40,540,708	Q248L	probably benign	Het
Wrap53	T	C	11: 69,577,685	I179V	probably benign	Het
Zan	G	A	5: 137,452,488	A1609V	unknown	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zbtb5	G	A	4: 44,993,459	R642W	probably damaging	Het
Zfyve27	A	G	19: 42,182,657		probably null	Het
Zufsp	T	C	10: 33,949,256	N77D	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
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
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
R8797:Acsm5	UTSW	7	119538151	missense	probably damaging	1.00
Z1088:Acsm5	UTSW	7	119537211	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGCATTTCCTCAACTGAAACTC -3'
(R):5'- TTCAGACCTCCGAGACATACTC -3'

Sequencing Primer
(F):5'- CTGTGATAACTCCAGCTGTGTCAAG -3'
(R):5'- CGAGACATACTCTTCCAATACCTTC -3'

Posted On

2018-04-27