Mutagenetix > Incidental Mutation

Incidental Mutation 'R4670:Acsm5'

348363

Institutional Source

Beutler Lab

Gene Symbol

Acsm5

Ensembl Gene

ENSMUSG00000030972

Gene Name

acyl-CoA synthetase medium-chain family member 5

Synonyms

C730027J19Rik

MMRRC Submission

041926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R4670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119125354-119142583 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 119130983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147176 (fasta)

Gene Model

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

AlphaFold

Q8BGA8

Predicted Effect

probably null
Transcript: ENSMUST00000066465

SMART Domains

Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972

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 null
Transcript: ENSMUST00000207387

Predicted Effect

probably null
Transcript: ENSMUST00000207387

Predicted Effect

probably null
Transcript: ENSMUST00000207440

Predicted Effect

probably null
Transcript: ENSMUST00000207440

Predicted Effect

probably benign
Transcript: ENSMUST00000207796

Predicted Effect

probably null
Transcript: ENSMUST00000207813

Predicted Effect

probably null
Transcript: ENSMUST00000207813

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alb	T	A	5: 90,610,665 (GRCm39)	S82T	probably benign	Het
Arf4	A	G	14: 26,374,248 (GRCm39)		probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Arhgap32	A	G	9: 32,081,441 (GRCm39)	E153G	probably benign	Het
Arhgef18	T	A	8: 3,484,897 (GRCm39)	M200K	probably damaging	Het
Atp1a4	T	A	1: 172,062,567 (GRCm39)	N647Y	probably benign	Het
Atp5f1c	A	T	2: 10,064,428 (GRCm39)	L226Q	probably damaging	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cadm3	T	A	1: 173,174,013 (GRCm39)	T67S	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Chst7	C	A	X: 19,927,110 (GRCm39)	R386S	probably damaging	Het
Cyp4f37	A	T	17: 32,844,126 (GRCm39)	M77L	probably benign	Het
Dnah7b	A	T	1: 46,117,684 (GRCm39)	D50V	probably damaging	Het
Galnt4	A	G	10: 98,945,160 (GRCm39)	D295G	possibly damaging	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm6471	G	A	7: 142,385,360 (GRCm39)		noncoding transcript	Het
Gm6818	T	A	7: 38,101,981 (GRCm39)		noncoding transcript	Het
Gm9271	T	A	7: 39,013,734 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Ift140	C	A	17: 25,317,935 (GRCm39)		probably benign	Het
Itih5	A	C	2: 10,195,180 (GRCm39)	I191L	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kank1	T	C	19: 25,387,944 (GRCm39)	M511T	probably benign	Het
Krt74	A	T	15: 101,667,304 (GRCm39)		noncoding transcript	Het
Lrrc37a	A	G	11: 103,395,363 (GRCm39)	S21P	probably benign	Het
Lrrc8c	G	A	5: 105,756,240 (GRCm39)	V672I	probably benign	Het
Lypd4	T	C	7: 24,566,151 (GRCm39)	R58G	probably benign	Het
Magi1	A	T	6: 93,663,624 (GRCm39)		probably null	Het
Mefv	T	A	16: 3,526,071 (GRCm39)	L745F	possibly damaging	Het
Myh13	A	T	11: 67,255,564 (GRCm39)	K1645*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,171,382 (GRCm39)		noncoding transcript	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or51aa2	A	G	7: 103,188,393 (GRCm39)	V16A	possibly damaging	Het
Or6k6	T	A	1: 173,945,427 (GRCm39)	M52L	probably benign	Het
Or8k37	T	C	2: 86,469,512 (GRCm39)	D180G	possibly damaging	Het
P2ry12	T	C	3: 59,125,325 (GRCm39)		probably null	Het
Pcx	T	A	19: 4,669,916 (GRCm39)	V861E	probably damaging	Het
Pkp3	C	T	7: 140,662,612 (GRCm39)	P75S	probably benign	Het
Plscr4	T	C	9: 92,364,920 (GRCm39)		probably null	Het
Pole	A	G	5: 110,454,253 (GRCm39)	T923A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rhot2	A	C	17: 26,060,305 (GRCm39)		probably benign	Het
Rsrp1	A	G	4: 134,651,488 (GRCm39)	Y84C	unknown	Het
Sbf2	T	C	7: 109,934,606 (GRCm39)	K1348E	probably damaging	Het
Sgip1	A	T	4: 102,726,951 (GRCm39)	N53Y	probably damaging	Het
Snapc2	A	G	8: 4,304,998 (GRCm39)	T127A	possibly damaging	Het
Snx8	A	G	5: 140,341,713 (GRCm39)		probably null	Het
Spag8	A	G	4: 43,653,378 (GRCm39)		probably benign	Het
Srebf2	T	C	15: 82,076,503 (GRCm39)	F718L	probably damaging	Het
Szt2	C	G	4: 118,233,026 (GRCm39)		probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Tubgcp4	T	A	2: 121,004,146 (GRCm39)	Y62*	probably null	Het
Usp29	T	A	7: 6,965,914 (GRCm39)	S586T	possibly damaging	Het
Vasp	T	C	7: 18,998,350 (GRCm39)	N108S	probably benign	Het
Vmn1r214	A	G	13: 23,219,141 (GRCm39)	M212V	probably benign	Het
Wipi2	G	C	5: 142,645,345 (GRCm39)	A194P	probably benign	Het
Zbtb4	T	A	11: 69,667,355 (GRCm39)	I220N	probably damaging	Het
Zcchc2	A	T	1: 105,917,996 (GRCm39)		probably benign	Het
Zfp729a	T	A	13: 67,769,534 (GRCm39)	K232*	probably null	Het
Zfp995	A	T	17: 22,106,320 (GRCm39)	M1K	probably null	Het

Other mutations in Acsm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Acsm5	APN	7	119,141,661 (GRCm39)	critical splice donor site	probably null
IGL01662:Acsm5	APN	7	119,137,511 (GRCm39)	missense	probably damaging	1.00
IGL02228:Acsm5	APN	7	119,131,089 (GRCm39)	missense	probably damaging	1.00
IGL02380:Acsm5	APN	7	119,136,509 (GRCm39)	missense	probably benign	0.05
IGL02709:Acsm5	APN	7	119,134,041 (GRCm39)	nonsense	probably null
P4717OSA:Acsm5	UTSW	7	119,131,195 (GRCm39)	missense	probably benign	0.12
R0506:Acsm5	UTSW	7	119,137,319 (GRCm39)	nonsense	probably null
R0518:Acsm5	UTSW	7	119,135,023 (GRCm39)	missense	possibly damaging	0.95
R0866:Acsm5	UTSW	7	119,140,123 (GRCm39)	missense	probably damaging	0.99
R1171:Acsm5	UTSW	7	119,140,075 (GRCm39)	missense	probably damaging	0.99
R2362:Acsm5	UTSW	7	119,127,649 (GRCm39)	start gained	probably benign
R2511:Acsm5	UTSW	7	119,129,677 (GRCm39)	missense	possibly damaging	0.80
R4908:Acsm5	UTSW	7	119,137,314 (GRCm39)	missense	probably damaging	1.00
R4913:Acsm5	UTSW	7	119,133,566 (GRCm39)	missense	probably damaging	0.98
R5038:Acsm5	UTSW	7	119,134,034 (GRCm39)	missense	probably damaging	1.00
R5112:Acsm5	UTSW	7	119,136,502 (GRCm39)	missense	possibly damaging	0.95
R6337:Acsm5	UTSW	7	119,133,458 (GRCm39)	missense	probably benign	0.00
R6481:Acsm5	UTSW	7	119,134,104 (GRCm39)	missense	probably benign	0.02
R7268:Acsm5	UTSW	7	119,136,511 (GRCm39)	missense	probably benign	0.38
R7275:Acsm5	UTSW	7	119,136,511 (GRCm39)	missense	possibly damaging	0.81
R7509:Acsm5	UTSW	7	119,133,611 (GRCm39)	missense	probably benign
R7794:Acsm5	UTSW	7	119,137,352 (GRCm39)	unclassified	probably benign
R8021:Acsm5	UTSW	7	119,141,616 (GRCm39)	missense	possibly damaging	0.72
R8178:Acsm5	UTSW	7	119,141,618 (GRCm39)	missense	probably damaging	1.00
R8797:Acsm5	UTSW	7	119,137,374 (GRCm39)	missense	probably damaging	1.00
Z1088:Acsm5	UTSW	7	119,136,434 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACGGTTCTGCATCCCTCCAT -3'
(R):5'- CAGAAGCTTGGTTTGGAGGG -3'

Sequencing Primer
(F):5'- AAGAGTGACACCTGAGGTTGTCTC -3'
(R):5'- TTTGGAGGGAGGGACAGTC -3'

Posted On

2015-10-08