Mutagenetix > Incidental Mutation

Incidental Mutation 'R7509:Acsm5'

581956

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

Essential gene?

Possibly non essential (E-score: 0.457) question?

Stock #

R7509 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119519463-119545551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119534388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 259 (S259G)

Ref Sequence

ENSEMBL: ENSMUSP00000147176 (fasta)

Gene Model

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

AlphaFold

Q8BGA8

Predicted Effect

probably benign
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
AA Change: S259G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207381

Predicted Effect

probably benign
Transcript: ENSMUST00000207387

Predicted Effect

probably benign
Transcript: ENSMUST00000207440

Predicted Effect

probably benign
Transcript: ENSMUST00000207796

Predicted Effect

probably benign
Transcript: ENSMUST00000207813
AA Change: S259G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	T	13: 70,787,164	N436K	probably damaging	Het
Asb3	T	A	11: 30,998,507	M61K	probably benign	Het
Catspere2	A	G	1: 178,077,512	T163A	possibly damaging	Het
Ccser2	A	G	14: 36,938,645	L517P	probably damaging	Het
Cd226	A	G	18: 89,247,071	T158A	probably benign	Het
Chd6	A	T	2: 161,013,154	I778N	probably damaging	Het
Cnga4	T	C	7: 105,406,890	V336A	probably benign	Het
Cpd	C	T	11: 76,797,876	V857I	probably benign	Het
Cpm	A	G	10: 117,659,840	Y78C	probably damaging	Het
Cst7	A	T	2: 150,577,704	T97S	probably benign	Het
Cttnbp2nl	T	C	3: 105,032,730	K8E	possibly damaging	Het
Erbb4	A	T	1: 68,250,580	D767E	possibly damaging	Het
Esyt2	T	C	12: 116,365,876	S685P	probably damaging	Het
Gcfc2	T	C	6: 81,953,275	L641P	probably damaging	Het
Gcnt4	T	A	13: 96,947,170	F325I	probably benign	Het
Glg1	T	G	8: 111,259,043	S52R	probably benign	Het
Gm10577	G	A	4: 101,020,651	L16F	unknown	Het
Gm14326	C	T	2: 177,945,700	G501D	probably benign	Het
Gm1587	G	A	14: 77,797,024	P35S	unknown	Het
Gpd1	G	A	15: 99,722,086	S255N	probably damaging	Het
Grrp1	A	C	4: 134,252,113	V18G	probably damaging	Het
Helb	T	A	10: 120,089,814	H886L	probably damaging	Het
Hgsnat	A	G	8: 25,955,726	V380A	probably damaging	Het
Hmbs	T	A	9: 44,336,911	R125S		Het
Hsd17b4	A	T	18: 50,164,682	Y346F	probably damaging	Het
Inpp4a	T	C	1: 37,387,830	L624P	probably damaging	Het
Irak2	AC	ACC	6: 113,690,898		probably null	Het
Itga11	C	T	9: 62,781,940	T1129I	probably benign	Het
Itih4	G	A	14: 30,895,447	V575I	probably benign	Het
Kcnn2	A	G	18: 45,683,120	T473A	probably benign	Het
Kidins220	T	C	12: 24,982,361	V31A	probably damaging	Het
Lrch1	G	A	14: 74,947,608	T18I	probably benign	Het
Ly6e	T	C	15: 74,958,286	F30L	probably damaging	Het
Med13l	A	G	5: 118,748,930	D1632G	probably damaging	Het
Mei4	T	A	9: 82,025,577	L320Q	probably damaging	Het
Mlip	T	G	9: 77,181,396	T197P	probably damaging	Het
Mon2	G	A	10: 123,032,552	A532V	probably benign	Het
Myh1	C	T	11: 67,210,461	P688S	probably benign	Het
Ncapg	G	A	5: 45,696,108	D900N	probably benign	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Ntn4	A	G	10: 93,710,568	N361S	probably benign	Het
Nudt16l1	T	A	16: 4,939,218	H26Q	probably damaging	Het
Obscn	G	A	11: 59,051,629	T4348I	probably benign	Het
Olfr898	T	A	9: 38,349,572	M157K	probably benign	Het
Olfr960	T	A	9: 39,623,327	I66N	probably damaging	Het
Pcdh7	T	A	5: 57,720,187	D361E	probably damaging	Het
Pcdhb7	C	A	18: 37,342,021	T70K	possibly damaging	Het
Pcdhga3	T	A	18: 37,675,857	Y454*	probably null	Het
Pigc	A	T	1: 161,970,976	T176S	probably benign	Het
Pola2	A	T	19: 5,961,166	S43R	probably benign	Het
Pole	A	T	5: 110,330,705		probably benign	Het
Polq	C	A	16: 37,060,343	D956E	probably benign	Het
Polq	T	A	16: 37,060,344	C957S	probably benign	Het
Ppp3cc	G	A	14: 70,266,682	T107I	probably damaging	Het
Prss39	C	A	1: 34,500,199	H173Q	possibly damaging	Het
Reep4	A	G	14: 70,548,488	D256G	probably benign	Het
Rfc3	A	G	5: 151,647,510	V107A	probably damaging	Het
Slc19a3	A	G	1: 83,026,260	L40P	probably damaging	Het
Slc29a4	C	T	5: 142,718,506	P305L	probably benign	Het
Strada	C	A	11: 106,187,094	V15F	unknown	Het
Suco	A	T	1: 161,845,334	S440T	probably damaging	Het
Svep1	A	T	4: 58,090,683	C1595S	probably benign	Het
Synpo	G	T	18: 60,603,494	T460K	probably damaging	Het
Tagap	A	T	17: 7,928,736	I93F	probably damaging	Het
Tmtc3	A	T	10: 100,466,094	F331Y	probably damaging	Het
Tnpo1	A	C	13: 98,870,243	I225M	probably benign	Het
Tollip	A	T	7: 141,892,141	M70K	probably benign	Het
Trpm7	A	T	2: 126,849,922	I171N	probably damaging	Het
Ttc41	G	T	10: 86,713,432	E163D	probably damaging	Het
Vmn2r17	A	T	5: 109,427,829	T189S	probably benign	Het
Vmn2r20	C	T	6: 123,385,423	V801I	probably benign	Het
Vmn2r82	G	A	10: 79,396,008	V614I	possibly damaging	Het
Vmn2r96	G	A	17: 18,582,733	E302K	probably benign	Het
Vwf	T	C	6: 125,642,169	F1270S		Het
Wdr3	A	T	3: 100,151,187	F367L	probably benign	Het
Zfp592	A	G	7: 81,038,340	S1005G	probably damaging	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
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
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'- ACATCTTTGGGACTGCTTGG -3'
(R):5'- TTGTGTCATAGCCTAGGAAGACAAG -3'

Sequencing Primer
(F):5'- GGGTGTTGTTTTAAGTTTCTCTTCC -3'
(R):5'- TCATAGCCTAGGAAGACAAGTTAAAG -3'

Posted On

2019-10-17