Mutagenetix > Incidental Mutations

Incidental Mutation 'R8797:Acsm5'

671310

Institutional Source

Beutler Lab

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: 0.242) question?

Stock #

R8797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119519463-119545551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119538151 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 397 (P397T)

Ref Sequence

ENSEMBL: ENSMUSP00000063416 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066465
AA Change: P397T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: P397T

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: H86Q

Predicted Effect

probably benign
Transcript: ENSMUST00000207387

Predicted Effect

probably damaging
Transcript: ENSMUST00000207440
AA Change: P397T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207796
AA Change: P397T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000207813

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,750,396	S1149P	possibly damaging	Het
Adamts14	C	T	10: 61,271,002	R113K	probably benign	Het
Baiap2	G	A	11: 120,006,375	V519I	probably benign	Het
Ccna1	C	T	3: 55,045,648	A233T	probably benign	Het
Cdon	T	C	9: 35,478,635	Y862H	probably damaging	Het
Crygc	C	T	1: 65,071,871	A86T	probably benign	Het
Cyb5d2	T	G	11: 72,778,836	N232T	probably benign	Het
Dnah14	C	A	1: 181,637,847	H1193N	probably benign	Het
Dnah17	T	G	11: 118,101,375	E1170A	probably benign	Het
Dnah7b	A	G	1: 46,123,646	Y384C	probably damaging	Het
Fat4	G	A	3: 38,999,129	V4091I	probably benign	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
G6pc2	A	G	2: 69,220,097	Y22C	probably benign	Het
Gpihbp1	A	T	15: 75,597,979	Q181L	possibly damaging	Het
Hhatl	A	T	9: 121,790,899		probably benign	Het
Hist1h2bc	C	T	13: 23,684,569	S113L	probably damaging	Het
Iars	C	A	13: 49,688,262	S75R	probably benign	Het
Igfn1	T	A	1: 135,974,835	I375F	possibly damaging	Het
Itih4	A	G	14: 30,896,572	I647V	probably benign	Het
Jmjd1c	T	A	10: 67,224,837	C703S	probably benign	Het
L3mbtl2	C	T	15: 81,685,414	T619I	possibly damaging	Het
Lct	T	C	1: 128,303,947	T722A	possibly damaging	Het
Meioc	C	T	11: 102,676,860	Q827*	probably null	Het
Meis2	T	C	2: 115,864,505	S386G	probably benign	Het
Mroh8	T	A	2: 157,229,956	D543V	probably damaging	Het
Ms4a13	C	T	19: 11,183,836	R113H	probably benign	Het
Myrfl	T	C	10: 116,777,420	Y826C	probably benign	Het
Nf1	T	C	11: 79,475,885		probably benign	Het
Nrg3	A	C	14: 38,371,286	L542R	probably benign	Het
Olfr1373	T	A	11: 52,145,513	T6S	probably benign	Het
Olfr71	T	C	4: 43,706,455	T38A	probably damaging	Het
Olfr808	T	A	10: 129,767,805	I103K	probably damaging	Het
Pcdh15	A	G	10: 74,584,146	N1212S	probably damaging	Het
Pcsk5	G	A	19: 17,466,108	T1229I	probably benign	Het
Pkd1l3	A	T	8: 109,648,314	H1483L	probably benign	Het
Polr3b	T	A	10: 84,697,015	L840*	probably null	Het
Ppp1r32	T	C	19: 10,478,238	I216V	probably benign	Het
Psd4	A	T	2: 24,397,428	R457S	probably benign	Het
Rgs12	A	G	5: 35,029,571	S194G		Het
Rps3	A	G	7: 99,483,590		probably null	Het
Sgcb	G	T	5: 73,635,693	N255K	probably benign	Het
Sla2	A	G	2: 156,875,879	Y158H	probably damaging	Het
Sla2	G	A	2: 156,875,903	Q150*	probably null	Het
Slc12a2	T	A	18: 57,879,383	Y193N	possibly damaging	Het
Supt16	G	T	14: 52,172,503	T749K	probably damaging	Het
Uqcrc2	A	G	7: 120,640,277	E104G	probably damaging	Het
Vasp	T	C	7: 19,260,638	N251S	unknown	Het
Vmn1r72	A	G	7: 11,670,038	M161T	probably benign	Het
Zc3h18	T	C	8: 122,408,250		probably benign	Het
Zfp981	T	A	4: 146,535,449	L20*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCTCATGAAGGCTTGTTTGC -3'
(R):5'- GATTCGGACAGCAATATTTCCCTC -3'

Sequencing Primer
(F):5'- GCTTGTTTGCCATGGAAAAGAC -3'
(R):5'- CCTCTTTTCCTGGAGGCAGG -3'

Posted On

2021-04-30