Mutagenetix > Incidental Mutation

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

MMRRC Submission

068638-MU

Accession Numbers

Essential gene?

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

Stock #

R8797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119125354-119142583 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119137374 bp (GRCm39)

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]

AlphaFold

Q8BGA8

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
Adamts14	C	T	10: 61,106,781 (GRCm39)	R113K	probably benign	Het
Baiap2	G	A	11: 119,897,201 (GRCm39)	V519I	probably benign	Het
Ccna1	C	T	3: 54,953,069 (GRCm39)	A233T	probably benign	Het
Cdon	T	C	9: 35,389,931 (GRCm39)	Y862H	probably damaging	Het
Crygc	C	T	1: 65,111,030 (GRCm39)	A86T	probably benign	Het
Cyb5d2	T	G	11: 72,669,662 (GRCm39)	N232T	probably benign	Het
Dnah14	C	A	1: 181,465,412 (GRCm39)	H1193N	probably benign	Het
Dnah17	T	G	11: 117,992,201 (GRCm39)	E1170A	probably benign	Het
Dnah7b	A	G	1: 46,162,806 (GRCm39)	Y384C	probably damaging	Het
Fat4	G	A	3: 39,053,278 (GRCm39)	V4091I	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
G6pc2	A	G	2: 69,050,441 (GRCm39)	Y22C	probably benign	Het
Gpihbp1	A	T	15: 75,469,828 (GRCm39)	Q181L	possibly damaging	Het
H2bc4	C	T	13: 23,868,552 (GRCm39)	S113L	probably damaging	Het
Hhatl	A	T	9: 121,619,965 (GRCm39)		probably benign	Het
Iars1	C	A	13: 49,841,738 (GRCm39)	S75R	probably benign	Het
Igfn1	T	A	1: 135,902,573 (GRCm39)	I375F	possibly damaging	Het
Itih4	A	G	14: 30,618,529 (GRCm39)	I647V	probably benign	Het
Jmjd1c	T	A	10: 67,060,616 (GRCm39)	C703S	probably benign	Het
L3mbtl2	C	T	15: 81,569,615 (GRCm39)	T619I	possibly damaging	Het
Lct	T	C	1: 128,231,684 (GRCm39)	T722A	possibly damaging	Het
Meioc	C	T	11: 102,567,686 (GRCm39)	Q827*	probably null	Het
Meis2	T	C	2: 115,694,986 (GRCm39)	S386G	probably benign	Het
Mroh8	T	A	2: 157,071,876 (GRCm39)	D543V	probably damaging	Het
Ms4a13	C	T	19: 11,161,200 (GRCm39)	R113H	probably benign	Het
Myrfl	T	C	10: 116,613,325 (GRCm39)	Y826C	probably benign	Het
Nf1	T	C	11: 79,366,711 (GRCm39)		probably benign	Het
Nrg3	A	C	14: 38,093,243 (GRCm39)	L542R	probably benign	Het
Or13j1	T	C	4: 43,706,455 (GRCm39)	T38A	probably damaging	Het
Or2y8	T	A	11: 52,036,340 (GRCm39)	T6S	probably benign	Het
Or6c65	T	A	10: 129,603,674 (GRCm39)	I103K	probably damaging	Het
Pcdh15	A	G	10: 74,419,978 (GRCm39)	N1212S	probably damaging	Het
Pcsk5	G	A	19: 17,443,472 (GRCm39)	T1229I	probably benign	Het
Pkd1l3	A	T	8: 110,374,946 (GRCm39)	H1483L	probably benign	Het
Polr3b	T	A	10: 84,532,879 (GRCm39)	L840*	probably null	Het
Psd4	A	T	2: 24,287,440 (GRCm39)	R457S	probably benign	Het
Relch	T	C	1: 105,678,121 (GRCm39)	S1149P	possibly damaging	Het
Rgs12	A	G	5: 35,186,915 (GRCm39)	S194G		Het
Rps3	A	G	7: 99,132,797 (GRCm39)		probably null	Het
Saxo4	T	C	19: 10,455,602 (GRCm39)	I216V	probably benign	Het
Sgcb	G	T	5: 73,793,036 (GRCm39)	N255K	probably benign	Het
Sla2	A	G	2: 156,717,799 (GRCm39)	Y158H	probably damaging	Het
Sla2	G	A	2: 156,717,823 (GRCm39)	Q150*	probably null	Het
Slc12a2	T	A	18: 58,012,455 (GRCm39)	Y193N	possibly damaging	Het
Supt16	G	T	14: 52,409,960 (GRCm39)	T749K	probably damaging	Het
Uqcrc2	A	G	7: 120,239,500 (GRCm39)	E104G	probably damaging	Het
Vasp	T	C	7: 18,994,563 (GRCm39)	N251S	unknown	Het
Vmn1r72	A	G	7: 11,403,965 (GRCm39)	M161T	probably benign	Het
Zc3h18	T	C	8: 123,134,989 (GRCm39)		probably benign	Het
Zfp981	T	A	4: 146,619,906 (GRCm39)	L20*	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
R4670:Acsm5	UTSW	7	119,130,983 (GRCm39)	splice site	probably null
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
Z1088:Acsm5	UTSW	7	119,136,434 (GRCm39)	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