Mutagenetix > Incidental Mutation

Incidental Mutation 'R4913:Acsm5'

379703

Institutional Source

Beutler Lab

Gene Symbol

Acsm5

Ensembl Gene

ENSMUSG00000030972

Gene Name

acyl-CoA synthetase medium-chain family member 5

Synonyms

C730027J19Rik

MMRRC Submission

042515-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R4913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119519463-119545551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119534343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 244 (S244P)

Ref Sequence

ENSEMBL: ENSMUSP00000147176 (fasta)

Gene Model

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

AlphaFold

Q8BGA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066465
AA Change: S244P

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: S244P

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 damaging
Transcript: ENSMUST00000207307
AA Change: S244P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000207381

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207387
AA Change: S244P

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207440
AA Change: S244P

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207796
AA Change: S244P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207813
AA Change: S244P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	G	6: 149,329,389	S1311C	probably damaging	Het
9430007A20Rik	T	A	4: 144,528,811	M267K	possibly damaging	Het
Actr6	A	G	10: 89,714,946	F329L	probably benign	Het
Actrt3	A	G	3: 30,598,439	S169P	probably benign	Het
Agtpbp1	C	A	13: 59,500,072	G645C	probably damaging	Het
AI661453	C	T	17: 47,468,555	R1069*	probably null	Het
Akr1c6	T	C	13: 4,454,525	I303T	probably benign	Het
Arnt	A	G	3: 95,490,654	R588G	probably damaging	Het
Atf1	A	G	15: 100,252,098		probably null	Het
BC052040	A	G	2: 115,670,087		probably null	Het
Casp12	T	C	9: 5,358,726	V318A	probably damaging	Het
Cblb	C	T	16: 52,166,029	P545L	possibly damaging	Het
Cc2d2a	A	T	5: 43,739,323	I1521F	probably benign	Het
Ccnb1ip1	T	A	14: 50,792,144	K154*	probably null	Het
Cd300a	A	T	11: 114,893,372	K69*	probably null	Het
Clec10a	A	G	11: 70,170,025	Y78C	probably damaging	Het
Cnot1	T	C	8: 95,763,067	I503V	possibly damaging	Het
Cpa2	A	G	6: 30,554,293	H304R	probably damaging	Het
Crb2	A	T	2: 37,790,245	H395L	probably benign	Het
Ctgf	T	C	10: 24,597,327	C255R	probably damaging	Het
Dnah8	T	A	17: 30,819,139	N4257K	probably damaging	Het
Dnase2a	G	A	8: 84,908,848	D25N	probably damaging	Het
Drd1	T	C	13: 54,053,167	T343A	probably benign	Het
Emid1	G	A	11: 5,132,012	T161I	probably benign	Het
Epn2	A	G	11: 61,534,576		probably null	Het
Esp36	A	T	17: 38,417,164	N75K	possibly damaging	Het
Faf1	A	G	4: 109,935,549	S573G	possibly damaging	Het
Fam149a	T	G	8: 45,353,883	S231R	probably damaging	Het
Fam78a	T	C	2: 32,069,762	E112G	probably damaging	Het
Fgf18	T	C	11: 33,134,316	D46G	probably benign	Het
Fggy	G	A	4: 95,697,076		probably null	Het
Foxb1	T	C	9: 69,759,577	M224V	probably benign	Het
Gpr75	T	C	11: 30,891,808	C238R	possibly damaging	Het
Gsdmc3	A	G	15: 63,858,273	*481R	probably null	Het
H2afv	C	A	11: 6,433,750	A57S	probably damaging	Het
Hsd17b11	T	C	5: 103,992,882	I250V	probably benign	Het
Hus1	C	A	11: 8,996,856	L280F	probably benign	Het
Ide	A	T	19: 37,329,070	H101Q	unknown	Het
Ido1	T	C	8: 24,584,517	D279G	probably benign	Het
Inpp5b	T	C	4: 124,780,421	V307A	probably benign	Het
Ipo5	G	A	14: 120,935,086	V519I	probably damaging	Het
Krba1	T	C	6: 48,406,957	V239A	probably benign	Het
Lmod3	A	G	6: 97,247,164		probably null	Het
Macf1	T	C	4: 123,499,889	D836G	probably damaging	Het
Malt1	G	T	18: 65,476,280	C774F	probably damaging	Het
Map2k4	C	A	11: 65,709,932	D58Y	probably damaging	Het
Mc2r	T	C	18: 68,407,340	N294S	probably benign	Het
Mybpc1	A	G	10: 88,553,254		probably null	Het
Mybpc3	A	G	2: 91,126,264	E637G	possibly damaging	Het
Narf	A	G	11: 121,244,643	Q107R	probably damaging	Het
Nlrp3	G	A	11: 59,549,238	G547D	probably benign	Het
Nucb2	G	T	7: 116,524,305	G51*	probably null	Het
Olfr121	T	A	17: 37,752,424	V190D	possibly damaging	Het
Otog	C	A	7: 46,264,102	D786E	probably benign	Het
Otogl	T	C	10: 107,876,855	T543A	probably damaging	Het
Phf20l1	A	G	15: 66,604,855	N266S	probably benign	Het
Pink1	G	T	4: 138,315,555	S446*	probably null	Het
Pkp4	T	G	2: 59,305,450	H186Q	probably damaging	Het
Prl3b1	T	C	13: 27,249,477	V205A	probably damaging	Het
Prss32	T	C	17: 23,859,183	V281A	probably damaging	Het
Psd3	C	T	8: 68,121,169	C120Y	probably damaging	Het
Ptcra	A	G	17: 46,758,648	L99P	probably damaging	Het
Rab3gap2	C	T	1: 185,262,829	T855I	probably benign	Het
Rabgap1l	T	C	1: 160,238,541	E199G	probably damaging	Het
Rbm44	T	A	1: 91,155,494	C580S	probably damaging	Het
Rhoq	T	C	17: 86,995,065	V143A	probably benign	Het
Sacs	T	A	14: 61,213,797	Y4431N	probably benign	Het
Sec24b	A	T	3: 130,002,379	S367T	probably benign	Het
Sema4c	G	A	1: 36,550,185	S620F	probably benign	Het
Slc12a1	G	A	2: 125,228,750	G1054E	probably damaging	Het
Slc16a3	A	G	11: 120,957,968	R417G	probably benign	Het
Slc22a29	A	T	19: 8,218,358	S106T	probably benign	Het
Slc41a2	T	C	10: 83,313,420	T220A	probably damaging	Het
Tap1	T	C	17: 34,193,494	F474L	possibly damaging	Het
Tas2r106	G	T	6: 131,678,459	A143D	probably benign	Het
Tbx6	A	T	7: 126,784,535		probably null	Het
Tfap2a	T	A	13: 40,717,230	N402I	probably damaging	Het
Tle3	T	A	9: 61,373,993	V22E	probably damaging	Het
Tmem8	T	C	17: 26,120,539	F584L	probably damaging	Het
Trip4	T	C	9: 65,858,357	I353M	probably damaging	Het
Ubr2	C	A	17: 46,959,459		probably null	Het
Ugdh	A	G	5: 65,423,448		probably null	Het
Uhrf1	T	C	17: 56,315,478	V431A	probably damaging	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Zfp820	T	C	17: 21,819,219	K376R	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
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
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'- ACATGATGTGTTGAAACGGTCC -3'
(R):5'- AACAGGTCCTGTGCTTTCTCAAC -3'

Sequencing Primer
(F):5'- GATGTGTTGAAACGGTCCTACCAC -3'
(R):5'- GGTCCTGTGCTTTCTCAACGAAAAG -3'

Posted On

2016-04-15