Mutagenetix > Incidental Mutations

Incidental Mutation 'R0195:Oas3'

60740

Institutional Source

Beutler Lab

Gene Symbol

Oas3

Ensembl Gene

ENSMUSG00000032661

Gene Name

2'-5' oligoadenylate synthetase 3

Synonyms

Oasl10, 2'-5' oligoadenylate synthetase-like 10

MMRRC Submission

038454-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R0195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120753098-120777661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120756145 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 39 (R39C)

Ref Sequence

ENSEMBL: ENSMUSP00000125873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044833] [ENSMUST00000165820]

Predicted Effect

probably damaging
Transcript: ENSMUST00000044833
AA Change: R1047C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035588
Gene: ENSMUSG00000032661
AA Change: R1047C

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	159	341	6.3e-83	PFAM
Pfam:OAS1_C	610	795	3.1e-78	PFAM
Pfam:NTP_transf_2	831	920	4.5e-11	PFAM
Pfam:OAS1_C	954	1136	9e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165820
AA Change: R39C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125873
Gene: ENSMUSG00000032661
AA Change: R39C

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	1	130	3.8e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200795

Meta Mutation Damage Score

0.8791

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,512,974	R362P	possibly damaging	Het
Adam24	T	A	8: 40,681,766	W758R	probably benign	Het
Adam26b	G	T	8: 43,520,270	T565K	probably damaging	Het
Adam7	T	G	14: 68,527,627		probably benign	Het
Adamts19	A	G	18: 58,969,870		probably benign	Het
Add1	A	G	5: 34,610,646		probably benign	Het
Ago1	A	G	4: 126,463,691	C64R	probably benign	Het
Ankrd12	C	T	17: 66,049,948		probably null	Het
Arhgef33	A	G	17: 80,381,434	K820E	probably damaging	Het
Arl9	T	C	5: 77,006,494	V8A	probably damaging	Het
Aspm	T	C	1: 139,479,135	L1920P	probably damaging	Het
Atad2	A	G	15: 58,099,954		probably benign	Het
Atp2b2	A	T	6: 113,793,874	V358E	probably benign	Het
C3ar1	A	C	6: 122,851,155	C34W	possibly damaging	Het
C6	G	A	15: 4,763,471	V353M	probably benign	Het
Capn7	T	C	14: 31,365,581	I593T	probably damaging	Het
Casc3	T	A	11: 98,821,493	D119E	probably damaging	Het
Ccna1	T	A	3: 55,054,364	E45V	probably damaging	Het
Cdc37	A	G	9: 21,142,280	V180A	probably benign	Het
Cdh23	A	G	10: 60,317,059	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988		probably benign	Het
Cngb3	A	T	4: 19,280,975	M15L	probably benign	Het
Crygn	A	G	5: 24,756,038	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,940,088	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,364,321		noncoding transcript	Het
Ddx24	C	T	12: 103,418,961		probably null	Het
Dnah3	A	T	7: 120,077,775		probably null	Het
Dnah9	C	T	11: 65,895,905	G3634E	probably benign	Het
Dnttip2	A	T	3: 122,276,161	T342S	probably benign	Het
Evx2	G	T	2: 74,659,044	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,770,798	L40Q	probably damaging	Het
Git1	T	A	11: 77,501,073	D240E	probably benign	Het
Glp2r	T	A	11: 67,709,708	K438N	probably damaging	Het
Gm4778	A	G	3: 94,265,922	Y79C	possibly damaging	Het
Hivep1	T	A	13: 42,156,153	I623N	probably benign	Het
Il17re	A	G	6: 113,466,137	E312G	probably damaging	Het
Itgb7	G	A	15: 102,222,183		probably benign	Het
Itpr3	A	G	17: 27,114,114	Y1900C	probably damaging	Het
Krt2	G	A	15: 101,813,191	Q472*	probably null	Het
Krtap5-1	A	C	7: 142,296,697	C125G	unknown	Het
Macf1	A	G	4: 123,434,916	S2554P	probably damaging	Het
March10	C	T	11: 105,385,525	G646R	probably damaging	Het
Mrpl48	A	C	7: 100,546,353		probably benign	Het
Myo16	A	T	8: 10,315,538		probably benign	Het
Nrcam	A	T	12: 44,584,845	E1060D	probably benign	Het
Nsd3	T	A	8: 25,680,693	C731S	probably damaging	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Nxnl2	G	T	13: 51,171,447	R42L	probably damaging	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Orc1	C	T	4: 108,614,308	R786*	probably null	Het
P2ry6	A	T	7: 100,938,697	W152R	probably damaging	Het
Pex5l	T	C	3: 32,992,953	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,207,731	I269V	probably benign	Het
Phgdh	T	G	3: 98,316,550		probably benign	Het
Pzp	A	T	6: 128,487,478	L1362Q	probably damaging	Het
Rbbp9	T	C	2: 144,548,106		probably benign	Het
Rffl	A	G	11: 82,810,163	L244P	probably damaging	Het
Serpina11	T	C	12: 103,985,872	Y213C	probably damaging	Het
Srsf11	A	G	3: 158,036,535		probably benign	Het
Sspo	T	A	6: 48,486,636	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,293,059	D74V	probably damaging	Het
Tmprss15	T	A	16: 79,034,334	T393S	probably benign	Het
Tnfaip3	A	G	10: 19,005,713	L275P	probably damaging	Het
Trim30c	A	G	7: 104,382,429	V393A	probably benign	Het
Tssk2	T	A	16: 17,899,575	S281T	probably benign	Het
Tubb4a	A	G	17: 57,081,499	S176P	probably damaging	Het
Unc45b	T	A	11: 82,937,828	M785K	probably damaging	Het
Vldlr	A	T	19: 27,238,386	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,835,585	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,574,055	L784Q	probably benign	Het
Vps13b	A	G	15: 35,471,899	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,847	M373T	probably damaging	Het
Zmym1	A	G	4: 127,047,911	F895L	possibly damaging	Het

Other mutations in Oas3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Oas3	APN	5	120777442	splice site	probably benign
IGL01095:Oas3	APN	5	120772889	missense	probably damaging	1.00
IGL01835:Oas3	APN	5	120766128	nonsense	probably null
IGL02006:Oas3	APN	5	120769235	missense	probably benign	0.00
IGL02811:Oas3	APN	5	120764322	missense	unknown
IGL03194:Oas3	APN	5	120758953	missense	probably damaging	1.00
R0066:Oas3	UTSW	5	120758875	missense	probably damaging	1.00
R0196:Oas3	UTSW	5	120756145	missense	probably damaging	1.00
R0197:Oas3	UTSW	5	120756145	missense	probably damaging	1.00
R0445:Oas3	UTSW	5	120756145	missense	probably damaging	1.00
R0523:Oas3	UTSW	5	120766144	missense	unknown
R0592:Oas3	UTSW	5	120771149	missense	probably damaging	1.00
R0946:Oas3	UTSW	5	120769063	missense	unknown
R1354:Oas3	UTSW	5	120770000	missense	possibly damaging	0.94
R1642:Oas3	UTSW	5	120777574	missense	possibly damaging	0.90
R1681:Oas3	UTSW	5	120769908	missense	probably benign	0.22
R1844:Oas3	UTSW	5	120759980	missense	probably damaging	0.99
R1981:Oas3	UTSW	5	120761835	splice site	probably benign
R2443:Oas3	UTSW	5	120777488	missense	probably benign	0.35
R2902:Oas3	UTSW	5	120758917	missense	probably damaging	1.00
R3034:Oas3	UTSW	5	120771056	missense	probably damaging	1.00
R4565:Oas3	UTSW	5	120771039	missense	probably damaging	1.00
R4692:Oas3	UTSW	5	120769355	missense	probably benign	0.03
R4723:Oas3	UTSW	5	120766256	missense	unknown
R4812:Oas3	UTSW	5	120761147	unclassified	probably benign
R5288:Oas3	UTSW	5	120756990	missense	probably damaging	1.00
R5343:Oas3	UTSW	5	120756238	missense	possibly damaging	0.70
R5494:Oas3	UTSW	5	120761644	missense	unknown
R5688:Oas3	UTSW	5	120758802	missense	probably benign	0.31
R5894:Oas3	UTSW	5	120756954	missense	probably damaging	1.00
R5921:Oas3	UTSW	5	120769981	missense	probably damaging	1.00
R6037:Oas3	UTSW	5	120769319	missense	probably benign	0.41
R6037:Oas3	UTSW	5	120769319	missense	probably benign	0.41
R6066:Oas3	UTSW	5	120772924	missense	probably damaging	0.97
R6104:Oas3	UTSW	5	120761693	missense	unknown
R6134:Oas3	UTSW	5	120769048	missense	unknown
R6255:Oas3	UTSW	5	120771230	missense	probably benign	0.04
R6257:Oas3	UTSW	5	120761135	unclassified	probably benign
R6776:Oas3	UTSW	5	120758874	missense	probably damaging	1.00
RF006:Oas3	UTSW	5	120774100	missense	probably damaging	1.00
X0024:Oas3	UTSW	5	120761728	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAGGTGACCCAGAAGCTGACTAC -3'
(R):5'- TGCCAATGTGAACCTACACATCTCC -3'

Sequencing Primer
(F):5'- AGCACCACTCTGGGAAGC -3'
(R):5'- GTGAACCTACACATCTCCTGTCC -3'

Posted On

2013-07-24