Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Oas3'

617443

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

067461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120753098-120777661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120756966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 986 (I986T)

Ref Sequence

ENSEMBL: ENSMUSP00000035588 (fasta)

Gene Model

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

AlphaFold

Q8VI93

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044833
AA Change: I986T

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035588
Gene: ENSMUSG00000032661
AA Change: I986T

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 benign
Transcript: ENSMUST00000165820

SMART Domains

Protein: ENSMUSP00000125873
Gene: ENSMUSG00000032661

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		probably null	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
R0195:Oas3	UTSW	5	120756145	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
R8137:Oas3	UTSW	5	120777500	missense	probably benign	0.07
R8967:Oas3	UTSW	5	120758842	missense	probably damaging	0.99
R9124:Oas3	UTSW	5	120774105	missense	probably damaging	1.00
R9287:Oas3	UTSW	5	120754689	missense	probably damaging	1.00
R9661:Oas3	UTSW	5	120766165	missense	unknown
R9745:Oas3	UTSW	5	120761219	missense	unknown
RF006:Oas3	UTSW	5	120774100	missense	probably damaging	1.00
X0024:Oas3	UTSW	5	120761728	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACCCGTGTCTCCTCTAATG -3'
(R):5'- GGGTCTCAAATCTCAAGGGACG -3'

Sequencing Primer
(F):5'- GAAATTTACTCAGGGCACAGTATCTG -3'
(R):5'- ACGCTAAGGGTCTCTCAGAC -3'

Posted On

2020-01-23