Mutagenetix > Incidental Mutations

Incidental Mutation 'R5343:Oas3'

422435

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

042922-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120753098-120777661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120756238 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1016 (S1016P)

Ref Sequence

ENSEMBL: ENSMUSP00000035588 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044833
AA Change: S1016P

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035588
Gene: ENSMUSG00000032661
AA Change: S1016P

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
AA Change: S8P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125873
Gene: ENSMUSG00000032661
AA Change: S8P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	C	A	17: 46,773,036	A75E	probably damaging	Het
5730559C18Rik	G	T	1: 136,225,442	H237Q	probably benign	Het
Adck5	G	A	15: 76,595,580	R560H	probably damaging	Het
Ahctf1	A	T	1: 179,770,634	Y964*	probably null	Het
Alg8	T	C	7: 97,386,919	I339T	possibly damaging	Het
Alox5	T	C	6: 116,413,507	D503G	possibly damaging	Het
Camk4	A	G	18: 33,078,069	T76A	probably damaging	Het
Cdh3	T	C	8: 106,552,936	V728A	probably benign	Het
Chd4	T	A	6: 125,120,363	N1326K	probably damaging	Het
Cnn1	A	T	9: 22,105,410	Y48F	probably benign	Het
Dnah6	T	A	6: 73,212,616	E16D	probably benign	Het
Ezh2	A	G	6: 47,576,615	L56S	probably damaging	Het
F13b	T	C	1: 139,510,544	V299A	possibly damaging	Het
Hydin	T	C	8: 110,485,419	S1279P	probably benign	Het
Ift172	T	C	5: 31,263,812	M981V	probably benign	Het
Lpl	T	A	8: 68,895,737	V206E	probably damaging	Het
Mre11a	A	G	9: 14,811,834	D368G	probably damaging	Het
Mreg	G	A	1: 72,160,958	P191L	probably damaging	Het
Mtif2	G	T	11: 29,536,964	A134S	probably damaging	Het
Mxd4	T	C	5: 34,177,730	S114G	probably benign	Het
Myo1b	T	C	1: 51,778,537	Q522R	probably benign	Het
Ncapd3	GGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTG	9: 27,088,053		probably benign	Het
Ninl	T	C	2: 150,971,190	E182G	probably benign	Het
Notch3	T	C	17: 32,143,283	N1456S	probably benign	Het
Npr1	G	T	3: 90,458,208	N648K	possibly damaging	Het
Olfr1499	T	C	19: 13,814,960	N210S	probably damaging	Het
Olfr518	C	T	7: 108,880,998	V203M	possibly damaging	Het
Palld	A	G	8: 61,549,815		probably benign	Het
Patj	T	G	4: 98,676,193	I1021S	probably damaging	Het
Pfpl	T	A	19: 12,428,688	L101Q	probably damaging	Het
Pilrb2	T	A	5: 137,870,966	E124V	possibly damaging	Het
Pomk	A	G	8: 25,983,016	F303S	probably benign	Het
Rap1gap2	A	T	11: 74,441,785	S65T	probably damaging	Het
Sema3a	G	A	5: 13,473,406	C114Y	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Spry4	A	T	18: 38,589,975	V245E	probably damaging	Het
Srrt	T	C	5: 137,297,165	Y271C	probably damaging	Het
Tas2r136	A	G	6: 132,778,080	V28A	probably benign	Het
Tenm2	A	G	11: 36,069,503	V998A	probably benign	Het
Trim37	A	G	11: 87,137,603	E46G	probably damaging	Het
Ubiad1	A	G	4: 148,436,435	V244A	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
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
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
R8022:Oas3	UTSW	5	120756966	missense	possibly damaging	0.91
R8137:Oas3	UTSW	5	120777500	missense	probably benign	0.07
RF006:Oas3	UTSW	5	120774100	missense	probably damaging	1.00
X0024:Oas3	UTSW	5	120761728	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCGAAGCTGCATCTTCAGG -3'
(R):5'- CCATGTGTCAAGGGTGTTGC -3'

Sequencing Primer
(F):5'- AGCTGCATCTTCAGGAAGTC -3'
(R):5'- AAGGGTGTTGCCTAGCCAATC -3'

Posted On

2016-08-04