Mutagenetix > Incidental Mutations

Incidental Mutation 'R6066:Oas3'

484036

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

044230-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6066 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120753098-120777661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120772924 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 197 (K197R)

Ref Sequence

ENSEMBL: ENSMUSP00000035588 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044833
AA Change: K197R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035588
Gene: ENSMUSG00000032661
AA Change: K197R

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

noncoding transcript
Transcript: ENSMUST00000166703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201006

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgrb1	T	C	15: 74,540,459	F429S	probably damaging	Het
Ahi1	A	T	10: 20,959,926	M53L	possibly damaging	Het
Ahr	A	T	12: 35,504,921	F400I	probably damaging	Het
Ak7	G	T	12: 105,733,491	G223V	possibly damaging	Het
Alpk3	A	G	7: 81,076,950	I128V	possibly damaging	Het
Ampd3	A	T	7: 110,793,767	E247D	probably benign	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 65,032,084		probably null	Het
Arhgef10l	A	G	4: 140,577,080	F243L	probably damaging	Het
Cdh23	A	T	10: 60,433,758	V661E	probably damaging	Het
Cox8c	A	G	12: 102,900,275	T53A	probably benign	Het
Creld2	C	A	15: 88,823,766	T236K	possibly damaging	Het
Cul3	A	T	1: 80,283,759	C250S	probably benign	Het
Dhx37	A	C	5: 125,424,666	F510V	probably benign	Het
Fblim1	T	C	4: 141,577,909	D350G	probably damaging	Het
Lipm	A	G	19: 34,112,974	Y185C	probably damaging	Het
Mfsd4b4	A	G	10: 39,892,053	F348S	probably benign	Het
Misp	A	G	10: 79,826,312	R188G	possibly damaging	Het
Nbeal1	T	G	1: 60,248,405	I936S	probably benign	Het
Ngly1	G	A	14: 16,294,634	M521I	probably benign	Het
Nlrp9a	A	T	7: 26,558,085	Y376F	probably benign	Het
Pars2	T	C	4: 106,654,079	Y353H	probably damaging	Het
Pik3r1	T	C	13: 101,686,320	N625D	possibly damaging	Het
Pkhd1l1	T	A	15: 44,528,129	S1530R	probably damaging	Het
Rsph6a	C	T	7: 19,065,815	P457L	probably damaging	Het
Secisbp2	T	C	13: 51,677,222	S565P	probably benign	Het
Slc28a3	T	C	13: 58,578,487	M163V	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Svil	T	G	18: 5,106,724	V1855G	probably damaging	Het
Szt2	T	C	4: 118,371,974	T2890A	unknown	Het
Tatdn3	A	T	1: 191,046,268	V242E	probably benign	Het
Vmn1r22	T	G	6: 57,900,879	M38L	probably benign	Het
Vmn2r104	A	G	17: 20,038,311	F524L	possibly damaging	Het
Vmn2r94	A	G	17: 18,257,433	S239P	probably damaging	Het
Xpo7	T	C	14: 70,682,338	D679G	probably null	Het
Zbtb42	C	A	12: 112,679,607	T72K	probably damaging	Het
Zfp493	G	A	13: 67,786,950	A341T	possibly damaging	Het
Zfp811	A	G	17: 32,798,827	C80R	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
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
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
RF006:Oas3	UTSW	5	120774100	missense	probably damaging	1.00
X0024:Oas3	UTSW	5	120761728	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTCAGTGAGAAGTGACTCTTAAAGATG -3'
(R):5'- AGTTCAGTGTCCACGGTGTC -3'

Sequencing Primer
(F):5'- TGTAATCCACAGACTGGGAGACC -3'
(R):5'- AGTGTCCACGGTGTCCTCTG -3'

Posted On

2017-07-14