Mutagenetix > Incidental Mutations

Incidental Mutation 'R6255:Oas3'

506050

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

044372-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6255 (G1)

Quality Score

154.008

Status

Validated

Chromosome

Chromosomal Location

120753098-120777661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120771230 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 217 (V217A)

Ref Sequence

ENSEMBL: ENSMUSP00000035588 (fasta)

Gene Model

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

AlphaFold

Q8VI93

Predicted Effect

probably benign
Transcript: ENSMUST00000044833
AA Change: V217A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000035588
Gene: ENSMUSG00000032661
AA Change: V217A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	probably benign	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
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
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
RF006:Oas3	UTSW	5	120774100	missense	probably damaging	1.00
X0024:Oas3	UTSW	5	120761728	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCCTCGAAGCCATAGTTTTCC -3'
(R):5'- TGGGGCTCGACTTTCATTCC -3'

Sequencing Primer
(F):5'- GTTTTCCGTCCAGAAAATGCAGAG -3'
(R):5'- AGTTCCCTCATGCCAGTCTGAAAC -3'

Posted On

2018-02-28