Mutagenetix > Incidental Mutations

Incidental Mutation 'R1642:Oas3'

173596

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

039678-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1642 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

120753098-120777661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120777574 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 17 (H17Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035588 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044833
AA Change: H17Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035588
Gene: ENSMUSG00000032661
AA Change: H17Q

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: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,986,237	V19A	probably benign	Het
3632451O06Rik	T	C	14: 49,768,410		probably null	Het
4931409K22Rik	C	A	5: 24,552,688	R177L	probably damaging	Het
6820408C15Rik	T	C	2: 152,440,854	Y210H	probably damaging	Het
Aars	T	A	8: 111,043,250	I327N	possibly damaging	Het
Abca6	T	A	11: 110,218,281	N688Y	possibly damaging	Het
Ablim3	T	C	18: 61,814,311	K457R	probably benign	Het
Acsm2	A	T	7: 119,563,637	N45Y	probably damaging	Het
Agxt2	T	C	15: 10,373,831	S108P	probably damaging	Het
Akr1cl	A	T	1: 65,021,429	M174K	probably benign	Het
Bfsp1	G	A	2: 143,841,763	R214W	probably damaging	Het
Cby3	A	G	11: 50,359,516	D183G	probably damaging	Het
Clip2	T	C	5: 134,503,253	D566G	possibly damaging	Het
Colgalt1	A	G	8: 71,620,757	I341V	probably benign	Het
Cyp2c38	T	A	19: 39,401,709	D349V	probably damaging	Het
Cyp3a16	T	A	5: 145,469,589	I18F	unknown	Het
Degs2	C	T	12: 108,692,192	C176Y	probably benign	Het
Dhx16	A	T	17: 35,891,065	T995S	probably damaging	Het
Dicer1	A	T	12: 104,713,156	C521S	probably damaging	Het
Dopey2	T	C	16: 93,762,315	S532P	probably benign	Het
Dpysl4	T	G	7: 139,090,338	M124R	probably damaging	Het
Eml6	A	G	11: 29,777,001		probably null	Het
Erbb4	A	T	1: 68,331,234	V395D	probably damaging	Het
Esf1	T	C	2: 140,158,486	D460G	possibly damaging	Het
F830045P16Rik	G	A	2: 129,463,714	H247Y	probably benign	Het
Fsbp	T	A	4: 11,583,965	S221R	probably benign	Het
Fstl5	T	A	3: 76,410,622	N198K	possibly damaging	Het
Gemin5	G	T	11: 58,139,080	H855Q	probably damaging	Het
Gjd3	T	C	11: 98,982,709	E103G	probably benign	Het
I0C0044D17Rik	A	G	4: 98,820,234		probably benign	Het
Itgb4	A	T	11: 116,007,357	R1646W	probably damaging	Het
Klri2	A	T	6: 129,738,874	C121S	probably benign	Het
Lamc3	A	G	2: 31,915,996	Y703C	probably damaging	Het
Lrrc10	A	G	10: 117,045,883	N154S	probably damaging	Het
Lrriq1	A	G	10: 103,214,456	F812L	probably benign	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Nav1	T	C	1: 135,452,272	Y1564C	probably damaging	Het
Ndufc1	T	C	3: 51,408,243	T25A	probably benign	Het
Neurl4	A	G	11: 69,903,659	M23V	probably benign	Het
Nnt	A	G	13: 119,404,550		probably null	Het
Nolc1	G	C	19: 46,079,022		probably null	Het
Nrg1	A	T	8: 31,824,508	M289K	probably benign	Het
Olfr1030	A	G	2: 85,983,857	K6E	probably benign	Het
Olfr239	A	G	17: 33,199,456	Y132C	probably damaging	Het
Olfr30	A	G	11: 58,455,838	I37T	probably benign	Het
Olfr957	C	T	9: 39,511,354	R122H	possibly damaging	Het
Parp9	T	C	16: 35,967,697	Y612H	probably benign	Het
Pcdh1	A	T	18: 38,199,230	M240K	possibly damaging	Het
Pcdhb9	A	G	18: 37,400,934		probably benign	Het
Plpp2	A	G	10: 79,530,684	V42A	probably damaging	Het
Ppic	C	T	18: 53,407,062	V172M	probably damaging	Het
Ppp1r9b	A	G	11: 95,001,324		silent	Het
Prop1	A	G	11: 50,953,325	V27A	possibly damaging	Het
Psmc5	A	G	11: 106,262,416	T295A	probably benign	Het
Rpa1	A	G	11: 75,312,691		probably null	Het
Rrp12	A	G	19: 41,871,737	F1016L	probably damaging	Het
Scn2a	A	T	2: 65,683,697	I242F	probably damaging	Het
Slco1a6	T	A	6: 142,086,434	H655L	probably benign	Het
Sp140	G	A	1: 85,610,824		probably null	Het
Syne1	A	G	10: 5,348,694	I1071T	possibly damaging	Het
Tbc1d9b	A	G	11: 50,149,832	D392G	probably damaging	Het
Tcaim	G	A	9: 122,818,773		probably null	Het
Tgm3	T	A	2: 130,047,782	V632E	probably damaging	Het
Triobp	C	A	15: 79,002,148	R1830S	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vps8	A	G	16: 21,581,579	T1266A	probably benign	Het
Znfx1	T	C	2: 167,039,010	I285V	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
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
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'- TCCCTCAAGAAGACCCTGAAGGTG -3'
(R):5'- TCCCCAAATAGGAGGTCAGGAAGC -3'

Sequencing Primer
(F):5'- AAGACCCTGAAGGTGTTTGCC -3'
(R):5'- CCCAGAGGGTCAGAAGTCAC -3'

Posted On

2014-04-24