Mutagenetix > Incidental Mutations

Incidental Mutation 'R7563:Oas1e'

585250

Institutional Source

Beutler Lab

Gene Symbol

Oas1e

Ensembl Gene

ENSMUSG00000066867

Gene Name

2'-5' oligoadenylate synthetase 1E

Synonyms

2'-5' oligoadenylate synthetase-like 7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120786226-120795530 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120788956 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 229 (R229G)

Ref Sequence

ENSEMBL: ENSMUSP00000144529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100785] [ENSMUST00000200786] [ENSMUST00000201172]

Predicted Effect

probably benign
Transcript: ENSMUST00000100785
AA Change: R229G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098348
Gene: ENSMUSG00000066867
AA Change: R229G

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	168	353	4.3e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200786

SMART Domains

Protein: ENSMUSP00000144442
Gene: ENSMUSG00000066867

Domain	Start	End	E-Value	Type
PDB:1PX5\|B	4	60	4e-14	PDB
low complexity region	82	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201172
AA Change: R229G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144529
Gene: ENSMUSG00000066867
AA Change: R229G

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	168	353	2.7e-71	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	T	17: 23,717,328	F8L	probably benign	Het
Aadacl3	A	G	4: 144,457,894	I98T	probably damaging	Het
Ahnak	T	C	19: 9,011,165	I3271T	probably damaging	Het
Aox1	G	A	1: 58,047,145	V70I	probably benign	Het
Ap1g2	A	G	14: 55,099,749	S710P	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
Cacna1e	T	C	1: 154,471,416	K1064E	probably benign	Het
Capn11	T	A	17: 45,633,965	I459F	probably damaging	Het
Ccnc	A	G	4: 21,732,220	I48V	probably damaging	Het
Ces1d	T	A	8: 93,178,039	I358F	probably benign	Het
Clgn	A	T	8: 83,420,556	N379I	probably damaging	Het
Cym	T	C	3: 107,214,232	Y248C	probably damaging	Het
Epha8	T	C	4: 136,938,789	D352G	possibly damaging	Het
Eya2	T	C	2: 165,716,130		probably null	Het
Fbxl5	C	T	5: 43,821,549	V20I	probably benign	Het
Fscb	T	C	12: 64,473,285	E469G	possibly damaging	Het
Glt8d2	A	T	10: 82,660,825		probably null	Het
Gm13088	A	T	4: 143,654,105	Y449*	probably null	Het
Helt	T	C	8: 46,293,593		probably benign	Het
Igkv8-27	G	T	6: 70,171,903	T89K	probably benign	Het
Ipo5	T	A	14: 120,946,155	H1048Q	probably benign	Het
Kalrn	T	C	16: 34,392,094	D28G	probably damaging	Het
Kcnh4	G	A	11: 100,741,854	P936S	probably benign	Het
Klrd1	A	G	6: 129,593,738	I37M	possibly damaging	Het
Kmt2e	T	C	5: 23,500,273	V1267A	probably damaging	Het
Lrrc29	A	G	8: 105,315,756	C147R	probably benign	Het
March1	A	T	8: 66,468,313	Q214L	probably damaging	Het
Mlip	G	T	9: 77,112,997	H52N	probably damaging	Het
Ogfr	T	A	2: 180,592,507		probably null	Het
Olfr1023	T	A	2: 85,887,138	Y113N	probably damaging	Het
Olfr1279	T	C	2: 111,306,789	F195L	probably benign	Het
Pde4d	T	C	13: 109,951,007	I636T	probably benign	Het
Pex5l	C	T	3: 32,954,476	V426I	probably damaging	Het
Pmfbp1	A	G	8: 109,525,374	K384E	possibly damaging	Het
Prl6a1	T	G	13: 27,314,238		probably null	Het
Prss23	A	T	7: 89,509,830	W344R	probably damaging	Het
Ptar1	T	A	19: 23,720,316	D397E	probably benign	Het
Qrsl1	G	A	10: 43,876,517	R437C	probably damaging	Het
Rab6a	G	T	7: 100,608,197		probably benign	Het
Samd14	C	A	11: 95,021,413	S205R	probably benign	Het
Sel1l3	T	C	5: 53,185,984	Y322C	probably damaging	Het
Slc30a5	A	T	13: 100,803,972	L669I	probably benign	Het
Ssc4d	A	G	5: 135,963,033	L419P	probably damaging	Het
Tbc1d2b	A	T	9: 90,219,010	Y642*	probably null	Het
Tbc1d2b	A	C	9: 90,226,248	F417V	probably benign	Het
Top2a	T	C	11: 99,016,179	D212G	probably damaging	Het
Trim39	A	T	17: 36,260,915	V317E	probably damaging	Het
Uncx	G	A	5: 139,544,506	R113H	probably damaging	Het
Usp4	A	G	9: 108,379,344	S655G	probably benign	Het
Vmn2r114	C	T	17: 23,291,026	V827I	probably benign	Het
Vmn2r28	T	A	7: 5,488,201	N349I	probably benign	Het
Vmn2r3	A	G	3: 64,275,349	W310R	possibly damaging	Het
Xirp2	T	C	2: 67,509,901	W829R	probably damaging	Het
Zfp574	C	A	7: 25,081,352	H600N	possibly damaging	Het

Other mutations in Oas1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Oas1e	APN	5	120794272	missense	probably damaging	1.00
IGL02072:Oas1e	APN	5	120791781	critical splice donor site	probably null
IGL02652:Oas1e	APN	5	120795405	missense	probably damaging	0.99
R0049:Oas1e	UTSW	5	120795330	missense	probably benign	0.01
R0242:Oas1e	UTSW	5	120791774	splice site	probably benign
R0325:Oas1e	UTSW	5	120795395	missense	probably damaging	1.00
R1528:Oas1e	UTSW	5	120787989	missense	probably damaging	1.00
R3438:Oas1e	UTSW	5	120795410	missense	probably damaging	1.00
R3790:Oas1e	UTSW	5	120795410	missense	probably damaging	1.00
R3963:Oas1e	UTSW	5	120794140	missense	probably damaging	1.00
R4811:Oas1e	UTSW	5	120795383	missense	probably damaging	0.98
R5095:Oas1e	UTSW	5	120794264	nonsense	probably null
R5327:Oas1e	UTSW	5	120791941	missense	probably damaging	1.00
R5860:Oas1e	UTSW	5	120791950	missense	probably benign	0.13
R5909:Oas1e	UTSW	5	120788907	missense	probably damaging	0.98
R6503:Oas1e	UTSW	5	120787977	missense	probably benign	0.39
R7167:Oas1e	UTSW	5	120795422	missense	probably benign	0.35
R7515:Oas1e	UTSW	5	120791886	missense	probably damaging	1.00
RF020:Oas1e	UTSW	5	120794318	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- CAGGTAGTCAGAGATCTCAGGTC -3'
(R):5'- GCTGTCTTTGAAGCACACAGG -3'

Sequencing Primer
(F):5'- TCAGAGATCTCAGGTCGAAAGTC -3'
(R):5'- CTTTGAAGCACACAGGGTCAGTC -3'

Posted On

2019-10-17