Mutagenetix > Incidental Mutation

Incidental Mutation 'R8351:Oas1e'

660790

Institutional Source

Beutler Lab

Gene Symbol

Oas1e

Ensembl Gene

ENSMUSG00000066867

Gene Name

2'-5' oligoadenylate synthetase 1E

Synonyms

2'-5' oligoadenylate synthetase-like 7

MMRRC Submission

067804-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120924377-120933595 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 120925008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098348 (fasta)

Gene Model

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

AlphaFold

A0A0J9YV76

Predicted Effect

probably null
Transcript: ENSMUST00000100785

SMART Domains

Protein: ENSMUSP00000098348
Gene: ENSMUSG00000066867

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

Predicted Effect

probably null
Transcript: ENSMUST00000100785

SMART Domains

Protein: ENSMUSP00000098348
Gene: ENSMUSG00000066867

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

SMART Domains

Protein: ENSMUSP00000144529
Gene: ENSMUSG00000066867

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: 99.1%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agpat3	A	T	10: 78,110,086 (GRCm39)	Y288N	probably damaging	Het
Ano5	A	G	7: 51,203,626 (GRCm39)	K225E	probably benign	Het
Apob	A	G	12: 8,056,356 (GRCm39)	T1613A	probably benign	Het
Ascc3	A	G	10: 50,725,693 (GRCm39)	T2139A	probably benign	Het
Asnsd1	A	T	1: 53,386,172 (GRCm39)		probably null	Het
Atp23	C	T	10: 126,723,407 (GRCm39)	A232T	probably damaging	Het
Cd8b1	G	A	6: 71,306,777 (GRCm39)		probably null	Het
Cep295	G	A	9: 15,234,202 (GRCm39)	T2198I	probably damaging	Het
Col12a1	G	T	9: 79,588,694 (GRCm39)	N1140K	probably damaging	Het
Cyp2f2	A	G	7: 26,821,294 (GRCm39)	Y69C	probably damaging	Het
Ep400	C	T	5: 110,887,200 (GRCm39)	A628T	probably damaging	Het
Faxc	A	T	4: 21,932,046 (GRCm39)		probably null	Het
Fpr3	T	C	17: 18,191,436 (GRCm39)	S236P	probably benign	Het
Fsip2	T	C	2: 82,822,239 (GRCm39)	S5991P	possibly damaging	Het
Gm3099	A	T	14: 15,345,347 (GRCm39)	N58Y	probably damaging	Het
Gmps	T	C	3: 63,887,615 (GRCm39)	V29A	probably benign	Het
Gnptab	T	G	10: 88,250,348 (GRCm39)	D153E	probably benign	Het
Kcnh6	A	G	11: 105,911,062 (GRCm39)	H486R	probably damaging	Het
Lama3	T	C	18: 12,673,670 (GRCm39)	Y2571H	probably damaging	Het
Lama5	C	T	2: 179,837,401 (GRCm39)	V995M	probably damaging	Het
Lrrc43	A	G	5: 123,632,328 (GRCm39)	N157S	probably damaging	Het
Mbtps1	G	A	8: 120,272,923 (GRCm39)	S74L	probably benign	Het
Muc16	A	T	9: 18,571,181 (GRCm39)	V446D	unknown	Het
Ncapg2	T	C	12: 116,403,647 (GRCm39)	V853A	possibly damaging	Het
Nkx2-6	T	C	14: 69,409,476 (GRCm39)	S76P	probably benign	Het
Nuak1	T	C	10: 84,229,981 (GRCm39)	I131V	probably damaging	Het
Nup50l	A	C	6: 96,142,655 (GRCm39)	S130A	probably benign	Het
Or1n2	T	C	2: 36,797,149 (GRCm39)	F64L	probably benign	Het
Pde5a	T	C	3: 122,542,128 (GRCm39)		probably null	Het
Plin4	T	C	17: 56,413,861 (GRCm39)	T255A	probably benign	Het
Pygm	A	G	19: 6,438,117 (GRCm39)	T141A	possibly damaging	Het
Rps2	T	A	17: 24,939,334 (GRCm39)		probably benign	Het
Rptor	A	G	11: 119,783,465 (GRCm39)	D1153G	probably benign	Het
Ryr2	A	G	13: 11,814,718 (GRCm39)	F685L	probably damaging	Het
Slc22a17	A	G	14: 55,146,051 (GRCm39)	I356T	probably benign	Het
Slc29a4	T	G	5: 142,703,584 (GRCm39)	I286S	probably benign	Het
Swap70	T	C	7: 109,821,105 (GRCm39)	S30P	possibly damaging	Het
Tbc1d10c	A	G	19: 4,234,744 (GRCm39)	F439S	probably damaging	Het
Tbx3	T	A	5: 119,818,841 (GRCm39)	L472Q	probably damaging	Het
Tbxas1	A	G	6: 39,004,850 (GRCm39)	R366G	possibly damaging	Het
Ttll8	T	C	15: 88,798,638 (GRCm39)	D699G	probably benign	Het
Vmn1r128	A	T	7: 21,083,597 (GRCm39)	R100S	probably damaging	Het
Wdpcp	A	G	11: 21,698,931 (GRCm39)	D570G	probably damaging	Het
Znfx1	A	G	2: 166,897,575 (GRCm39)	S450P	probably damaging	Het

Other mutations in Oas1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Oas1e	APN	5	120,932,337 (GRCm39)	missense	probably damaging	1.00
IGL02072:Oas1e	APN	5	120,929,846 (GRCm39)	critical splice donor site	probably null
IGL02652:Oas1e	APN	5	120,933,470 (GRCm39)	missense	probably damaging	0.99
R0049:Oas1e	UTSW	5	120,933,395 (GRCm39)	missense	probably benign	0.01
R0242:Oas1e	UTSW	5	120,929,839 (GRCm39)	splice site	probably benign
R0325:Oas1e	UTSW	5	120,933,460 (GRCm39)	missense	probably damaging	1.00
R1528:Oas1e	UTSW	5	120,926,054 (GRCm39)	missense	probably damaging	1.00
R3438:Oas1e	UTSW	5	120,933,475 (GRCm39)	missense	probably damaging	1.00
R3790:Oas1e	UTSW	5	120,933,475 (GRCm39)	missense	probably damaging	1.00
R3963:Oas1e	UTSW	5	120,932,205 (GRCm39)	missense	probably damaging	1.00
R4811:Oas1e	UTSW	5	120,933,448 (GRCm39)	missense	probably damaging	0.98
R5095:Oas1e	UTSW	5	120,932,329 (GRCm39)	nonsense	probably null
R5327:Oas1e	UTSW	5	120,930,006 (GRCm39)	missense	probably damaging	1.00
R5860:Oas1e	UTSW	5	120,930,015 (GRCm39)	missense	probably benign	0.13
R5909:Oas1e	UTSW	5	120,926,972 (GRCm39)	missense	probably damaging	0.98
R6503:Oas1e	UTSW	5	120,926,042 (GRCm39)	missense	probably benign	0.39
R7167:Oas1e	UTSW	5	120,933,487 (GRCm39)	missense	probably benign	0.35
R7515:Oas1e	UTSW	5	120,929,951 (GRCm39)	missense	probably damaging	1.00
R7563:Oas1e	UTSW	5	120,927,021 (GRCm39)	missense	probably benign	0.00
R8114:Oas1e	UTSW	5	120,924,708 (GRCm39)	missense	unknown
R8133:Oas1e	UTSW	5	120,926,060 (GRCm39)	missense	probably benign	0.00
R8710:Oas1e	UTSW	5	120,930,027 (GRCm39)	nonsense	probably null
R9667:Oas1e	UTSW	5	120,932,347 (GRCm39)	missense	probably benign	0.28
RF020:Oas1e	UTSW	5	120,932,383 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- CAGATGAAGCAGCCTGTGAG -3'
(R):5'- GCTATATGGACCCTCAATGGC -3'

Sequencing Primer
(F):5'- CCTGTGAGGAAGGCTATCCATG -3'
(R):5'- ATGGCCATAGTCATACAGGTGTCC -3'

Posted On

2021-03-02