Mutagenetix > Incidental Mutation

Incidental Mutation 'R0378:Oas1f'

36460

Institutional Source

Beutler Lab

Gene Symbol

Oas1f

Ensembl Gene

ENSMUSG00000053765

Gene Name

2'-5' oligoadenylate synthetase 1F

Synonyms

MMRRC Submission

038584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0378 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120985432-120996049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120994489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 337 (C337G)

Ref Sequence

ENSEMBL: ENSMUSP00000056993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057814] [ENSMUST00000072476]

AlphaFold

Q14AZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000057814
AA Change: C337G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056993
Gene: ENSMUSG00000053765
AA Change: C337G

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	169	353	4.6e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072476

SMART Domains

Protein: ENSMUSP00000072297
Gene: ENSMUSG00000001168

Domain	Start	End	E-Value	Type
Pfam:NTP_transf_2	45	146	1.6e-9	PFAM
Pfam:OAS1_C	175	361	2.3e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175198

Meta Mutation Damage Score

0.9035

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,469,749 (GRCm39)	R651L	probably damaging	Het
Amd1	T	C	10: 40,165,380 (GRCm39)	D317G	possibly damaging	Het
Artn	A	G	4: 117,784,815 (GRCm39)		probably benign	Het
Bub1b	T	A	2: 118,471,604 (GRCm39)	V988E	probably benign	Het
Cyp2c65	G	T	19: 39,061,662 (GRCm39)	C216F	probably benign	Het
Cyp3a11	T	C	5: 145,805,417 (GRCm39)	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,923,652 (GRCm39)	K330N	probably damaging	Het
Duox2	C	A	2: 122,115,064 (GRCm39)	V1138L	probably benign	Het
Erc2	A	G	14: 27,733,651 (GRCm39)	D567G	probably damaging	Het
Eri2	A	G	7: 119,393,139 (GRCm39)		probably null	Het
Foxa3	A	G	7: 18,757,294 (GRCm39)	Y17H	probably damaging	Het
Fto	T	C	8: 92,200,940 (GRCm39)	S324P	probably damaging	Het
Get3	A	T	8: 85,751,893 (GRCm39)	M1K	probably null	Het
Gls2	T	G	10: 128,043,180 (GRCm39)	L457R	probably benign	Het
Gstcd	A	T	3: 132,692,169 (GRCm39)	L582H	probably damaging	Het
Gtf3c1	G	A	7: 125,246,786 (GRCm39)	R1508*	probably null	Het
Kif21a	T	C	15: 90,853,977 (GRCm39)		probably null	Het
Klra5	A	T	6: 129,883,577 (GRCm39)	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,290,404 (GRCm39)	D456G	probably damaging	Het
Mau2	A	G	8: 70,483,305 (GRCm39)	S186P	probably damaging	Het
Msr1	T	C	8: 40,042,423 (GRCm39)	D384G	possibly damaging	Het
Ncf4	T	C	15: 78,137,503 (GRCm39)	V93A	probably damaging	Het
Or10al3	A	G	17: 38,011,932 (GRCm39)	M124V	probably damaging	Het
Or5p58	A	T	7: 107,694,429 (GRCm39)	F116Y	probably benign	Het
Or6c33	T	A	10: 129,853,872 (GRCm39)	L214H	probably damaging	Het
Pwwp3a	C	A	10: 80,074,713 (GRCm39)		probably null	Het
Rasl10b	T	C	11: 83,309,519 (GRCm39)	S159P	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Smg8	C	A	11: 86,971,249 (GRCm39)	D841Y	probably damaging	Het
Sox7	T	C	14: 64,181,398 (GRCm39)	V65A	probably damaging	Het
Sp140	C	T	1: 85,547,772 (GRCm39)		probably benign	Het
Srsf10	A	G	4: 135,590,501 (GRCm39)	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcerg1l	A	G	7: 137,878,384 (GRCm39)	V326A	probably benign	Het
Tcl1b5	T	A	12: 105,145,326 (GRCm39)	W97R	probably damaging	Het
Tmem108	T	C	9: 103,376,856 (GRCm39)	R198G	possibly damaging	Het
Ube2ql1	T	A	13: 69,887,017 (GRCm39)	Q148L	possibly damaging	Het
Vmn1r5	A	T	6: 56,962,570 (GRCm39)	I82L	probably benign	Het
Wdr6	A	T	9: 108,453,063 (GRCm39)	S273R	probably damaging	Het
Ylpm1	C	T	12: 85,043,850 (GRCm39)		probably benign	Het
Zfp90	G	A	8: 107,152,138 (GRCm39)	R617Q	possibly damaging	Het

Other mutations in Oas1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02398:Oas1f	APN	5	120,989,568 (GRCm39)	missense	probably benign
R1414:Oas1f	UTSW	5	120,989,522 (GRCm39)	intron	probably benign
R1826:Oas1f	UTSW	5	120,993,652 (GRCm39)	missense	probably benign	0.33
R1848:Oas1f	UTSW	5	120,993,492 (GRCm39)	missense	probably damaging	1.00
R1895:Oas1f	UTSW	5	120,993,648 (GRCm39)	missense	probably benign	0.04
R1960:Oas1f	UTSW	5	120,994,502 (GRCm39)	missense	possibly damaging	0.54
R2193:Oas1f	UTSW	5	120,989,648 (GRCm39)	missense	probably damaging	1.00
R4622:Oas1f	UTSW	5	120,986,390 (GRCm39)	missense	probably damaging	0.98
R4758:Oas1f	UTSW	5	120,985,545 (GRCm39)	missense	probably damaging	1.00
R5882:Oas1f	UTSW	5	120,986,316 (GRCm39)	missense	probably damaging	0.99
R6515:Oas1f	UTSW	5	120,986,497 (GRCm39)	missense	probably damaging	1.00
R6944:Oas1f	UTSW	5	120,986,247 (GRCm39)	missense	probably benign	0.01
R7980:Oas1f	UTSW	5	120,989,538 (GRCm39)	missense	probably benign	0.16
R8048:Oas1f	UTSW	5	120,986,479 (GRCm39)	missense	possibly damaging	0.91
R8048:Oas1f	UTSW	5	120,985,602 (GRCm39)	missense	probably damaging	1.00
R8921:Oas1f	UTSW	5	120,989,556 (GRCm39)	missense	probably benign	0.20
R9376:Oas1f	UTSW	5	120,986,243 (GRCm39)	nonsense	probably null
R9453:Oas1f	UTSW	5	120,993,592 (GRCm39)	missense	probably damaging	0.99
R9777:Oas1f	UTSW	5	120,994,429 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAAAGGCTGTGAGGCACCAAAGACC -3'
(R):5'- CCTCCACAGGACTGTAGAGACCTTTAG -3'

Sequencing Primer
(F):5'- ccaacactcctcctctcac -3'
(R):5'- CTGTAGAGACCTTTAGAAAAAGACC -3'

Posted On

2013-05-09