Mutagenetix > Incidental Mutation

Incidental Mutation 'R5487:Oas1a'

430403

Institutional Source

Beutler Lab

Gene Symbol

Oas1a

Ensembl Gene

ENSMUSG00000052776

Gene Name

2'-5' oligoadenylate synthetase 1A

Synonyms

MMRRC Submission

043048-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121034319-121045584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121045490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 17 (I17T)

Ref Sequence

ENSEMBL: ENSMUSP00000079198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080322]

AlphaFold

P11928

Predicted Effect

probably damaging
Transcript: ENSMUST00000080322
AA Change: I17T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079198
Gene: ENSMUSG00000052776
AA Change: I17T

Domain	Start	End	E-Value	Type
Pfam:NTP_transf_2	38	139	9.8e-14	PFAM
Pfam:OAS1_C	164	349	1.9e-87	PFAM

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,844,340 (GRCm39)	V959A	probably damaging	Het
Alg3	A	T	16: 20,426,530 (GRCm39)	I115N	probably damaging	Het
Ash1l	A	G	3: 88,888,733 (GRCm39)	D204G	probably benign	Het
Camta1	C	A	4: 151,229,211 (GRCm39)	E540D	possibly damaging	Het
Cblc	T	C	7: 19,518,733 (GRCm39)	T413A	probably benign	Het
Ccdc122	T	A	14: 77,329,119 (GRCm39)	H57Q	probably benign	Het
Ccdc85a	A	T	11: 28,526,768 (GRCm39)	L280*	probably null	Het
Cd46	T	G	1: 194,750,478 (GRCm39)		probably null	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,864 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Ecpas	T	C	4: 58,809,421 (GRCm39)	D1651G	probably benign	Het
Eif2ak1	A	G	5: 143,833,981 (GRCm39)		probably null	Het
Erich4	A	G	7: 25,314,664 (GRCm39)	M83T	probably benign	Het
Fbxo24	C	T	5: 137,617,094 (GRCm39)	G331E	possibly damaging	Het
Fzd4	A	G	7: 89,056,615 (GRCm39)	I221V	probably benign	Het
G6pc2	T	C	2: 69,056,921 (GRCm39)	V189A	probably damaging	Het
Gm10663	A	C	8: 65,527,686 (GRCm39)	E1A	probably null	Het
Gm4871	C	A	5: 144,967,199 (GRCm39)	E178D	probably damaging	Het
Igdcc3	A	G	9: 65,088,866 (GRCm39)	E415G	probably damaging	Het
Kmt2a	A	T	9: 44,733,272 (GRCm39)		probably benign	Het
Krba1	T	C	6: 48,380,973 (GRCm39)	V103A	probably damaging	Het
Lcat	T	C	8: 106,666,296 (GRCm39)	K409E	probably benign	Het
Lrriq4	C	A	3: 30,714,144 (GRCm39)	N497K	probably benign	Het
Mical2	A	G	7: 111,919,842 (GRCm39)	T451A	probably damaging	Het
Noxo1	C	T	17: 24,917,291 (GRCm39)		probably benign	Het
Otog	A	T	7: 45,938,192 (GRCm39)	Y1967F	probably benign	Het
Pcdha9	A	T	18: 37,132,703 (GRCm39)	N591Y	probably damaging	Het
Plxna4	A	G	6: 32,494,218 (GRCm39)	Y133H	probably damaging	Het
Pou5f2	T	C	13: 78,173,118 (GRCm39)	L20P	probably benign	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Sema3b	A	T	9: 107,478,161 (GRCm39)	M408K	probably damaging	Het
Serpinf2	G	A	11: 75,324,031 (GRCm39)	T332I	probably damaging	Het
Tmbim1	A	G	1: 74,332,164 (GRCm39)	V121A	probably benign	Het
Tph2	C	T	10: 114,955,779 (GRCm39)	G338D	probably damaging	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,642,896 (GRCm39)	V13247M	probably damaging	Het
Uty	C	T	Y: 1,174,825 (GRCm39)	G192R	probably damaging	Het
Vmn2r65	G	T	7: 84,595,529 (GRCm39)	P385Q	possibly damaging	Het
Wdfy3	G	A	5: 101,984,140 (GRCm39)	R3489W	probably damaging	Het
Zfp750	A	G	11: 121,404,558 (GRCm39)	S106P	probably benign	Het

Other mutations in Oas1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01822:Oas1a	APN	5	121,037,277 (GRCm39)	missense	probably benign	0.01
IGL02299:Oas1a	APN	5	121,043,755 (GRCm39)	missense	probably benign
IGL02951:Oas1a	APN	5	121,043,727 (GRCm39)	missense	probably damaging	1.00
IGL03112:Oas1a	APN	5	121,036,412 (GRCm39)	missense	possibly damaging	0.95
IGL03230:Oas1a	APN	5	121,036,419 (GRCm39)	missense	probably benign	0.23
IGL03356:Oas1a	APN	5	121,043,908 (GRCm39)	missense	probably damaging	0.99
IGL03379:Oas1a	APN	5	121,035,062 (GRCm39)	missense	possibly damaging	0.70
R0625:Oas1a	UTSW	5	121,037,322 (GRCm39)	missense	probably damaging	1.00
R1279:Oas1a	UTSW	5	121,035,241 (GRCm39)	critical splice donor site	probably null
R1914:Oas1a	UTSW	5	121,043,876 (GRCm39)	missense	possibly damaging	0.48
R1915:Oas1a	UTSW	5	121,043,876 (GRCm39)	missense	possibly damaging	0.48
R4758:Oas1a	UTSW	5	121,045,401 (GRCm39)	missense	probably damaging	1.00
R4928:Oas1a	UTSW	5	121,043,787 (GRCm39)	missense	probably benign
R5267:Oas1a	UTSW	5	121,037,284 (GRCm39)	missense	probably benign	0.00
R5442:Oas1a	UTSW	5	121,035,269 (GRCm39)	missense	probably benign	0.00
R6853:Oas1a	UTSW	5	121,045,491 (GRCm39)	missense	possibly damaging	0.95
R6880:Oas1a	UTSW	5	121,040,003 (GRCm39)	missense	probably damaging	0.97
R7953:Oas1a	UTSW	5	121,035,080 (GRCm39)	missense	probably benign	0.32
R8043:Oas1a	UTSW	5	121,035,080 (GRCm39)	missense	probably benign	0.32
R8363:Oas1a	UTSW	5	121,043,902 (GRCm39)	missense	probably damaging	1.00
R8738:Oas1a	UTSW	5	121,040,019 (GRCm39)	missense	probably damaging	1.00
R8863:Oas1a	UTSW	5	121,043,943 (GRCm39)	missense	probably damaging	1.00
R9474:Oas1a	UTSW	5	121,037,317 (GRCm39)	missense	probably damaging	1.00
R9475:Oas1a	UTSW	5	121,037,317 (GRCm39)	missense	probably damaging	1.00
R9612:Oas1a	UTSW	5	121,040,028 (GRCm39)	missense	possibly damaging	0.70
Z1177:Oas1a	UTSW	5	121,039,958 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TGTCTGGCTTCTGAGAGTCC -3'
(R):5'- AGCTCAGACTTCAAAGAACCTG -3'

Sequencing Primer
(F):5'- GGCTTCTGAGAGTCCCCTCC -3'
(R):5'- TCAGACTTCAAAGAACCTGGTCAG -3'

Posted On

2016-10-05