Mutagenetix > Incidental Mutation

Incidental Mutation 'R7314:Oas1g'

567820

Institutional Source

Beutler Lab

Gene Symbol

Oas1g

Ensembl Gene

ENSMUSG00000066861

Gene Name

2'-5' oligoadenylate synthetase 1G

Synonyms

Oias-1, L2, Mmu-L2, Oias1, Oas1a, Mmu-L

MMRRC Submission

045412-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121014205-121025676 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121016526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 301 (L301Q)

Ref Sequence

ENSEMBL: ENSMUSP00000083555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072476] [ENSMUST00000086368] [ENSMUST00000162096]

AlphaFold

Q8K469

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 damaging
Transcript: ENSMUST00000086368
AA Change: L301Q

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

SMART Domains

Protein: ENSMUSP00000083555
Gene: ENSMUSG00000066861
AA Change: L301Q

Domain	Start	End	E-Value	Type
Pfam:NTP_transf_2	38	139	1.6e-13	PFAM
Pfam:OAS1_C	164	349	6.9e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162096

SMART Domains

Protein: ENSMUSP00000124597
Gene: ENSMUSG00000066861

Domain	Start	End	E-Value	Type
Pfam:NTP_transf_2	42	138	1.1e-9	PFAM
Pfam:OAS1_C	163	231	1.4e-24	PFAM

Meta Mutation Damage Score

0.8899

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: This gene encodes a member of the oligoadenylate synthetase family of proteins. This gene and several other family members are present in a gene cluster on chromosome 5. These proteins are believed to function in antiviral immunity through binding to viral dsRNA and subsequent synthesis of 2'-5'-oligoadenylates. The expression of this gene has been shown to be induced by interferon. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	G	A	7: 29,989,320 (GRCm39)	V177I	unknown	Het
4930596D02Rik	A	G	14: 35,533,606 (GRCm39)	V54A	probably benign	Het
Abcc10	C	A	17: 46,626,330 (GRCm39)	A704S	probably damaging	Het
Adss2	A	G	1: 177,595,317 (GRCm39)	W408R	probably damaging	Het
Aplp1	T	C	7: 30,135,414 (GRCm39)	E548G	probably damaging	Het
C4b	C	T	17: 34,959,330 (GRCm39)	V415I	probably benign	Het
Celsr3	T	C	9: 108,706,343 (GRCm39)	V942A	probably damaging	Het
Cstf1	A	G	2: 172,214,954 (GRCm39)	D25G	probably damaging	Het
Dnah14	A	T	1: 181,612,819 (GRCm39)		probably null	Het
Dnah9	G	A	11: 65,880,677 (GRCm39)	T2640I	probably benign	Het
Dnase2b	T	C	3: 146,288,151 (GRCm39)	I315V	probably damaging	Het
Endod1	T	C	9: 14,268,295 (GRCm39)	S397G	probably benign	Het
Eps8	A	G	6: 137,504,090 (GRCm39)	V171A	possibly damaging	Het
Ghdc	T	C	11: 100,659,928 (GRCm39)	E273G	probably damaging	Het
Hmgn2-ps	C	T	8: 73,058,839 (GRCm39)	G63R	probably damaging	Het
Hspbap1	T	A	16: 35,645,541 (GRCm39)	S409T	probably benign	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Jph4	TCCATTCTCGTATACCCCA	TCCA	14: 55,347,196 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,775,755 (GRCm39)	Y268H	probably damaging	Het
Krt16	T	C	11: 100,138,695 (GRCm39)	D197G	probably damaging	Het
Lca5	T	C	9: 83,277,563 (GRCm39)	K594E	possibly damaging	Het
Lgi3	T	C	14: 70,769,552 (GRCm39)	F84S	probably damaging	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Map3k7	G	T	4: 31,985,769 (GRCm39)	E231*	probably null	Het
Nrip1	A	G	16: 76,088,078 (GRCm39)	S1160P	probably benign	Het
Obox3	T	A	7: 15,361,079 (GRCm39)	Q62L	possibly damaging	Het
Or5d37	A	G	2: 87,923,458 (GRCm39)	L274P	probably benign	Het
Or6b13	A	T	7: 139,782,326 (GRCm39)	V119D	probably damaging	Het
Parp8	G	T	13: 117,004,996 (GRCm39)	F727L	probably benign	Het
Pcdha1	T	C	18: 37,064,553 (GRCm39)	Y406H	probably damaging	Het
Pcdhgb8	A	G	18: 37,896,052 (GRCm39)	D374G	probably damaging	Het
Pdzd8	A	T	19: 59,289,783 (GRCm39)	L539*	probably null	Het
Phkb	A	G	8: 86,669,021 (GRCm39)		probably null	Het
Ppp1r13b	T	C	12: 111,812,790 (GRCm39)	E143G	probably damaging	Het
Rpap2	T	C	5: 107,768,245 (GRCm39)	V361A	probably damaging	Het
Setd4	T	C	16: 93,384,711 (GRCm39)	T326A	probably benign	Het
Smad9	A	G	3: 54,696,744 (GRCm39)	N270D	probably benign	Het
Sntg2	A	G	12: 30,317,107 (GRCm39)	S172P	probably benign	Het
Tecpr1	A	G	5: 144,154,150 (GRCm39)	L101P	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,671,912 (GRCm39)	T427A	possibly damaging	Het
Trhr2	A	G	8: 123,085,489 (GRCm39)	V165A	possibly damaging	Het
Ubr3	T	A	2: 69,821,944 (GRCm39)	L1402Q	probably damaging	Het
Vps13c	T	A	9: 67,850,622 (GRCm39)		probably null	Het
Zfp369	T	C	13: 65,439,918 (GRCm39)	S201P	probably damaging	Het

Other mutations in Oas1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Oas1g	APN	5	121,024,109 (GRCm39)	nonsense	probably null
R0389:Oas1g	UTSW	5	121,025,592 (GRCm39)	missense	probably benign	0.01
R1433:Oas1g	UTSW	5	121,020,012 (GRCm39)	missense	probably damaging	1.00
R1468:Oas1g	UTSW	5	121,020,069 (GRCm39)	missense	probably benign	0.02
R1468:Oas1g	UTSW	5	121,020,069 (GRCm39)	missense	probably benign	0.02
R1926:Oas1g	UTSW	5	121,017,205 (GRCm39)	missense	probably benign	0.00
R2062:Oas1g	UTSW	5	121,023,946 (GRCm39)	missense	probably damaging	1.00
R2063:Oas1g	UTSW	5	121,023,946 (GRCm39)	missense	probably damaging	1.00
R2064:Oas1g	UTSW	5	121,023,946 (GRCm39)	missense	probably damaging	1.00
R2067:Oas1g	UTSW	5	121,023,946 (GRCm39)	missense	probably damaging	1.00
R2932:Oas1g	UTSW	5	121,017,206 (GRCm39)	missense	probably benign	0.00
R4296:Oas1g	UTSW	5	121,017,230 (GRCm39)	missense	probably damaging	1.00
R4808:Oas1g	UTSW	5	121,017,385 (GRCm39)	missense	possibly damaging	0.45
R5874:Oas1g	UTSW	5	121,015,081 (GRCm39)	missense	probably benign
R6842:Oas1g	UTSW	5	121,025,621 (GRCm39)	missense	probably benign	0.01
R7729:Oas1g	UTSW	5	121,024,063 (GRCm39)	missense	probably damaging	1.00
R9353:Oas1g	UTSW	5	121,023,986 (GRCm39)	missense	possibly damaging	0.78
Z1177:Oas1g	UTSW	5	121,016,393 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAAGCTGTGTACATGGTGAC -3'
(R):5'- AGGGAGTAACATGTCCTGATCC -3'

Sequencing Primer
(F):5'- CAGGATGATGATGGGGTCTCACC -3'
(R):5'- GAGGATTTGAACCTAGGCCTTCTAC -3'

Posted On

2019-06-26