Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Oas1h'

456438

Institutional Source

Beutler Lab

Gene Symbol

Oas1h

Ensembl Gene

ENSMUSG00000001168

Gene Name

2'-5' oligoadenylate synthetase 1H

Synonyms

MMRRC Submission

044101-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120861421-120873506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120870977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 250 (V250A)

Ref Sequence

ENSEMBL: ENSMUSP00000072297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072476] [ENSMUST00000171820]

AlphaFold

Q8VI97

Predicted Effect

probably damaging
Transcript: ENSMUST00000072476
AA Change: V250A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072297
Gene: ENSMUSG00000001168
AA Change: V250A

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: ENSMUST00000171820

SMART Domains

Protein: ENSMUSP00000132033
Gene: ENSMUSG00000001168

Domain	Start	End	E-Value	Type
Pfam:NTP_transf_2	46	157	1.6e-7	PFAM
Pfam:OAS1_C	174	236	1e-22	PFAM

Meta Mutation Damage Score

0.5937

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 65,988,318	V150A	unknown	Het
Abraxas1	T	C	5: 100,817,958		probably null	Het
Actl7a	G	T	4: 56,743,827	R118L	probably damaging	Het
Atg2b	T	C	12: 105,639,359	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,706,293	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,712,279	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760	D347G	probably damaging	Het
Baz2b	C	T	2: 59,959,889	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,930,542	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,173,772	Q745*	probably null	Het
Cep97	G	A	16: 55,919,526	S185L	probably damaging	Het
Clec4d	A	G	6: 123,267,061	H43R	probably damaging	Het
Cntn3	T	A	6: 102,242,133	M509L	probably benign	Het
Cntrob	A	C	11: 69,309,375	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,507,277	N37I	possibly damaging	Het
Edc4	A	G	8: 105,890,587	T1029A	probably benign	Het
Fam160b2	A	T	14: 70,591,681	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,171,444		probably null	Het
Fzd6	T	A	15: 39,007,388	M1K	probably null	Het
Gle1	C	A	2: 29,940,281	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,565,962	V161A	probably damaging	Het
Hsf2	T	C	10: 57,504,723	S218P	probably benign	Het
Ipo7	T	A	7: 110,050,813	C736S	probably damaging	Het
Itpkb	G	T	1: 180,413,975	V737L	probably damaging	Het
Itpr1	T	C	6: 108,489,797		probably benign	Het
Kcnh8	G	T	17: 52,803,336	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,380,462		probably benign	Het
Kdm3a	C	A	6: 71,632,250		probably benign	Het
Kif5a	T	A	10: 127,230,578	M990L	probably benign	Het
Klf12	A	G	14: 100,022,688	S202P	probably damaging	Het
Krt81	T	G	15: 101,460,202	Q390P	probably damaging	Het
Lrig3	T	C	10: 126,008,478	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,258,248	V48D	probably damaging	Het
Mta1	C	T	12: 113,136,619	P688L	probably damaging	Het
Olfr618	G	T	7: 103,597,921	G202*	probably null	Het
Olfr95	A	T	17: 37,211,021	Y277*	probably null	Het
P2rx3	T	C	2: 85,000,727	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,345,286	I101T	possibly damaging	Het
Psme4	A	T	11: 30,841,589	N1148I	probably benign	Het
Rnf213	T	C	11: 119,421,369	L874P	probably damaging	Het
Sart3	T	C	5: 113,751,239	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,970,133		probably benign	Het
Slc9b1	C	T	3: 135,392,894		probably benign	Het
Stmn3	T	C	2: 181,308,780	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,394,106	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,148,785	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,223,981	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,215,123	P113L	probably damaging	Het
Unc5a	T	A	13: 54,999,690	C438S	possibly damaging	Het
Zan	C	A	5: 137,442,134	C1946F	unknown	Het

Other mutations in Oas1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01676:Oas1h	APN	5	120871834	missense	probably damaging	1.00
IGL01890:Oas1h	APN	5	120862789	splice site	probably null
IGL02745:Oas1h	APN	5	120861479	missense	probably benign	0.04
IGL02888:Oas1h	APN	5	120861547	missense	probably benign	0.34
IGL02970:Oas1h	APN	5	120861635	missense	possibly damaging	0.91
R0125:Oas1h	UTSW	5	120862563	nonsense	probably null
R1261:Oas1h	UTSW	5	120871867	missense	probably benign	0.01
R1506:Oas1h	UTSW	5	120871888	missense	possibly damaging	0.66
R1565:Oas1h	UTSW	5	120862600	missense	probably damaging	0.97
R1696:Oas1h	UTSW	5	120862822	critical splice donor site	probably null
R1750:Oas1h	UTSW	5	120871777	splice site	probably null
R3116:Oas1h	UTSW	5	120861616	nonsense	probably null
R4814:Oas1h	UTSW	5	120862665	missense	probably damaging	0.99
R4906:Oas1h	UTSW	5	120867109	nonsense	probably null
R4944:Oas1h	UTSW	5	120862783	missense	probably damaging	1.00
R4961:Oas1h	UTSW	5	120871096	missense	probably damaging	1.00
R5160:Oas1h	UTSW	5	120871082	missense	probably damaging	1.00
R5698:Oas1h	UTSW	5	120870982	missense	probably damaging	1.00
R6014:Oas1h	UTSW	5	120867166	missense	possibly damaging	0.68
R7062:Oas1h	UTSW	5	120861465	unclassified	probably benign
R7966:Oas1h	UTSW	5	120871899	missense	probably damaging	0.97
R7975:Oas1h	UTSW	5	120871827	missense	probably damaging	1.00
R8777:Oas1h	UTSW	5	120867044	missense	probably damaging	1.00
R8777-TAIL:Oas1h	UTSW	5	120867044	missense	probably damaging	1.00
R8951:Oas1h	UTSW	5	120862594	missense	probably damaging	1.00
R8987:Oas1h	UTSW	5	120867089	missense	probably damaging	1.00
R9748:Oas1h	UTSW	5	120867025	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTTGGCTATAGCAGAGGAGGG -3'
(R):5'- GTGGAGACAAGCTACCTGACTC -3'

Sequencing Primer
(F):5'- GACTGAGTCTAAATAACTGGCTGTG -3'
(R):5'- GGAGACAAGCTACCTGACTCTTTTG -3'

Posted On

2017-02-15