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: 0.055) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120999485-121011569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121009040 bp (GRCm39)

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: 66,145,661 (GRCm39)	V150A	unknown	Het
Abraxas1	T	C	5: 100,965,824 (GRCm39)		probably null	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atg2b	T	C	12: 105,605,618 (GRCm39)	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,683,254 (GRCm39)	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,789,343 (GRCm39)	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760 (GRCm39)	D347G	probably damaging	Het
Baz2b	C	T	2: 59,790,233 (GRCm39)	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,896,801 (GRCm39)	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,002,837 (GRCm39)	Q745*	probably null	Het
Cep97	G	A	16: 55,739,889 (GRCm39)	S185L	probably damaging	Het
Clec4d	A	G	6: 123,244,020 (GRCm39)	H43R	probably damaging	Het
Cntn3	T	A	6: 102,219,094 (GRCm39)	M509L	probably benign	Het
Cntrob	A	C	11: 69,200,201 (GRCm39)	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,395,514 (GRCm39)	N37I	possibly damaging	Het
Edc4	A	G	8: 106,617,219 (GRCm39)	T1029A	probably benign	Het
Fhip2b	A	T	14: 70,829,121 (GRCm39)	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,062,270 (GRCm39)		probably null	Het
Fzd6	T	A	15: 38,870,783 (GRCm39)	M1K	probably null	Het
Gle1	C	A	2: 29,830,293 (GRCm39)	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,215,386 (GRCm39)	V161A	probably damaging	Het
Hsf2	T	C	10: 57,380,819 (GRCm39)	S218P	probably benign	Het
Ipo7	T	A	7: 109,650,020 (GRCm39)	C736S	probably damaging	Het
Itpkb	G	T	1: 180,241,540 (GRCm39)	V737L	probably damaging	Het
Itpr1	T	C	6: 108,466,758 (GRCm39)		probably benign	Het
Kcnh8	G	T	17: 53,110,364 (GRCm39)	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,518,523 (GRCm39)		probably benign	Het
Kdm3a	C	A	6: 71,609,234 (GRCm39)		probably benign	Het
Kif5a	T	A	10: 127,066,447 (GRCm39)	M990L	probably benign	Het
Klf12	A	G	14: 100,260,124 (GRCm39)	S202P	probably damaging	Het
Krt81	T	G	15: 101,358,083 (GRCm39)	Q390P	probably damaging	Het
Lrig3	T	C	10: 125,844,347 (GRCm39)	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,235,612 (GRCm39)	V48D	probably damaging	Het
Mta1	C	T	12: 113,100,239 (GRCm39)	P688L	probably damaging	Het
Or10c1	A	T	17: 37,521,912 (GRCm39)	Y277*	probably null	Het
Or52z13	G	T	7: 103,247,128 (GRCm39)	G202*	probably null	Het
P2rx3	T	C	2: 84,831,071 (GRCm39)	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,333,718 (GRCm39)	I101T	possibly damaging	Het
Psme4	A	T	11: 30,791,589 (GRCm39)	N1148I	probably benign	Het
Rnf213	T	C	11: 119,312,195 (GRCm39)	L874P	probably damaging	Het
Sart3	T	C	5: 113,889,300 (GRCm39)	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,569,305 (GRCm39)		probably benign	Het
Slc9b1	C	T	3: 135,098,655 (GRCm39)		probably benign	Het
Stmn3	T	C	2: 180,950,573 (GRCm39)	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,301,389 (GRCm39)	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,386,242 (GRCm39)	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,113,993 (GRCm39)	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Unc5a	T	A	13: 55,147,503 (GRCm39)	C438S	possibly damaging	Het
Zan	C	A	5: 137,440,396 (GRCm39)	C1946F	unknown	Het

Other mutations in Oas1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01676:Oas1h	APN	5	121,009,897 (GRCm39)	missense	probably damaging	1.00
IGL01890:Oas1h	APN	5	121,000,852 (GRCm39)	splice site	probably null
IGL02745:Oas1h	APN	5	120,999,542 (GRCm39)	missense	probably benign	0.04
IGL02888:Oas1h	APN	5	120,999,610 (GRCm39)	missense	probably benign	0.34
IGL02970:Oas1h	APN	5	120,999,698 (GRCm39)	missense	possibly damaging	0.91
R0125:Oas1h	UTSW	5	121,000,626 (GRCm39)	nonsense	probably null
R1261:Oas1h	UTSW	5	121,009,930 (GRCm39)	missense	probably benign	0.01
R1506:Oas1h	UTSW	5	121,009,951 (GRCm39)	missense	possibly damaging	0.66
R1565:Oas1h	UTSW	5	121,000,663 (GRCm39)	missense	probably damaging	0.97
R1696:Oas1h	UTSW	5	121,000,885 (GRCm39)	critical splice donor site	probably null
R1750:Oas1h	UTSW	5	121,009,840 (GRCm39)	splice site	probably null
R3116:Oas1h	UTSW	5	120,999,679 (GRCm39)	nonsense	probably null
R4814:Oas1h	UTSW	5	121,000,728 (GRCm39)	missense	probably damaging	0.99
R4906:Oas1h	UTSW	5	121,005,172 (GRCm39)	nonsense	probably null
R4944:Oas1h	UTSW	5	121,000,846 (GRCm39)	missense	probably damaging	1.00
R4961:Oas1h	UTSW	5	121,009,159 (GRCm39)	missense	probably damaging	1.00
R5160:Oas1h	UTSW	5	121,009,145 (GRCm39)	missense	probably damaging	1.00
R5698:Oas1h	UTSW	5	121,009,045 (GRCm39)	missense	probably damaging	1.00
R6014:Oas1h	UTSW	5	121,005,229 (GRCm39)	missense	possibly damaging	0.68
R7062:Oas1h	UTSW	5	120,999,528 (GRCm39)	unclassified	probably benign
R7966:Oas1h	UTSW	5	121,009,962 (GRCm39)	missense	probably damaging	0.97
R7975:Oas1h	UTSW	5	121,009,890 (GRCm39)	missense	probably damaging	1.00
R8777:Oas1h	UTSW	5	121,005,107 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Oas1h	UTSW	5	121,005,107 (GRCm39)	missense	probably damaging	1.00
R8951:Oas1h	UTSW	5	121,000,657 (GRCm39)	missense	probably damaging	1.00
R8987:Oas1h	UTSW	5	121,005,152 (GRCm39)	missense	probably damaging	1.00
R9748:Oas1h	UTSW	5	121,005,088 (GRCm39)	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