Mutagenetix > Incidental Mutation

Incidental Mutation 'R3116:Oas1h'

264015

Institutional Source

Beutler Lab

Gene Symbol

Oas1h

Ensembl Gene

ENSMUSG00000001168

Gene Name

2'-5' oligoadenylate synthetase 1H

Synonyms

MMRRC Submission

040589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R3116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120999485-121011569 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 120999679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 55 (Q55*)

Ref Sequence

ENSEMBL: ENSMUSP00000132033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057814] [ENSMUST00000072476] [ENSMUST00000171820]

AlphaFold

Q8VI97

Predicted Effect

probably benign
Transcript: ENSMUST00000057814

SMART Domains

Protein: ENSMUSP00000056993
Gene: ENSMUSG00000053765

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

Predicted Effect

probably null
Transcript: ENSMUST00000072476
AA Change: Q55*

SMART Domains

Protein: ENSMUSP00000072297
Gene: ENSMUSG00000001168
AA Change: Q55*

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

probably null
Transcript: ENSMUST00000171820
AA Change: Q55*

SMART Domains

Protein: ENSMUSP00000132033
Gene: ENSMUSG00000001168
AA Change: Q55*

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,946,610 (GRCm39)	I37F	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Ccdc146	T	C	5: 21,521,953 (GRCm39)	N357S	probably benign	Het
Csmd3	A	G	15: 47,520,995 (GRCm39)	F2783S	probably damaging	Het
Desi2	T	A	1: 178,072,008 (GRCm39)	M104K	probably damaging	Het
Disp1	C	T	1: 182,870,486 (GRCm39)	V645I	probably benign	Het
Dock8	A	T	19: 25,165,858 (GRCm39)	H1914L	probably benign	Het
Fdft1	T	C	14: 63,415,147 (GRCm39)	I28M	probably benign	Het
Ffar3	T	C	7: 30,555,231 (GRCm39)	M30V	probably benign	Het
Grm3	A	T	5: 9,620,752 (GRCm39)	F164Y	probably damaging	Het
Ints5	T	C	19: 8,872,136 (GRCm39)	S32P	possibly damaging	Het
Itgam	T	A	7: 127,715,201 (GRCm39)	S908R	probably damaging	Het
Kif20b	C	T	19: 34,947,480 (GRCm39)	P1565L	probably benign	Het
Kntc1	A	G	5: 123,940,121 (GRCm39)	E1610G	probably damaging	Het
Krt24	T	A	11: 99,173,262 (GRCm39)	T298S	possibly damaging	Het
Magoh	T	C	4: 107,744,409 (GRCm39)	V126A	possibly damaging	Het
Marchf6	G	A	15: 31,486,265 (GRCm39)	S362F	probably benign	Het
Meak7	G	A	8: 120,495,056 (GRCm39)	A234V	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Ncor2	A	T	5: 125,101,230 (GRCm39)	L2195Q	probably damaging	Het
Neil1	A	T	9: 57,053,947 (GRCm39)	D124E	probably benign	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nipbl	T	A	15: 8,373,076 (GRCm39)	M1057L	probably benign	Het
Npas3	G	A	12: 54,114,508 (GRCm39)		probably null	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or2ag2b	T	A	7: 106,417,571 (GRCm39)	F94I	probably damaging	Het
Or52h9	C	A	7: 104,202,295 (GRCm39)	H56Q	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Or7d9	A	T	9: 20,197,523 (GRCm39)	H176L	probably benign	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Pum1	T	C	4: 130,499,971 (GRCm39)	V1051A	probably damaging	Het
Pxdn	T	C	12: 30,052,306 (GRCm39)	S828P	possibly damaging	Het
Rad21	T	A	15: 51,828,397 (GRCm39)	E557V	probably null	Het
Rtn3	T	G	19: 7,409,355 (GRCm39)	N888H	probably damaging	Het
Slc12a5	T	A	2: 164,838,101 (GRCm39)		probably null	Het
Slc7a11	T	A	3: 50,338,588 (GRCm39)	M274L	probably benign	Het
Tacc2	A	G	7: 130,360,979 (GRCm39)	N825S	probably damaging	Het
Tln2	T	A	9: 67,262,421 (GRCm39)	D610V	probably benign	Het
Tmed11	C	T	5: 108,927,705 (GRCm39)	V110M	probably damaging	Het
Tmem92	T	C	11: 94,673,254 (GRCm39)	D3G	possibly damaging	Het
Trp53rkb	C	T	2: 166,636,009 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,882,522 (GRCm39)	L209P	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp804a	C	A	2: 82,089,761 (GRCm39)	Q1197K	probably damaging	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
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
R5903:Oas1h	UTSW	5	121,009,040 (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'- GTCAGCAAACATTCCTGCC -3'
(R):5'- ATCAGTCCAGTCATCCAGCAG -3'

Sequencing Primer
(F):5'- CCTCAGGATGGCGAAAAACCTTAG -3'
(R):5'- AGTCATCCAGCAGTGGGGTC -3'

Posted On

2015-02-05