Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01890:Oas1h'

179229

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oas1h

Ensembl Gene

ENSMUSG00000001168

Gene Name

2'-5' oligoadenylate synthetase 1H

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01890

Quality Score

Status

Chromosome

Chromosomal Location

120861421-120873506 bp(+) (GRCm38)

Type of Mutation

splice site (4803 bp from exon)

DNA Base Change (assembly)

A to G at 120862789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056993 (fasta)

Gene Model

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

AlphaFold

Q8VI97

Predicted Effect

probably null
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 damaging
Transcript: ENSMUST00000072476
AA Change: E154G

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

SMART Domains

Protein: ENSMUSP00000072297
Gene: ENSMUSG00000001168
AA Change: E154G

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 damaging
Transcript: ENSMUST00000171820
AA Change: E154G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132033
Gene: ENSMUSG00000001168
AA Change: E154G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	T	12: 80,184,868	V265E	probably damaging	Het
Anks1b	A	G	10: 90,644,527	I865V	probably benign	Het
Car5a	G	A	8: 121,923,610	A182V	probably benign	Het
Ccdc47	A	G	11: 106,205,451	V249A	probably damaging	Het
Cyb561d2	A	G	9: 107,541,523	V34A	probably damaging	Het
Dmbt1	A	G	7: 131,074,419		probably benign	Het
Entpd6	G	A	2: 150,770,692	D445N	possibly damaging	Het
Fastkd2	A	G	1: 63,732,161	I225M	probably benign	Het
Flcn	A	G	11: 59,795,170	V424A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gpn3	A	G	5: 122,381,265	M176V	probably benign	Het
Igkv12-38	C	T	6: 69,943,405	C43Y	probably damaging	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Skint1	G	A	4: 112,010,681	G2R	probably damaging	Het
Slc4a9	G	A	18: 36,529,707	A172T	possibly damaging	Het
Synpo2	A	G	3: 123,112,497	S727P	probably damaging	Het
Tmem131	A	T	1: 36,823,156		probably benign	Het
Trpm3	G	T	19: 22,711,719	R4L	probably damaging	Het
Upf1	A	T	8: 70,334,230	V879E	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,606	Y131F	probably benign	Het
Vmn2r95	T	A	17: 18,451,475	N491K	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Oas1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01676:Oas1h	APN	5	120871834	missense	probably damaging	1.00
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
R5903:Oas1h	UTSW	5	120870977	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

Posted On

2014-05-07