Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02745:Oas1h'

306106

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: 0.068) question?

Stock #

IGL02745

Quality Score

Status

Chromosome

Chromosomal Location

120999485-121011569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120999542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 9 (R9Q)

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 benign
Transcript: ENSMUST00000072476
AA Change: R9Q

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000072297
Gene: ENSMUSG00000001168
AA Change: R9Q

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 benign
Transcript: ENSMUST00000171820
AA Change: R9Q

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132033
Gene: ENSMUSG00000001168
AA Change: R9Q

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,282 (GRCm39)	E167G	probably benign	Het
Aldh1a1	A	G	19: 20,614,028 (GRCm39)		probably benign	Het
Ankrd44	T	C	1: 54,805,950 (GRCm39)	H152R	probably damaging	Het
Bpifb4	T	A	2: 153,789,141 (GRCm39)	L316Q	probably damaging	Het
C2cd5	A	T	6: 142,987,256 (GRCm39)	L155I	probably benign	Het
Chrdl2	T	A	7: 99,670,170 (GRCm39)	C98S	probably damaging	Het
Clnk	A	G	5: 38,893,662 (GRCm39)	S232P	probably benign	Het
Csf3	A	G	11: 98,593,303 (GRCm39)	D140G	probably damaging	Het
Dnah7b	T	A	1: 46,234,189 (GRCm39)		probably benign	Het
Fetub	T	C	16: 22,756,676 (GRCm39)	V259A	probably damaging	Het
Gga2	G	T	7: 121,607,592 (GRCm39)	R108S	probably damaging	Het
Hip1r	C	A	5: 124,129,002 (GRCm39)		probably null	Het
Hsd17b3	A	G	13: 64,234,990 (GRCm39)	F62L	probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Man1a	C	T	10: 53,853,206 (GRCm39)	R304Q	probably damaging	Het
Med17	A	G	9: 15,176,642 (GRCm39)		probably benign	Het
Mrgprb4	T	C	7: 47,848,106 (GRCm39)	Y274C	probably damaging	Het
Myh8	C	T	11: 67,188,327 (GRCm39)	T996I	possibly damaging	Het
Niban3	G	T	8: 72,057,682 (GRCm39)		probably null	Het
Nlrp4e	T	A	7: 23,020,716 (GRCm39)	L401Q	probably damaging	Het
Or4c111	A	G	2: 88,844,232 (GRCm39)	Y59H	probably damaging	Het
Or4d10b	C	T	19: 12,036,565 (GRCm39)	V184I	probably benign	Het
Or8g51	T	C	9: 38,609,494 (GRCm39)	H56R	probably damaging	Het
Otor	A	G	2: 142,923,076 (GRCm39)	D122G	possibly damaging	Het
Pcdh18	T	A	3: 49,710,340 (GRCm39)	Q325L	probably damaging	Het
Ppfibp1	T	C	6: 146,923,852 (GRCm39)		probably benign	Het
Pramel16	A	T	4: 143,677,294 (GRCm39)	L95Q	probably damaging	Het
Prlr	T	A	15: 10,328,680 (GRCm39)	I385N	possibly damaging	Het
Rap1gds1	A	G	3: 138,662,002 (GRCm39)	V418A	probably damaging	Het
Rdh1	A	T	10: 127,601,288 (GRCm39)	T279S	probably benign	Het
Slc17a3	C	A	13: 24,026,469 (GRCm39)	Q13K	probably benign	Het
Slc22a20	T	C	19: 6,022,901 (GRCm39)	N414S	probably damaging	Het
Slc4a1	C	A	11: 102,247,093 (GRCm39)	C498F	probably damaging	Het
Sp8	G	A	12: 118,813,326 (GRCm39)	G394S	probably damaging	Het
Ssh2	C	T	11: 77,346,233 (GRCm39)	T1406I	probably damaging	Het
Stra6	T	A	9: 58,059,321 (GRCm39)	D561E	probably damaging	Het
Stxbp5l	G	A	16: 37,007,016 (GRCm39)	Q726*	probably null	Het
Synpo2	G	A	3: 122,907,261 (GRCm39)	T685I	probably damaging	Het
Tasor2	A	T	13: 3,635,140 (GRCm39)	S556T	probably benign	Het
Ttc27	A	G	17: 75,046,728 (GRCm39)	D263G	probably benign	Het
Ttn	G	A	2: 76,594,332 (GRCm39)	P18793S	possibly damaging	Het
Vmn2r109	A	G	17: 20,761,512 (GRCm39)	V615A	probably damaging	Het
Vmn2r76	T	G	7: 85,879,495 (GRCm39)	K268N	probably benign	Het
Zeb2	A	G	2: 44,884,487 (GRCm39)		probably benign	Het
Zfp286	C	A	11: 62,671,700 (GRCm39)	K124N	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
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
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

Posted On

2015-04-16