Incidental Mutation 'IGL02970:Oas1h'
ID365759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oas1h
Ensembl Gene ENSMUSG00000001168
Gene Name2'-5' oligoadenylate synthetase 1H
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02970
Quality Score
Status
Chromosome5
Chromosomal Location120861421-120873506 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120861635 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 61 (M61K)
Ref Sequence ENSEMBL: ENSMUSP00000132033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057814] [ENSMUST00000072476] [ENSMUST00000171820]
Predicted Effect probably benign
Transcript: ENSMUST00000057814
SMART Domains Protein: ENSMUSP00000056993
Gene: ENSMUSG00000053765

DomainStartEndE-ValueType
Pfam:OAS1_C 169 353 4.6e-81 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000072476
AA Change: M61K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072297
Gene: ENSMUSG00000001168
AA Change: M61K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000171820
AA Change: M61K

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132033
Gene: ENSMUSG00000001168
AA Change: M61K

DomainStartEndE-ValueType
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,187,589 G5S probably damaging Het
A2ml1 A T 6: 128,569,979 F396I probably damaging Het
BC051019 T A 7: 109,716,055 N331I probably benign Het
Crocc G A 4: 141,030,246 S912L possibly damaging Het
Dcaf4 A G 12: 83,529,215 D46G probably damaging Het
Dido1 C T 2: 180,689,415 R80Q probably damaging Het
Dnase2b A G 3: 146,582,506 V278A probably damaging Het
Drosha C T 15: 12,913,956 L1106F probably damaging Het
Dsc3 C A 18: 19,968,260 W692L probably damaging Het
F2 T A 2: 91,625,551 Y579F possibly damaging Het
Fam126b T C 1: 58,539,617 E258G probably damaging Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gm9772 A G 17: 22,006,559 F120S probably damaging Het
Gsdma3 T C 11: 98,632,993 S251P probably benign Het
Itgam G A 7: 128,086,043 E443K probably benign Het
Kif18a T C 2: 109,287,888 V16A probably damaging Het
Lrrn3 T G 12: 41,452,360 S653R probably benign Het
Map1b A T 13: 99,430,734 Y1826* probably null Het
Mbnl1 T C 3: 60,613,423 F139S probably damaging Het
Micu3 T C 8: 40,382,130 Y509H possibly damaging Het
Ncmap T C 4: 135,377,018 T17A probably damaging Het
Otog T A 7: 46,295,867 W2183R probably benign Het
Pcdh15 T C 10: 74,290,962 probably benign Het
Plekho1 C T 3: 95,990,902 V150I probably damaging Het
Ppargc1b A G 18: 61,298,766 S1004P probably damaging Het
Prf1 T C 10: 61,300,178 S78P probably benign Het
Prss12 A G 3: 123,482,762 S347G probably benign Het
Rai1 T C 11: 60,185,733 S208P probably damaging Het
Sgms1 A G 19: 32,159,765 Y134H probably damaging Het
Sult2a4 A G 7: 13,909,906 probably benign Het
T C T 17: 8,435,385 A134V probably damaging Het
Thoc5 A G 11: 4,904,201 T187A probably damaging Het
Ticrr A G 7: 79,695,171 S1595G probably benign Het
Tiprl A G 1: 165,236,746 S30P probably damaging Het
Ttl T C 2: 129,076,070 S151P probably damaging Het
Ttn T A 2: 76,752,990 T22520S probably damaging Het
Usp54 G A 14: 20,577,472 S420L probably damaging Het
Vmn1r62 T A 7: 5,675,568 Y83N possibly damaging Het
Other mutations in Oas1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01676:Oas1h APN 5 120871834 missense probably damaging 1.00
IGL01890:Oas1h APN 5 120862789 unclassified probably null
IGL02745:Oas1h APN 5 120861479 missense probably benign 0.04
IGL02888:Oas1h APN 5 120861547 missense probably benign 0.34
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
Posted On2015-12-18