Incidental Mutation 'IGL01890:Oas1h'
ID 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: 0.055) question?
Stock # IGL01890
Quality Score
Status
Chromosome 5
Chromosomal Location 120999485-121011569 bp(+) (GRCm39)
Type of Mutation splice site (4803 bp from exon)
DNA Base Change (assembly) A to G at 121000852 bp (GRCm39)
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

DomainStartEndE-ValueType
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

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 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

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A T 12: 80,231,642 (GRCm39) V265E probably damaging Het
Anks1b A G 10: 90,480,389 (GRCm39) I865V probably benign Het
Car5a G A 8: 122,650,349 (GRCm39) A182V probably benign Het
Ccdc47 A G 11: 106,096,277 (GRCm39) V249A probably damaging Het
Cyb561d2 A G 9: 107,418,722 (GRCm39) V34A probably damaging Het
Dmbt1 A G 7: 130,676,149 (GRCm39) probably benign Het
Entpd6 G A 2: 150,612,612 (GRCm39) D445N possibly damaging Het
Fastkd2 A G 1: 63,771,320 (GRCm39) I225M probably benign Het
Flcn A G 11: 59,685,996 (GRCm39) V424A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpn3 A G 5: 122,519,328 (GRCm39) M176V probably benign Het
Igkv12-38 C T 6: 69,920,389 (GRCm39) C43Y probably damaging Het
Rexo1 A T 10: 80,378,845 (GRCm39) Y1064N possibly damaging Het
Skint1 G A 4: 111,867,878 (GRCm39) G2R probably damaging Het
Slc4a9 G A 18: 36,662,760 (GRCm39) A172T possibly damaging Het
Synpo2 A G 3: 122,906,146 (GRCm39) S727P probably damaging Het
Tmem131 A T 1: 36,862,237 (GRCm39) probably benign Het
Trpm3 G T 19: 22,689,083 (GRCm39) R4L probably damaging Het
Upf1 A T 8: 70,786,880 (GRCm39) V879E possibly damaging Het
Vmn1r194 A T 13: 22,428,776 (GRCm39) Y131F probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r95 T A 17: 18,671,737 (GRCm39) N491K probably damaging Het
Other mutations in Oas1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01676:Oas1h APN 5 121,009,897 (GRCm39) missense probably damaging 1.00
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
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 2014-05-07