Incidental Mutation 'IGL02652:Oas1e'
ID 302188
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oas1e
Ensembl Gene ENSMUSG00000066867
Gene Name 2'-5' oligoadenylate synthetase 1E
Synonyms 2'-5' oligoadenylate synthetase-like 7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02652
Quality Score
Status
Chromosome 5
Chromosomal Location 120924377-120933595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120933470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 32 (R32G)
Ref Sequence ENSEMBL: ENSMUSP00000144442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100785] [ENSMUST00000117193] [ENSMUST00000200786] [ENSMUST00000201172]
AlphaFold A0A0J9YV76
Predicted Effect probably benign
Transcript: ENSMUST00000100785
AA Change: R32G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000098348
Gene: ENSMUSG00000066867
AA Change: R32G

DomainStartEndE-ValueType
Pfam:OAS1_C 168 353 4.3e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117193
SMART Domains Protein: ENSMUSP00000112584
Gene: ENSMUSG00000001166

DomainStartEndE-ValueType
Pfam:OAS1_C 168 354 1.4e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200786
AA Change: R32G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144442
Gene: ENSMUSG00000066867
AA Change: R32G

DomainStartEndE-ValueType
PDB:1PX5|B 4 60 4e-14 PDB
low complexity region 82 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201006
Predicted Effect probably damaging
Transcript: ENSMUST00000201172
AA Change: R32G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144529
Gene: ENSMUSG00000066867
AA Change: R32G

DomainStartEndE-ValueType
Pfam:OAS1_C 168 353 2.7e-71 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Oas1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Oas1e APN 5 120,932,337 (GRCm39) missense probably damaging 1.00
IGL02072:Oas1e APN 5 120,929,846 (GRCm39) critical splice donor site probably null
R0049:Oas1e UTSW 5 120,933,395 (GRCm39) missense probably benign 0.01
R0242:Oas1e UTSW 5 120,929,839 (GRCm39) splice site probably benign
R0325:Oas1e UTSW 5 120,933,460 (GRCm39) missense probably damaging 1.00
R1528:Oas1e UTSW 5 120,926,054 (GRCm39) missense probably damaging 1.00
R3438:Oas1e UTSW 5 120,933,475 (GRCm39) missense probably damaging 1.00
R3790:Oas1e UTSW 5 120,933,475 (GRCm39) missense probably damaging 1.00
R3963:Oas1e UTSW 5 120,932,205 (GRCm39) missense probably damaging 1.00
R4811:Oas1e UTSW 5 120,933,448 (GRCm39) missense probably damaging 0.98
R5095:Oas1e UTSW 5 120,932,329 (GRCm39) nonsense probably null
R5327:Oas1e UTSW 5 120,930,006 (GRCm39) missense probably damaging 1.00
R5860:Oas1e UTSW 5 120,930,015 (GRCm39) missense probably benign 0.13
R5909:Oas1e UTSW 5 120,926,972 (GRCm39) missense probably damaging 0.98
R6503:Oas1e UTSW 5 120,926,042 (GRCm39) missense probably benign 0.39
R7167:Oas1e UTSW 5 120,933,487 (GRCm39) missense probably benign 0.35
R7515:Oas1e UTSW 5 120,929,951 (GRCm39) missense probably damaging 1.00
R7563:Oas1e UTSW 5 120,927,021 (GRCm39) missense probably benign 0.00
R8114:Oas1e UTSW 5 120,924,708 (GRCm39) missense unknown
R8133:Oas1e UTSW 5 120,926,060 (GRCm39) missense probably benign 0.00
R8351:Oas1e UTSW 5 120,925,008 (GRCm39) splice site probably null
R8710:Oas1e UTSW 5 120,930,027 (GRCm39) nonsense probably null
R9667:Oas1e UTSW 5 120,932,347 (GRCm39) missense probably benign 0.28
RF020:Oas1e UTSW 5 120,932,383 (GRCm39) missense possibly damaging 0.58
Posted On 2015-04-16