Incidental Mutation 'IGL02054:Oasl2'
ID185175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oasl2
Ensembl Gene ENSMUSG00000029561
Gene Name2'-5' oligoadenylate synthetase-like 2
SynonymsMmu-OASL, M1204
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02054
Quality Score
Status
Chromosome5
Chromosomal Location114896936-114912234 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114897806 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 48 (C48R)
Ref Sequence ENSEMBL: ENSMUSP00000119042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031542] [ENSMUST00000124716] [ENSMUST00000146072] [ENSMUST00000150361]
Predicted Effect probably damaging
Transcript: ENSMUST00000031542
AA Change: C48R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031542
Gene: ENSMUSG00000029561
AA Change: C48R

DomainStartEndE-ValueType
low complexity region 63 73 N/A INTRINSIC
Pfam:OAS1_C 169 351 8.4e-77 PFAM
SCOP:d1euvb_ 355 427 4e-4 SMART
Blast:UBQ 355 430 9e-30 BLAST
UBQ 435 506 8.88e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124716
SMART Domains Protein: ENSMUSP00000115070
Gene: ENSMUSG00000029561

DomainStartEndE-ValueType
Pfam:OAS1_C 1 131 1.2e-48 PFAM
SCOP:d1euvb_ 135 207 6e-5 SMART
Blast:UBQ 135 210 9e-32 BLAST
Blast:UBQ 215 240 5e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137828
Predicted Effect unknown
Transcript: ENSMUST00000144064
AA Change: C22R
Predicted Effect probably damaging
Transcript: ENSMUST00000146072
AA Change: C48R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117795
Gene: ENSMUSG00000029561
AA Change: C48R

DomainStartEndE-ValueType
PDB:1PX5|B 6 101 4e-10 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000150361
AA Change: C48R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119042
Gene: ENSMUSG00000029561
AA Change: C48R

DomainStartEndE-ValueType
PDB:1PX5|B 6 140 3e-13 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201919
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G T 11: 110,292,123 P1036Q probably damaging Het
Bag4 T C 8: 25,771,225 S163G probably benign Het
Camkk1 G A 11: 73,025,882 R102Q probably damaging Het
Caprin1 A C 2: 103,771,798 probably null Het
Cct8 A T 16: 87,490,476 probably benign Het
Dlgap2 A G 8: 14,843,552 M941V probably damaging Het
Dock7 C T 4: 98,973,409 R1327Q probably damaging Het
Fam160a2 A G 7: 105,384,423 S529P probably damaging Het
Gbp9 T C 5: 105,082,807 D417G probably benign Het
Gemin2 G A 12: 59,021,737 probably null Het
Grk6 G T 13: 55,454,397 A346S probably benign Het
Gtf2h1 A G 7: 46,815,425 probably benign Het
Irak3 T A 10: 120,176,259 Q200L probably benign Het
Irx4 A G 13: 73,268,828 T448A probably damaging Het
Iws1 T C 18: 32,090,542 probably null Het
Kcnk18 G A 19: 59,235,613 probably benign Het
Klk1b11 C A 7: 43,998,827 S86Y possibly damaging Het
Lgals7 T C 7: 28,866,189 F136S probably damaging Het
Luc7l T A 17: 26,279,340 probably benign Het
Mta2 T A 19: 8,950,912 V525E probably benign Het
Mtnr1b G T 9: 15,874,240 A74E possibly damaging Het
Myo1c A G 11: 75,661,136 T354A probably benign Het
Nat1 T C 8: 67,491,422 F153S probably damaging Het
Olfr1313 T G 2: 112,071,924 I220L probably benign Het
Pkm C A 9: 59,678,201 R489S probably damaging Het
Pth2r T A 1: 65,336,781 I66N probably damaging Het
Slc25a18 T C 6: 120,792,397 probably null Het
Tnip3 T C 6: 65,590,611 S2P possibly damaging Het
Vmn2r61 T C 7: 42,276,734 probably null Het
Other mutations in Oasl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02649:Oasl2 APN 5 114897692 missense probably damaging 1.00
IGL02810:Oasl2 APN 5 114897791 missense probably damaging 1.00
IGL03153:Oasl2 APN 5 114901332 missense probably benign 0.02
R0179:Oasl2 UTSW 5 114910912 missense probably benign
R1318:Oasl2 UTSW 5 114901381 missense probably benign 0.01
R1831:Oasl2 UTSW 5 114901306 missense probably benign 0.00
R1941:Oasl2 UTSW 5 114911362 utr 3 prime probably benign
R2068:Oasl2 UTSW 5 114911237 missense probably benign 0.01
R2104:Oasl2 UTSW 5 114911002 nonsense probably null
R2170:Oasl2 UTSW 5 114906800 missense probably damaging 0.99
R2437:Oasl2 UTSW 5 114911296 missense probably benign
R2882:Oasl2 UTSW 5 114911023 missense probably damaging 1.00
R3960:Oasl2 UTSW 5 114905037 missense probably benign 0.03
R3962:Oasl2 UTSW 5 114897747 missense probably benign 0.01
R4609:Oasl2 UTSW 5 114899796 missense possibly damaging 0.47
R4761:Oasl2 UTSW 5 114899775 missense probably benign 0.00
R5242:Oasl2 UTSW 5 114905061 missense possibly damaging 0.92
R5691:Oasl2 UTSW 5 114899767 missense possibly damaging 0.93
R6594:Oasl2 UTSW 5 114906775 missense probably benign 0.30
R7053:Oasl2 UTSW 5 114911230 missense possibly damaging 0.82
R7062:Oasl2 UTSW 5 114911091 nonsense probably null
R7688:Oasl2 UTSW 5 114897848 missense probably benign 0.01
R7753:Oasl2 UTSW 5 114905057 missense probably benign
R8026:Oasl2 UTSW 5 114902268 unclassified probably benign
R8160:Oasl2 UTSW 5 114901286 unclassified probably benign
R8479:Oasl2 UTSW 5 114897791 missense probably damaging 1.00
Posted On2014-05-07