Incidental Mutation 'IGL02444:Oas1d'
ID293498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oas1d
Ensembl Gene ENSMUSG00000032623
Gene Name2'-5' oligoadenylate synthetase 1D
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02444
Quality Score
Status
Chromosome5
Chromosomal Location120914536-120921652 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120920008 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 338 (F338L)
Ref Sequence ENSEMBL: ENSMUSP00000048054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044224]
Predicted Effect probably benign
Transcript: ENSMUST00000044224
AA Change: F338L

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: F338L

DomainStartEndE-ValueType
low complexity region 107 119 N/A INTRINSIC
Pfam:OAS1_C 168 353 9.4e-76 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null females exhibit reduced fertility due to defects in ovarian follicle development and decreased efficiency of ovulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 43,569,673 I260T possibly damaging Het
Arhgap9 T A 10: 127,327,947 V484D probably damaging Het
Asph A G 4: 9,542,319 probably benign Het
Bbs9 T C 9: 22,643,787 S457P probably damaging Het
Bckdk A G 7: 127,907,446 T38A probably damaging Het
Cast G A 13: 74,739,853 T240I probably damaging Het
Cdc27 T C 11: 104,522,716 probably benign Het
Cdon T C 9: 35,473,448 S677P probably benign Het
Cfap161 T C 7: 83,776,145 E246G probably damaging Het
Dnah11 G A 12: 117,975,873 probably benign Het
Dnm3 C T 1: 162,010,875 V835I possibly damaging Het
Eif3a T C 19: 60,773,607 H510R possibly damaging Het
Fbxw2 G T 2: 34,805,781 T367K probably benign Het
Ghsr T C 3: 27,372,040 S82P probably benign Het
Gm4353 C T 7: 116,083,444 V301I probably benign Het
Golgb1 T C 16: 36,907,816 probably benign Het
Gria2 T A 3: 80,702,553 M650L possibly damaging Het
Herc4 T C 10: 63,306,433 V671A probably benign Het
Iqcb1 T A 16: 36,831,911 Y61* probably null Het
Irs2 C T 8: 11,006,306 G709S probably benign Het
Itpripl1 T G 2: 127,141,701 H167P possibly damaging Het
Kcnn3 T C 3: 89,652,052 V543A possibly damaging Het
Klf10 T A 15: 38,297,824 K43M probably damaging Het
Lcor C T 19: 41,559,011 R345C probably damaging Het
Lmntd2 A G 7: 141,211,919 S304P probably damaging Het
Lpar3 T C 3: 146,241,194 I209T probably damaging Het
Map3k13 T A 16: 21,914,232 M528K probably benign Het
Me1 A T 9: 86,582,914 probably benign Het
Nedd4l T G 18: 65,203,957 probably benign Het
Olfr15 T C 16: 3,839,687 F238S probably damaging Het
Olfr362 G T 2: 37,104,774 P292Q probably damaging Het
Pcdhb5 T C 18: 37,321,050 V161A probably benign Het
Prdx3 A T 19: 60,871,461 F91L possibly damaging Het
Rab25 T C 3: 88,542,713 T114A probably benign Het
Rasal2 T C 1: 157,299,195 E73G probably benign Het
Slco4c1 A G 1: 96,844,509 S252P probably damaging Het
Srgap2 A C 1: 131,325,153 probably null Het
Synpo A G 18: 60,602,430 S576P probably damaging Het
Tktl2 G T 8: 66,513,361 A524S possibly damaging Het
Tln2 A T 9: 67,258,592 probably benign Het
Tmem52 G A 4: 155,470,393 D158N probably damaging Het
Tyw3 T A 3: 154,596,989 Q36L probably damaging Het
Usp10 A T 8: 119,948,693 I483F possibly damaging Het
Usp31 A G 7: 121,679,495 Y216H probably damaging Het
Vmn1r181 T C 7: 23,984,523 S138P probably damaging Het
Vmn2r42 G T 7: 8,184,313 A770E probably damaging Het
Zfp292 A C 4: 34,808,810 S1411R possibly damaging Het
Other mutations in Oas1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Oas1d APN 5 120919207 missense possibly damaging 0.90
IGL01062:Oas1d APN 5 120919064 nonsense probably null
IGL01114:Oas1d APN 5 120916844 missense probably benign 0.08
IGL02336:Oas1d APN 5 120919048 missense probably damaging 1.00
R0080:Oas1d UTSW 5 120916892 missense possibly damaging 0.61
R0388:Oas1d UTSW 5 120917028 missense probably damaging 1.00
R0674:Oas1d UTSW 5 120919986 missense probably benign
R1344:Oas1d UTSW 5 120914896 missense probably damaging 1.00
R1719:Oas1d UTSW 5 120919962 missense possibly damaging 0.79
R1771:Oas1d UTSW 5 120915837 missense probably damaging 0.98
R3810:Oas1d UTSW 5 120914986 missense probably damaging 1.00
R4516:Oas1d UTSW 5 120919170 missense probably damaging 1.00
R4559:Oas1d UTSW 5 120916895 missense probably benign 0.00
R4819:Oas1d UTSW 5 120915717 missense probably damaging 1.00
R4926:Oas1d UTSW 5 120915768 missense probably benign
R5199:Oas1d UTSW 5 120919145 missense probably benign 0.03
R5392:Oas1d UTSW 5 120916940 missense possibly damaging 0.95
R5695:Oas1d UTSW 5 120915011 missense probably benign
R5769:Oas1d UTSW 5 120916854 missense probably benign 0.00
R6259:Oas1d UTSW 5 120919181 nonsense probably null
R7276:Oas1d UTSW 5 120916881 missense possibly damaging 0.48
R7446:Oas1d UTSW 5 120919991 missense probably benign
R7808:Oas1d UTSW 5 120914971 nonsense probably null
Z1176:Oas1d UTSW 5 120914914 missense probably benign 0.00
Posted On2015-04-16