Incidental Mutation 'IGL01114:Oas1d'
ID51130
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 #IGL01114
Quality Score
Status
Chromosome5
Chromosomal Location120914536-120921652 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 120916844 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 160 (V160I)
Ref Sequence ENSEMBL: ENSMUSP00000048054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044224]
Predicted Effect probably benign
Transcript: ENSMUST00000044224
AA Change: V160I

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: V160I

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700101I19Rik T C 1: 34,579,289 probably benign Het
Abca15 T G 7: 120,361,420 Y702D probably damaging Het
Abcc8 T C 7: 46,104,664 K1576R probably benign Het
Acot12 T A 13: 91,757,592 probably benign Het
Adamts13 A G 2: 27,005,190 I1098V probably benign Het
Adcy6 C T 15: 98,598,976 V471M probably damaging Het
Ccdc170 C A 10: 4,558,550 D591E probably benign Het
Corin A C 5: 72,305,011 D826E probably damaging Het
Cpsf2 T G 12: 101,989,839 N300K possibly damaging Het
Csmd2 C T 4: 128,369,130 T703I probably benign Het
D130043K22Rik T A 13: 24,857,156 L187Q probably damaging Het
D430041D05Rik G T 2: 104,258,166 S155* probably null Het
Dmrtc2 C T 7: 24,872,576 P32L probably damaging Het
Dsel G A 1: 111,860,061 R915* probably null Het
Fam124b T C 1: 80,213,135 Y177C possibly damaging Het
Fam171b G A 2: 83,876,728 W314* probably null Het
Gpn1 G T 5: 31,498,401 D103Y probably damaging Het
Gpr89 A T 3: 96,893,549 F88I probably damaging Het
Ifi27 T C 12: 103,437,533 probably benign Het
Kdelc2 T C 9: 53,388,579 probably null Het
Kdm4d A G 9: 14,464,197 Y122H probably damaging Het
Olfr1462 A G 19: 13,191,234 D189G possibly damaging Het
Olfr862 A T 9: 19,883,548 Y252* probably null Het
Rrp1b C T 17: 32,052,819 P288S probably benign Het
Sin3b A G 8: 72,744,505 K360R probably benign Het
Sympk A G 7: 19,047,573 D818G probably benign Het
Tecpr2 A G 12: 110,967,779 D1291G possibly damaging Het
Tep1 C T 14: 50,850,639 V814M probably damaging Het
Tpsg1 T C 17: 25,373,222 V17A probably benign 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
IGL02336:Oas1d APN 5 120919048 missense probably damaging 1.00
IGL02444:Oas1d APN 5 120920008 missense probably benign 0.25
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 On2013-06-21