Incidental Mutation 'R5769:Oas1d'
ID446430
Institutional Source Beutler Lab
Gene Symbol Oas1d
Ensembl Gene ENSMUSG00000032623
Gene Name2'-5' oligoadenylate synthetase 1D
Synonyms
MMRRC Submission 043369-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5769 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location120914536-120921652 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120916854 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 163 (F163S)
Ref Sequence ENSEMBL: ENSMUSP00000048054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044224]
Predicted Effect probably benign
Transcript: ENSMUST00000044224
AA Change: F163S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: F163S

DomainStartEndE-ValueType
low complexity region 107 119 N/A INTRINSIC
Pfam:OAS1_C 168 353 9.4e-76 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (65/66)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,646,333 V160E possibly damaging Het
Abcb1a A C 5: 8,683,426 E106A probably benign Het
Acap3 A T 4: 155,902,400 D371V probably damaging Het
Ahi1 T C 10: 20,960,082 probably null Het
Coq8a A G 1: 180,179,116 Y69H probably damaging Het
Defb33 T A 8: 20,897,527 F27I possibly damaging Het
Dhx29 T A 13: 112,953,717 L776Q probably damaging Het
Dnah3 G A 7: 120,089,952 R80* probably null Het
Dtna A T 18: 23,651,554 D646V probably benign Het
Eml5 T A 12: 98,790,619 D1964V probably damaging Het
Fbn2 A T 18: 58,105,199 N575K probably damaging Het
Fbxo38 G A 18: 62,514,965 P834L probably benign Het
Fyb2 G T 4: 105,013,321 K706N probably damaging Het
Fyb2 T A 4: 105,015,644 V738E probably damaging Het
Gcm1 A G 9: 78,064,967 T397A probably benign Het
Gins1 A T 2: 150,925,998 E149D probably damaging Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gm12845 A C 4: 117,728,965 probably benign Het
Gm14124 A G 2: 150,268,278 E296G possibly damaging Het
Grin2a C T 16: 9,761,526 R291K possibly damaging Het
Hdac10 T C 15: 89,123,616 M646V probably benign Het
Hes6 G T 1: 91,412,949 R38S probably damaging Het
Hipk3 G A 2: 104,434,953 P667S possibly damaging Het
Jrk T C 15: 74,706,068 Q456R probably benign Het
Loxl3 A G 6: 83,050,600 T708A probably damaging Het
Lyg1 T C 1: 37,950,750 S19G unknown Het
Magel2 T A 7: 62,378,113 M255K probably benign Het
Mctp1 A G 13: 76,759,808 D242G probably damaging Het
Med13 A T 11: 86,346,003 N109K probably benign Het
Mms19 A G 19: 41,964,386 F95L probably damaging Het
Nav1 A G 1: 135,452,257 L1569P probably damaging Het
Nup188 A G 2: 30,330,735 E940G probably benign Het
Odf2l A G 3: 145,135,731 K304R possibly damaging Het
Otud3 T A 4: 138,898,110 N211I possibly damaging Het
Pabpc6 A T 17: 9,667,843 L593* probably null Het
Pdcd11 T A 19: 47,102,637 L350Q possibly damaging Het
Pdia4 A G 6: 47,815,512 probably benign Het
Pik3cb G A 9: 99,093,159 Q223* probably null Het
Plb1 G A 5: 32,317,522 V696M probably benign Het
Ppp2r5a T C 1: 191,372,666 D61G probably benign Het
Preb G T 5: 30,958,291 Y87* probably null Het
Rdh16f2 A T 10: 127,876,889 N252I probably benign Het
Rida T C 15: 34,484,558 probably benign Het
Rxrb T C 17: 34,032,847 probably benign Het
Sis T A 3: 72,928,235 K931N probably damaging Het
Srcap T A 7: 127,559,822 probably benign Het
Srp68 A G 11: 116,246,669 S525P probably damaging Het
Susd2 C T 10: 75,638,019 A581T probably damaging Het
Synj1 A G 16: 90,938,253 probably benign Het
Syt12 T C 19: 4,451,044 Y326C probably damaging Het
Tesk2 A G 4: 116,802,315 probably null Het
Tmem41b G A 7: 109,978,738 T113I possibly damaging Het
Tmtc2 T C 10: 105,370,046 I463V probably benign Het
Trak1 A T 9: 121,448,838 D320V probably damaging Het
Ushbp1 A T 8: 71,386,219 N570K probably benign Het
Vmn1r33 T A 6: 66,611,833 I246F possibly damaging Het
Vmn2r54 A C 7: 12,615,282 L791R possibly damaging Het
Washc1 A T 17: 66,118,116 T372S 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
IGL01114:Oas1d APN 5 120916844 missense probably benign 0.08
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
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
Predicted Primers PCR Primer
(F):5'- GCAACCTACTATGAGCAGTTGG -3'
(R):5'- CAGTGCTTGACCAAACGGATG -3'

Sequencing Primer
(F):5'- GTCATTTCACACCATCCAGAGGTG -3'
(R):5'- CTTGACCAAACGGATGAGGTTCC -3'
Posted On2016-11-21