Incidental Mutation 'R5016:Miox'
ID385594
Institutional Source Beutler Lab
Gene Symbol Miox
Ensembl Gene ENSMUSG00000022613
Gene Namemyo-inositol oxygenase
SynonymsC85427, 0610009I10Rik, RSOR, Aldrl6
MMRRC Submission 042607-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #R5016 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location89334398-89337015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89335564 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 85 (D85G)
Ref Sequence ENSEMBL: ENSMUSP00000023282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023282] [ENSMUST00000162756]
PDB Structure
Crystal structure of mouse myo-inositol oxygenase in complex with substrate [X-RAY DIFFRACTION]
Crystal structure of Mouse Myo-inositol oxygenase (re-refined) [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000023282
AA Change: D85G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023282
Gene: ENSMUSG00000022613
AA Change: D85G

DomainStartEndE-ValueType
Pfam:MIOX 31 285 2.1e-125 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161437
Predicted Effect probably benign
Transcript: ENSMUST00000162033
SMART Domains Protein: ENSMUSP00000123732
Gene: ENSMUSG00000022613

DomainStartEndE-ValueType
Pfam:MIOX 1 53 7.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162756
SMART Domains Protein: ENSMUSP00000125302
Gene: ENSMUSG00000022613

DomainStartEndE-ValueType
Pfam:DUF706 40 128 8.7e-30 PFAM
Meta Mutation Damage Score 0.58 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 91.0%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,671,268 P768S probably damaging Het
Adprhl1 A G 8: 13,224,889 L623P possibly damaging Het
Anapc1 A T 2: 128,607,175 probably benign Het
Ankzf1 C A 1: 75,195,978 probably benign Het
Ash1l A G 3: 88,982,323 D503G probably damaging Het
Atp7b T C 8: 22,015,869 probably null Het
Bach1 T A 16: 87,719,318 V249D possibly damaging Het
Ccdc158 A G 5: 92,657,892 S335P probably benign Het
Chd9 T A 8: 91,006,626 C1374* probably null Het
Col16a1 C T 4: 130,079,195 T643M probably benign Het
Cygb A G 11: 116,650,014 F49L probably benign Het
Dnah17 G C 11: 118,080,766 T2147S probably damaging Het
Drd3 C A 16: 43,762,246 A34E possibly damaging Het
Ephb6 G A 6: 41,618,107 R685Q probably benign Het
Ezh1 G A 11: 101,199,237 probably benign Het
Gpr19 T A 6: 134,869,917 K231* probably null Het
Gpr61 A G 3: 108,150,667 V226A possibly damaging Het
Gprc5c G T 11: 114,864,267 V257L possibly damaging Het
Hnrnpul2 A G 19: 8,822,825 K185R possibly damaging Het
Igsf9 A C 1: 172,490,712 T140P probably damaging Het
Ksr2 A G 5: 117,500,792 D87G probably benign Het
Llgl2 A G 11: 115,853,424 E843G probably damaging Het
Ltbp4 GT G 7: 27,327,685 probably null Het
Luc7l2 A G 6: 38,585,101 I20V possibly damaging Het
Mcm6 G A 1: 128,343,427 T485M probably damaging Het
Nudt18 T C 14: 70,579,463 F169S probably benign Het
Nxpe4 A G 9: 48,392,885 N91D probably benign Het
Olfr1089 T G 2: 86,732,746 I289L probably benign Het
Olfr155 T C 4: 43,854,596 S96P probably benign Het
Olfr811 A G 10: 129,801,793 V244A probably benign Het
Pdss2 G T 10: 43,222,005 A82S probably damaging Het
Ptprs T C 17: 56,419,070 D998G probably damaging Het
Rasd2 C A 8: 75,221,975 N176K probably damaging Het
Serpinb3a A G 1: 107,046,330 F284L probably damaging Het
Skint6 T A 4: 113,171,533 probably null Het
Slc12a6 C T 2: 112,356,627 probably benign Het
Slc22a19 G A 19: 7,674,372 T490M probably benign Het
Sp2 A T 11: 96,955,832 C562S probably damaging Het
Specc1 A G 11: 62,118,957 E433G possibly damaging Het
Sspo C T 6: 48,452,280 Q451* probably null Het
St6galnac1 A T 11: 116,765,880 S478T probably damaging Het
Steap4 C T 5: 7,976,699 R221* probably null Het
Ugt1a5 C G 1: 88,166,241 R64G probably benign Het
Vmn1r202 A T 13: 22,502,205 F14Y probably damaging Het
Vmn2r79 T C 7: 87,037,340 V643A probably benign Het
Vmn2r91 C A 17: 18,110,060 Y535* probably null Het
Wdr3 A T 3: 100,141,620 probably benign Het
Wdr95 T C 5: 149,544,801 M41T probably benign Het
Other mutations in Miox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03070:Miox APN 15 89336084 missense possibly damaging 0.48
R0001:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0011:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0011:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0039:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0043:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0079:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0081:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0109:Miox UTSW 15 89335581 missense probably benign 0.17
R0109:Miox UTSW 15 89335581 missense probably benign 0.17
R0134:Miox UTSW 15 89334454 unclassified probably benign
R0166:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0172:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0173:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0225:Miox UTSW 15 89334454 unclassified probably benign
R0284:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0285:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0288:Miox UTSW 15 89336274 missense possibly damaging 0.48
R0681:Miox UTSW 15 89336274 missense possibly damaging 0.48
R1383:Miox UTSW 15 89335042 missense probably damaging 1.00
R4620:Miox UTSW 15 89336121 missense probably benign 0.43
R5110:Miox UTSW 15 89335556 missense probably benign
R5393:Miox UTSW 15 89336247 nonsense probably null
R6136:Miox UTSW 15 89335321 missense probably damaging 1.00
R6339:Miox UTSW 15 89335499 nonsense probably null
R7309:Miox UTSW 15 89336049 missense probably damaging 1.00
R7402:Miox UTSW 15 89335003 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATGCCAACTCTGATGGGGAG -3'
(R):5'- AAAGGGACATATGACCTAGAACCTG -3'

Sequencing Primer
(F):5'- TGATGGGGAGGCGCCTC -3'
(R):5'- AGGCTCTGCGCTGAAAG -3'
Posted On2016-05-10