Incidental Mutation 'R0288:Miox'
ID65359
Institutional Source Beutler Lab
Gene Symbol Miox
Ensembl Gene ENSMUSG00000022613
Gene Namemyo-inositol oxygenase
SynonymsC85427, 0610009I10Rik, RSOR, Aldrl6
MMRRC Submission 038507-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.211) question?
Stock #R0288 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location89334398-89337015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 89336274 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 189 (L189F)
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 possibly damaging
Transcript: ENSMUST00000023282
AA Change: L189F

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023282
Gene: ENSMUSG00000022613
AA Change: L189F

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 0.5379 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.7%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,039,940 E413G possibly damaging Het
Amigo2 G T 15: 97,245,679 N287K probably damaging Het
Ankle2 T A 5: 110,236,390 I260K probably damaging Het
Apob C T 12: 7,990,779 R635* probably null Het
Camkv A G 9: 107,946,356 Y153C probably damaging Het
Capn9 A G 8: 124,600,491 probably benign Het
Ces2c A G 8: 104,849,744 I130V probably benign Het
Cfap44 T A 16: 44,415,894 probably benign Het
Cfhr3 A G 1: 139,597,687 noncoding transcript Het
Chmp1a G T 8: 123,208,006 D70E probably damaging Het
Coil G A 11: 88,981,868 G352R probably damaging Het
Colq T C 14: 31,543,992 E188G possibly damaging Het
Cyfip2 A G 11: 46,253,972 F685S possibly damaging Het
Cyp4f39 A G 17: 32,492,436 N519S probably benign Het
Dennd1c A T 17: 57,076,870 probably null Het
Dnah9 A T 11: 66,025,134 probably null Het
Dnmbp T C 19: 43,902,459 T290A possibly damaging Het
Dsc2 T C 18: 20,033,120 D818G probably damaging Het
Gnptab G A 10: 88,433,105 V557I probably benign Het
Hdac4 A T 1: 91,971,006 H675Q probably damaging Het
Kcnk3 T C 5: 30,588,420 M35T probably benign Het
Kif1b A T 4: 149,199,338 I1290N probably damaging Het
Klhl14 G A 18: 21,565,563 R398W probably damaging Het
Marveld1 T C 19: 42,147,826 F60L probably damaging Het
Ncoa6 TGC TGCGC 2: 155,408,291 probably null Het
Ndst3 A T 3: 123,672,194 V43D probably benign Het
Nhsl1 A G 10: 18,524,046 D306G probably damaging Het
Nlrp2 A G 7: 5,328,545 V284A probably benign Het
Pcdhb15 T C 18: 37,475,398 V561A probably damaging Het
Pdcl2 T C 5: 76,312,497 I177V possibly damaging Het
Pkd1l3 G A 8: 109,646,499 probably null Het
Pla2g6 A C 15: 79,286,906 probably benign Het
Plekhj1 A T 10: 80,796,610 I122N probably damaging Het
Pmel T C 10: 128,714,306 I70T probably benign Het
Psip1 T C 4: 83,464,959 D273G probably damaging Het
Rictor A G 15: 6,786,540 I1098V probably benign Het
Rif1 T C 2: 52,110,013 S1160P probably damaging Het
Rsbn1l T C 5: 20,920,040 I255V probably damaging Het
Slc15a5 A G 6: 138,017,916 probably benign Het
Slc29a1 G A 17: 45,589,804 R111W probably damaging Het
Slc36a1 G A 11: 55,219,087 A74T probably damaging Het
Slc5a7 A T 17: 54,293,018 Y122* probably null Het
Slc6a3 G T 13: 73,560,928 G324W probably damaging Het
Sltm T C 9: 70,579,351 S433P probably damaging Het
Spta1 T C 1: 174,243,179 S2190P probably damaging Het
Sry A T Y: 2,662,818 F281I unknown Het
Stk32a T A 18: 43,304,995 probably null Het
Sytl2 T C 7: 90,403,020 probably benign Het
Tbl3 G A 17: 24,701,807 H612Y probably damaging Het
Tmem144 G A 3: 79,839,273 probably benign Het
Top2a A G 11: 99,016,423 probably benign Het
Usp9y A T Y: 1,333,606 probably benign Het
Vldlr G A 19: 27,240,651 probably benign Het
Vmn1r28 G A 6: 58,265,717 A182T probably benign Het
Vmn2r28 A G 7: 5,488,021 L409P probably damaging Het
Vps13c T C 9: 67,927,366 V1659A probably damaging Het
Wdr17 C T 8: 54,693,096 A90T possibly damaging Het
Zfp280d A T 9: 72,331,339 K646* probably null Het
Zfp36 A G 7: 28,378,241 S81P probably benign Het
Zfp618 A T 4: 63,132,934 T651S possibly damaging 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
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
R5016:Miox UTSW 15 89335564 missense probably null 1.00
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
R7891:Miox UTSW 15 89336539 missense probably benign 0.10
R7913:Miox UTSW 15 89336582 missense probably damaging 0.99
R7974:Miox UTSW 15 89336539 missense probably benign 0.10
R7994:Miox UTSW 15 89336582 missense probably damaging 0.99
Z1177:Miox UTSW 15 89335644 missense probably damaging 1.00
Predicted Primers
Posted On2013-08-08