Incidental Mutation 'R0043:Miox'
ID15869
Institutional Source Beutler Lab
Gene Symbol Miox
Ensembl Gene ENSMUSG00000022613
Gene Namemyo-inositol oxygenase
SynonymsC85427, 0610009I10Rik, RSOR, Aldrl6
MMRRC Submission 038337-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.299) question?
Stock #R0043 (G1)
Quality Score
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: 81.2%
  • 3x: 72.1%
  • 10x: 49.9%
  • 20x: 30.2%
Validation Efficiency 90% (56/62)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T A 1: 26,683,802 I766F possibly damaging Het
Accs A G 2: 93,841,885 Y213H probably benign Het
Adcy9 A G 16: 4,289,015 L982P probably benign Het
Cntnap2 T A 6: 46,483,983 V651E probably benign Het
Cstf3 A T 2: 104,645,085 probably benign Het
Dnah1 T C 14: 31,274,405 D2658G probably damaging Het
Dsg4 T C 18: 20,452,972 S240P probably damaging Het
Dync2h1 C T 9: 7,005,574 M3765I probably benign Het
Fam160b2 A T 14: 70,588,661 S304T probably benign Het
Fbxw7 T C 3: 84,972,567 probably benign Het
Gata4 T C 14: 63,203,301 probably benign Het
Hyal1 T C 9: 107,579,320 L152P probably benign Het
Ifi207 T A 1: 173,729,112 T694S possibly damaging Het
Kalrn C A 16: 34,054,906 G99W probably damaging Het
Man1a2 A T 3: 100,587,880 W448R probably damaging Het
Mfsd6 A T 1: 52,708,652 Y351* probably null Het
Mki67 T C 7: 135,700,581 D908G probably benign Het
Nav3 A G 10: 109,767,518 S1057P possibly damaging Het
Rasgef1b T C 5: 99,243,194 Y102C probably damaging Het
Sbf1 A G 15: 89,295,561 V1281A probably benign Het
Sfmbt1 T A 14: 30,816,807 S794R probably damaging Het
Skint3 T A 4: 112,277,623 V331E probably damaging Het
Spata6 A T 4: 111,780,805 R277S probably damaging Het
Spink12 T C 18: 44,107,696 C50R probably damaging Het
Trappc11 A G 8: 47,505,575 probably benign Het
Ube2u G T 4: 100,482,829 V66F possibly damaging Het
Usp42 A C 5: 143,714,710 V1186G probably benign Het
Yme1l1 T C 2: 23,187,803 I419T probably 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
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
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
Posted On2013-01-08