Incidental Mutation 'R6396:Riox1'
ID 516011
Institutional Source Beutler Lab
Gene Symbol Riox1
Ensembl Gene ENSMUSG00000046791
Gene Name ribosomal oxygenase 1
Synonyms NO66, 2410016O06Rik
MMRRC Submission 044544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R6396 (G1)
Quality Score 163.009
Status Validated
Chromosome 12
Chromosomal Location 83997382-83999725 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83998087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 208 (D208N)
Ref Sequence ENSEMBL: ENSMUSP00000057984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053744] [ENSMUST00000164935]
AlphaFold Q9JJF3
Predicted Effect possibly damaging
Transcript: ENSMUST00000053744
AA Change: D208N

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057984
Gene: ENSMUSG00000046791
AA Change: D208N

DomainStartEndE-ValueType
low complexity region 15 22 N/A INTRINSIC
low complexity region 44 65 N/A INTRINSIC
JmjC 266 394 5.07e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164935
SMART Domains Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843

DomainStartEndE-ValueType
low complexity region 153 166 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
low complexity region 289 303 N/A INTRINSIC
low complexity region 533 548 N/A INTRINSIC
internal_repeat_1 577 711 2.78e-6 PROSPERO
Pfam:HEAT_2 776 890 1.8e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181399
SMART Domains Protein: ENSMUSP00000137697
Gene: ENSMUSG00000096953

DomainStartEndE-ValueType
low complexity region 1 19 N/A INTRINSIC
low complexity region 27 40 N/A INTRINSIC
low complexity region 47 60 N/A INTRINSIC
low complexity region 68 98 N/A INTRINSIC
low complexity region 117 161 N/A INTRINSIC
low complexity region 171 212 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223215
Meta Mutation Damage Score 0.0851 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
Validation Efficiency 100% (36/36)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele activated in mesenchyme exhibit increased body length and weight, increased ossification with increased bone mass, bone mineral density, and volume, increased osteoblasts; and decrease osteoclasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A T 7: 16,296,224 (GRCm39) I947K probably damaging Het
B3galnt2 A T 13: 14,170,333 (GRCm39) I447F probably damaging Het
Cacna2d3 C A 14: 29,118,522 (GRCm39) V134L probably benign Het
Clcn4 C T 7: 7,297,024 (GRCm39) G145S probably damaging Het
Cndp1 A T 18: 84,650,135 (GRCm39) M186K probably benign Het
Cntn6 A G 6: 104,627,461 (GRCm39) Y98C probably damaging Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dyrk1a C A 16: 94,472,299 (GRCm39) Q230K probably damaging Het
Ech1 C T 7: 28,529,763 (GRCm39) probably null Het
Fam81b T A 13: 76,399,968 (GRCm39) R97W probably damaging Het
Heatr1 A G 13: 12,420,978 (GRCm39) E423G possibly damaging Het
Hydin A T 8: 111,233,521 (GRCm39) K1786N probably damaging Het
Igf2r T C 17: 12,932,977 (GRCm39) I848M probably benign Het
Igkv10-96 G A 6: 68,608,969 (GRCm39) Q109* probably null Het
Mup6 T C 4: 60,004,837 (GRCm39) I76T possibly damaging Het
Nmt2 A G 2: 3,315,738 (GRCm39) R243G probably benign Het
Nsd1 G A 13: 55,386,602 (GRCm39) G119D probably damaging Het
Or1ad8 A G 11: 50,898,312 (GRCm39) H171R possibly damaging Het
Or4c113 A G 2: 88,885,641 (GRCm39) I43T probably benign Het
Or4c120 T G 2: 89,001,034 (GRCm39) D174A probably damaging Het
Or51ab3 C T 7: 103,201,888 (GRCm39) Q299* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pank3 T C 11: 35,669,516 (GRCm39) V250A probably damaging Het
Pcdh10 A G 3: 45,334,495 (GRCm39) I270V possibly damaging Het
Pnp2 T A 14: 51,200,616 (GRCm39) V94E probably damaging Het
Prdm10 T C 9: 31,229,842 (GRCm39) V86A possibly damaging Het
Resf1 A G 6: 149,229,417 (GRCm39) D821G probably damaging Het
Rrp15 A G 1: 186,469,783 (GRCm39) probably null Het
Skor1 G T 9: 63,052,232 (GRCm39) P579Q probably damaging Het
Slc44a4 T A 17: 35,147,860 (GRCm39) Y481* probably null Het
Smg7 A T 1: 152,724,351 (GRCm39) V610E probably benign Het
Tlx1 A G 19: 45,144,491 (GRCm39) Q71R probably damaging Het
Vmn2r27 A T 6: 124,201,125 (GRCm39) Y277* probably null Het
Zswim2 T A 2: 83,754,062 (GRCm39) R199S probably damaging Het
Other mutations in Riox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Riox1 APN 12 83,998,568 (GRCm39) missense probably damaging 1.00
R1968:Riox1 UTSW 12 83,998,156 (GRCm39) missense probably damaging 1.00
R2158:Riox1 UTSW 12 83,997,709 (GRCm39) missense probably benign 0.00
R2395:Riox1 UTSW 12 83,997,418 (GRCm39) start gained probably null
R5691:Riox1 UTSW 12 83,998,466 (GRCm39) missense possibly damaging 0.54
R6968:Riox1 UTSW 12 83,998,147 (GRCm39) missense probably damaging 0.98
R7322:Riox1 UTSW 12 83,997,442 (GRCm39) unclassified probably benign
R7520:Riox1 UTSW 12 83,998,545 (GRCm39) nonsense probably null
R9133:Riox1 UTSW 12 83,998,221 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGTACTGACGGAGCTGAAC -3'
(R):5'- TTCCAGTACCGTTTGCAGCAC -3'

Sequencing Primer
(F):5'- TGACGGAGCTGAACGGCATC -3'
(R):5'- GACTAGATGTCAGGGCCAACTC -3'
Posted On 2018-05-04