Incidental Mutation 'R2395:Riox1'
ID 248501
Institutional Source Beutler Lab
Gene Symbol Riox1
Ensembl Gene ENSMUSG00000046791
Gene Name ribosomal oxygenase 1
Synonyms NO66, 2410016O06Rik
MMRRC Submission 040363-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R2395 (G1)
Quality Score 222
Status Validated
Chromosome 12
Chromosomal Location 83997382-83999725 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to T at 83997418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000057984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053744] [ENSMUST00000164935]
AlphaFold Q9JJF3
Predicted Effect probably null
Transcript: ENSMUST00000053744
SMART Domains Protein: ENSMUSP00000057984
Gene: ENSMUSG00000046791

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (30/30)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,959,614 (GRCm39) Y707H probably damaging Het
Abcc3 A G 11: 94,248,132 (GRCm39) V1156A possibly damaging Het
Acsl3 T C 1: 78,683,085 (GRCm39) V661A probably benign Het
Atosb C A 4: 43,035,964 (GRCm39) E256* probably null Het
B3glct A G 5: 149,677,651 (GRCm39) T427A probably damaging Het
Cblc C A 7: 19,519,305 (GRCm39) C341F probably damaging Het
Cntn2 T C 1: 132,454,110 (GRCm39) S299G probably benign Het
Dcp1b T C 6: 119,192,025 (GRCm39) S314P probably benign Het
Dnah6 T C 6: 73,068,950 (GRCm39) probably null Het
Fmn1 A G 2: 113,195,526 (GRCm39) T409A unknown Het
Hltf C T 3: 20,146,906 (GRCm39) A555V probably benign Het
Kmt2c T C 5: 25,520,150 (GRCm39) I1987V probably benign Het
Map3k10 T C 7: 27,373,418 (GRCm39) E11G unknown Het
Micu1 G T 10: 59,699,024 (GRCm39) E434* probably null Het
Mlph A G 1: 90,861,228 (GRCm39) T288A probably benign Het
Myh13 A G 11: 67,255,748 (GRCm39) E1679G probably benign Het
Myh15 A G 16: 48,889,877 (GRCm39) N156S probably benign Het
Nab1 A G 1: 52,529,741 (GRCm39) I52T probably damaging Het
Naip1 T C 13: 100,559,614 (GRCm39) H1130R possibly damaging Het
Or10al2 T G 17: 37,983,587 (GRCm39) Y224* probably null Het
Or8k23 A G 2: 86,186,609 (GRCm39) V39A probably benign Het
P2rx2 A G 5: 110,489,527 (GRCm39) Y136H probably damaging Het
Phf8-ps T C 17: 33,284,936 (GRCm39) E622G probably benign Het
Prss40 A G 1: 34,598,986 (GRCm39) V59A possibly damaging Het
Rxrb T G 17: 34,256,412 (GRCm39) C384W probably damaging Het
Srebf2 C T 15: 82,076,456 (GRCm39) T702I probably benign Het
Tmprss5 T A 9: 49,026,435 (GRCm39) L373* probably null Het
Trpm2 A C 10: 77,783,714 (GRCm39) I253S possibly damaging Het
Ush2a C T 1: 188,679,237 (GRCm39) T4815I probably damaging Het
Vmn2r73 A T 7: 85,506,975 (GRCm39) M779K 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
R5691:Riox1 UTSW 12 83,998,466 (GRCm39) missense possibly damaging 0.54
R6396:Riox1 UTSW 12 83,998,087 (GRCm39) missense possibly damaging 0.88
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'- TTTTGAAATGCCTCGTGCC -3'
(R):5'- TTCAGCTCCGTCAGTACCTG -3'

Sequencing Primer
(F):5'- GTGCCTTCTTTTCTTACACGGAG -3'
(R):5'- GCCACTTTCGAGTCCGAGTC -3'
Posted On 2014-11-11