Incidental Mutation 'IGL01141:Riox1'
ID 52504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Riox1
Ensembl Gene ENSMUSG00000046791
Gene Name ribosomal oxygenase 1
Synonyms NO66, 2410016O06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # IGL01141
Quality Score
Status
Chromosome 12
Chromosomal Location 83997382-83999725 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83998568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 368 (Q368R)
Ref Sequence ENSEMBL: ENSMUSP00000057984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053744] [ENSMUST00000164935]
AlphaFold Q9JJF3
Predicted Effect probably damaging
Transcript: ENSMUST00000053744
AA Change: Q368R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057984
Gene: ENSMUSG00000046791
AA Change: Q368R

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
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,828,556 (GRCm39) D1447E probably damaging Het
Atp2a3 T C 11: 72,873,491 (GRCm39) I788T probably damaging Het
Axin1 G A 17: 26,409,015 (GRCm39) E672K probably damaging Het
Ccno A G 13: 113,125,561 (GRCm39) D175G probably damaging Het
Cep83 C A 10: 94,624,619 (GRCm39) T632K probably benign Het
Ckmt1 A T 2: 121,193,474 (GRCm39) I345F probably benign Het
Cntnap1 G A 11: 101,069,633 (GRCm39) probably benign Het
Cstdc3 A G 16: 36,128,426 (GRCm39) E7G probably benign Het
Edem2 A G 2: 155,550,948 (GRCm39) Y340H probably benign Het
Erich3 A G 3: 154,419,653 (GRCm39) K249R probably benign Het
Fndc9 T C 11: 46,128,526 (GRCm39) I15T probably benign Het
Grip2 G T 6: 91,759,878 (GRCm39) Q300K probably benign Het
Herc2 T C 7: 55,862,589 (GRCm39) V4050A possibly damaging Het
Jup A T 11: 100,277,075 (GRCm39) D44E probably benign Het
Lingo3 G T 10: 80,671,147 (GRCm39) P261Q probably damaging Het
Lrrfip2 C T 9: 111,048,783 (GRCm39) R311W probably damaging Het
Mansc1 C A 6: 134,598,748 (GRCm39) L56F probably benign Het
Map1b A G 13: 99,571,269 (GRCm39) I484T probably damaging Het
Mpeg1 T A 19: 12,440,149 (GRCm39) F536I probably damaging Het
Mrgprb1 T G 7: 48,097,775 (GRCm39) T46P probably benign Het
Mug1 A G 6: 121,847,458 (GRCm39) N612S probably benign Het
Or5p56 T C 7: 107,589,758 (GRCm39) F62S probably damaging Het
Or6c212 T A 10: 129,558,814 (GRCm39) I200L probably benign Het
Pax8 A G 2: 24,331,162 (GRCm39) S178P probably damaging Het
Peak1 A G 9: 56,165,811 (GRCm39) F706L probably benign Het
Prkdc A G 16: 15,544,568 (GRCm39) T1853A probably damaging Het
Reln A C 5: 22,174,031 (GRCm39) F2024C probably damaging Het
Reln G T 5: 22,124,067 (GRCm39) P2813Q probably damaging Het
Rspry1 T C 8: 95,376,483 (GRCm39) V335A probably benign Het
Scn3a T C 2: 65,325,457 (GRCm39) N1020S possibly damaging Het
Scyl2 A G 10: 89,476,497 (GRCm39) V876A probably benign Het
Sdhaf3 T A 6: 6,956,141 (GRCm39) F39I probably damaging Het
Sfxn4 T C 19: 60,839,452 (GRCm39) E202G possibly damaging Het
Slc1a4 A T 11: 20,258,644 (GRCm39) probably benign Het
Sln A G 9: 53,760,784 (GRCm39) I10V probably benign Het
Ssh2 A G 11: 77,340,552 (GRCm39) E568G probably damaging Het
Supt7l G A 5: 31,675,779 (GRCm39) P270S probably benign Het
Tanc2 A G 11: 105,777,300 (GRCm39) probably benign Het
Tatdn1 A T 15: 58,781,416 (GRCm39) probably benign Het
Tfip11 C T 5: 112,477,369 (GRCm39) P117L possibly damaging Het
Vpreb1a T C 16: 16,686,951 (GRCm39) M9V probably benign Het
Other mutations in Riox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21