Incidental Mutation 'IGL02313:Riox2'
ID287877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Riox2
Ensembl Gene ENSMUSG00000022724
Gene Nameribosomal oxygenase 2
Synonyms3830408E23Rik, 1810047J07Rik, Mina, 2410057H13Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.682) question?
Stock #IGL02313
Quality Score
Status
Chromosome16
Chromosomal Location59471775-59492461 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 59489417 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 378 (P378Q)
Ref Sequence ENSEMBL: ENSMUSP00000125297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023407] [ENSMUST00000044604] [ENSMUST00000120674] [ENSMUST00000160571] [ENSMUST00000172910]
Predicted Effect probably benign
Transcript: ENSMUST00000023407
AA Change: P378Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023407
Gene: ENSMUSG00000022724
AA Change: P378Q

DomainStartEndE-ValueType
JmjC 127 273 1.33e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044604
SMART Domains Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723

DomainStartEndE-ValueType
low complexity region 258 273 N/A INTRINSIC
low complexity region 282 290 N/A INTRINSIC
XTALbg 430 516 2.78e-4 SMART
Pfam:Crystall 536 599 3.3e-7 PFAM
XTALbg 614 699 1.2e-21 SMART
XTALbg 707 790 5.73e-19 SMART
XTALbg 803 881 6.87e-5 SMART
XTALbg 889 969 1.28e-7 SMART
RICIN 972 1104 8.16e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120674
SMART Domains Protein: ENSMUSP00000112899
Gene: ENSMUSG00000022724

DomainStartEndE-ValueType
JmjC 127 273 1.33e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131272
Predicted Effect probably benign
Transcript: ENSMUST00000160571
AA Change: P378Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000125297
Gene: ENSMUSG00000022724
AA Change: P378Q

DomainStartEndE-ValueType
JmjC 127 273 1.33e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172910
Predicted Effect probably benign
Transcript: ENSMUST00000232544
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced allergic response to house dust mites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,947,934 N136K probably damaging Het
Aph1b A T 9: 66,790,673 probably benign Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Cxcr6 A G 9: 123,810,705 N264S probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam129c A G 8: 71,602,860 R305G possibly damaging Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fam49a A G 12: 12,364,751 T248A possibly damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Heatr6 T C 11: 83,778,892 L910P probably damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Krt31 A G 11: 100,048,396 Y232H probably damaging Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfn2 T A 4: 147,885,490 I375F probably damaging Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Riox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02580:Riox2 APN 16 59486573 missense probably benign 0.00
IGL03076:Riox2 APN 16 59491212 missense possibly damaging 0.68
R0009:Riox2 UTSW 16 59489367 missense probably benign 0.01
R0009:Riox2 UTSW 16 59489367 missense probably benign 0.01
R0322:Riox2 UTSW 16 59489389 nonsense probably null
R0592:Riox2 UTSW 16 59489579 unclassified probably benign
R0620:Riox2 UTSW 16 59491892 missense probably benign 0.20
R1588:Riox2 UTSW 16 59475583 missense possibly damaging 0.46
R1623:Riox2 UTSW 16 59483042 missense probably damaging 1.00
R2863:Riox2 UTSW 16 59489393 missense probably damaging 0.99
R4113:Riox2 UTSW 16 59491894 missense probably benign 0.01
R4468:Riox2 UTSW 16 59475994 intron probably benign
R4708:Riox2 UTSW 16 59475682 missense probably benign 0.00
R4739:Riox2 UTSW 16 59489369 missense probably benign
R5074:Riox2 UTSW 16 59491873 missense possibly damaging 0.59
R5385:Riox2 UTSW 16 59486616 missense probably benign 0.33
Posted On2015-04-16