Incidental Mutation 'IGL02622:Riok3'
ID300916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Riok3
Ensembl Gene ENSMUSG00000024404
Gene NameRIO kinase 3
SynonymsSudd, 1200013N13Rik, E130306C24Rik, D18Ertd331e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.282) question?
Stock #IGL02622
Quality Score
Status
Chromosome18
Chromosomal Location12128850-12157367 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 12142960 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 238 (R238C)
Ref Sequence ENSEMBL: ENSMUSP00000025270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025270]
Predicted Effect probably benign
Transcript: ENSMUST00000025270
AA Change: R238C

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: R238C

DomainStartEndE-ValueType
low complexity region 41 63 N/A INTRINSIC
low complexity region 123 131 N/A INTRINSIC
RIO 222 470 9.88e-141 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,739,235 V32M possibly damaging Het
Abca1 T C 4: 53,034,046 D2228G probably damaging Het
Actr5 A G 2: 158,638,808 K582R probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Atp7b T C 8: 22,028,438 D128G possibly damaging Het
Cemip C A 7: 83,964,175 G605V probably damaging Het
Cep112 A G 11: 108,518,683 H133R probably benign Het
Cops3 C T 11: 59,833,038 D98N probably benign Het
Crlf3 T C 11: 80,059,324 D160G probably damaging Het
Csn1s1 T C 5: 87,677,642 probably null Het
Ddx60 C A 8: 61,942,436 probably null Het
Depdc1a T A 3: 159,515,510 N159K probably benign Het
Dsg3 A T 18: 20,528,947 probably benign Het
Eif4g3 A C 4: 138,097,366 probably benign Het
Ercc6l2 T A 13: 63,853,623 probably null Het
Fbxw19 T A 9: 109,493,534 M123L probably benign Het
Fus T A 7: 127,985,622 L100H probably damaging Het
Gm29247 A G 1: 44,107,109 probably benign Het
Gucy2e T C 11: 69,225,031 T842A probably damaging Het
Inpp4a A T 1: 37,379,034 Q519L probably benign Het
Kcnip1 C A 11: 33,643,290 probably benign Het
Lyst T A 13: 13,681,390 L2432H probably damaging Het
Mastl A G 2: 23,132,845 V622A probably benign Het
Myh15 A G 16: 49,176,954 T1712A probably benign Het
Nlrp1a T C 11: 71,123,000 T475A possibly damaging Het
Nr4a3 G A 4: 48,051,649 M134I probably benign Het
Olfr444 T G 6: 42,955,729 V77G probably damaging Het
Olfr484 T A 7: 108,124,388 I292F probably damaging Het
Olfr554 T A 7: 102,641,083 L279Q probably damaging Het
Paqr6 T G 3: 88,365,778 I52S probably damaging Het
Pcdhb4 T A 18: 37,309,668 L677Q probably benign Het
Phax C T 18: 56,584,300 R250* probably null Het
Pkn3 A G 2: 30,083,146 D356G probably benign Het
Pnpla2 T C 7: 141,455,372 L29P probably damaging Het
Rad18 G A 6: 112,687,987 T62I probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sccpdh G T 1: 179,676,460 G125W probably damaging Het
Skint11 T A 4: 114,194,728 L91H probably damaging Het
Slc25a45 A G 19: 5,878,697 probably benign Het
Slco2a1 C T 9: 103,076,929 Q370* probably null Het
Szt2 A G 4: 118,392,890 S474P probably damaging Het
Tchh C A 3: 93,443,412 T53K probably damaging Het
Tiam1 T C 16: 89,798,700 T1298A possibly damaging Het
Tmem161a C T 8: 70,181,237 Q183* probably null Het
Trim26 C A 17: 36,850,905 A72E probably damaging Het
Trmt11 A T 10: 30,559,173 I330K probably benign Het
Tspan1 A G 4: 116,163,855 probably benign Het
Ubr4 C A 4: 139,467,250 C4286* probably null Het
Unc13a T C 8: 71,652,514 probably null Het
Vmn1r20 T A 6: 57,432,598 F303Y probably damaging Het
Washc2 T C 6: 116,214,018 probably benign Het
Xab2 C T 8: 3,611,699 D585N probably benign Het
Ythdc2 C T 18: 44,859,934 L791F probably damaging Het
Zfp319 C A 8: 95,328,961 V205F probably damaging Het
Zscan25 A T 5: 145,290,702 H392L probably damaging Het
Zswim6 A T 13: 107,748,251 noncoding transcript Het
Other mutations in Riok3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Riok3 APN 18 12148891 missense possibly damaging 0.81
IGL00229:Riok3 APN 18 12137020 missense probably damaging 1.00
IGL00434:Riok3 APN 18 12148847 missense probably damaging 1.00
IGL01348:Riok3 APN 18 12152963 splice site probably benign
IGL01886:Riok3 APN 18 12139385 missense probably damaging 1.00
IGL02553:Riok3 APN 18 12143016 nonsense probably null
IGL02718:Riok3 APN 18 12152996 nonsense probably null
LCD18:Riok3 UTSW 18 12129982 intron probably benign
R0240:Riok3 UTSW 18 12155227 missense probably benign 0.37
R0359:Riok3 UTSW 18 12148949 missense probably damaging 1.00
R1505:Riok3 UTSW 18 12152878 missense probably benign 0.06
R1519:Riok3 UTSW 18 12137306 missense probably damaging 1.00
R1698:Riok3 UTSW 18 12128929 missense probably benign 0.02
R1710:Riok3 UTSW 18 12142961 missense probably benign 0.24
R1965:Riok3 UTSW 18 12136962 missense probably damaging 0.99
R2351:Riok3 UTSW 18 12149667 nonsense probably null
R3705:Riok3 UTSW 18 12148954 missense probably benign 0.07
R3914:Riok3 UTSW 18 12148822 missense probably benign
R3956:Riok3 UTSW 18 12142974 nonsense probably null
R4272:Riok3 UTSW 18 12135941 small deletion probably benign
R4273:Riok3 UTSW 18 12135941 small deletion probably benign
R4564:Riok3 UTSW 18 12148879 missense probably damaging 0.99
R4589:Riok3 UTSW 18 12136787 missense probably benign 0.06
R4729:Riok3 UTSW 18 12128927 missense possibly damaging 0.82
R4751:Riok3 UTSW 18 12153983 missense probably benign 0.00
R4938:Riok3 UTSW 18 12155243 missense probably benign 0.06
R4945:Riok3 UTSW 18 12128915 missense probably damaging 0.96
R5449:Riok3 UTSW 18 12155246 missense probably damaging 0.97
R5928:Riok3 UTSW 18 12153018 missense probably benign 0.16
R6220:Riok3 UTSW 18 12149551 missense probably damaging 0.97
R7962:Riok3 UTSW 18 12136719 missense probably benign
R8422:Riok3 UTSW 18 12136812 missense probably null 1.00
Posted On2015-04-16