Incidental Mutation 'IGL01886:Riok3'
ID 179149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Riok3
Ensembl Gene ENSMUSG00000024404
Gene Name RIO kinase 3
Synonyms Sudd, 1200013N13Rik, E130306C24Rik, D18Ertd331e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.377) question?
Stock # IGL01886
Quality Score
Status
Chromosome 18
Chromosomal Location 12128850-12157367 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12139385 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 204 (N204K)
Ref Sequence ENSEMBL: ENSMUSP00000025270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025270]
AlphaFold Q9DBU3
Predicted Effect probably damaging
Transcript: ENSMUST00000025270
AA Change: N204K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: N204K

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 V136M probably benign Het
Ankrd34c A T 9: 89,730,265 L8M possibly damaging Het
Anks6 C A 4: 47,044,850 W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clec7a A T 6: 129,463,177 probably benign Het
Cyp3a13 G A 5: 137,898,820 P411S probably damaging Het
Elavl2 A G 4: 91,264,093 V129A probably damaging Het
Ercc6 T A 14: 32,569,580 S994T possibly damaging Het
Esco1 T A 18: 10,595,262 K8I probably damaging Het
Esr1 T A 10: 4,856,861 I259K probably damaging Het
Filip1l A G 16: 57,571,250 I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Grin3a T A 4: 49,702,814 I891F probably damaging Het
Kat7 T C 11: 95,306,133 T27A probably benign Het
Kdm1a A G 4: 136,561,016 probably null Het
Kifc5b T C 17: 26,932,117 V663A probably damaging Het
Lama1 T G 17: 67,807,797 S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 V279I probably benign Het
Mast3 A T 8: 70,782,139 L774Q possibly damaging Het
Med27 C A 2: 29,413,482 P9Q probably damaging Het
Myo5a C A 9: 75,169,090 probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb T C 2: 52,183,845 probably benign Het
Nlrp1a T C 11: 71,123,501 T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 C124F probably damaging Het
Orc1 T A 4: 108,603,957 probably null Het
Pnkp G A 7: 44,862,207 A76T probably damaging Het
Polr3h T C 15: 81,917,390 E95G probably damaging Het
Prpf40b T A 15: 99,304,447 M62K unknown Het
Prpf8 C A 11: 75,495,744 Q1075K probably benign Het
Ptprg A G 14: 12,179,280 K766E probably benign Het
Rabgap1l A T 1: 160,342,042 N778K probably damaging Het
Shank3 A G 15: 89,531,663 K650E probably damaging Het
Sim1 T A 10: 50,984,315 S758T probably damaging Het
Slu7 T G 11: 43,439,260 N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 probably null Het
Taf6l C T 19: 8,778,086 probably null Het
Ubtfl1 G A 9: 18,409,721 V182M possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 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
IGL02553:Riok3 APN 18 12143016 nonsense probably null
IGL02622:Riok3 APN 18 12142960 missense probably benign 0.24
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
R9194:Riok3 UTSW 18 12149585 frame shift probably null
R9195:Riok3 UTSW 18 12149585 frame shift probably null
Posted On 2014-05-07