Incidental Mutation 'R5449:Riok3'
ID 429242
Institutional Source Beutler Lab
Gene Symbol Riok3
Ensembl Gene ENSMUSG00000024404
Gene Name RIO kinase 3
Synonyms 1200013N13Rik, E130306C24Rik, D18Ertd331e, Sudd
MMRRC Submission 043014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R5449 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 12261798-12290444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12288303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 493 (E493D)
Ref Sequence ENSEMBL: ENSMUSP00000025270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025270]
AlphaFold Q9DBU3
Predicted Effect probably damaging
Transcript: ENSMUST00000025270
AA Change: E493D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: E493D

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,123,579 (GRCm39) I98F probably benign Het
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A630010A05Rik A G 16: 14,436,537 (GRCm39) K197E possibly damaging Het
Agrn A G 4: 156,251,737 (GRCm39) probably null Het
Atad5 A G 11: 80,014,934 (GRCm39) I1337V probably damaging Het
Cd44 T C 2: 102,662,891 (GRCm39) T550A probably damaging Het
Cdk5rap2 A C 4: 70,194,888 (GRCm39) L952V probably benign Het
Cep104 T A 4: 154,069,762 (GRCm39) probably null Het
Cfl1 A G 19: 5,543,521 (GRCm39) *167W probably null Het
Col22a1 T C 15: 71,693,798 (GRCm39) D734G unknown Het
Cry1 G A 10: 84,968,999 (GRCm39) L581F probably benign Het
Dmpk A G 7: 18,824,916 (GRCm39) D406G probably benign Het
Faah T C 4: 115,856,692 (GRCm39) probably null Het
Fchsd2 T C 7: 100,926,731 (GRCm39) F607S probably damaging Het
Fga CAAAG CAAAGAAAG 3: 82,938,169 (GRCm39) probably null Het
Hdac5 G A 11: 102,086,923 (GRCm39) Q46* probably null Het
Hltf A G 3: 20,123,247 (GRCm39) T212A possibly damaging Het
Ilvbl G A 10: 78,412,862 (GRCm39) probably null Het
Ldhc T C 7: 46,519,082 (GRCm39) S102P possibly damaging Het
Med12l T C 3: 59,167,127 (GRCm39) V1529A probably damaging Het
Nlrp9a A G 7: 26,257,254 (GRCm39) I202V probably benign Het
Nscme3l G A 19: 5,553,292 (GRCm39) T163M probably benign Het
Pdc A C 1: 150,209,190 (GRCm39) L224F probably damaging Het
Pgr T C 9: 8,956,344 (GRCm39) V764A possibly damaging Het
Plxna1 T C 6: 89,300,590 (GRCm39) D1578G probably damaging Het
Prpf40a G T 2: 53,046,938 (GRCm39) T266N possibly damaging Het
Ptrh1 A G 2: 32,666,358 (GRCm39) S37G probably damaging Het
Rgs9 T C 11: 109,116,570 (GRCm39) D411G probably benign Het
Rnf213 T C 11: 119,305,902 (GRCm39) M570T probably benign Het
Scamp2 A G 9: 57,488,154 (GRCm39) D187G probably damaging Het
Scn1a T A 2: 66,151,346 (GRCm39) I819F probably damaging Het
Slc7a5 C A 8: 122,613,087 (GRCm39) W330C probably damaging Het
Syn3 A T 10: 86,187,434 (GRCm39) F230Y probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Tro T C X: 149,428,966 (GRCm39) probably benign Het
Ubr1 T A 2: 120,793,981 (GRCm39) M68L probably benign Het
Vmn1r120 A C 7: 20,787,074 (GRCm39) H212Q possibly damaging Het
Vmn1r46 T C 6: 89,953,343 (GRCm39) V64A probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp384 T C 6: 125,001,101 (GRCm39) S58P probably damaging Het
Other mutations in Riok3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Riok3 APN 18 12,281,948 (GRCm39) missense possibly damaging 0.81
IGL00229:Riok3 APN 18 12,270,077 (GRCm39) missense probably damaging 1.00
IGL00434:Riok3 APN 18 12,281,904 (GRCm39) missense probably damaging 1.00
IGL01348:Riok3 APN 18 12,286,020 (GRCm39) splice site probably benign
IGL01886:Riok3 APN 18 12,272,442 (GRCm39) missense probably damaging 1.00
IGL02553:Riok3 APN 18 12,276,073 (GRCm39) nonsense probably null
IGL02622:Riok3 APN 18 12,276,017 (GRCm39) missense probably benign 0.24
IGL02718:Riok3 APN 18 12,286,053 (GRCm39) nonsense probably null
LCD18:Riok3 UTSW 18 12,263,039 (GRCm39) intron probably benign
R0240:Riok3 UTSW 18 12,288,284 (GRCm39) missense probably benign 0.37
R0359:Riok3 UTSW 18 12,282,006 (GRCm39) missense probably damaging 1.00
R1505:Riok3 UTSW 18 12,285,935 (GRCm39) missense probably benign 0.06
R1519:Riok3 UTSW 18 12,270,363 (GRCm39) missense probably damaging 1.00
R1698:Riok3 UTSW 18 12,261,986 (GRCm39) missense probably benign 0.02
R1710:Riok3 UTSW 18 12,276,018 (GRCm39) missense probably benign 0.24
R1965:Riok3 UTSW 18 12,270,019 (GRCm39) missense probably damaging 0.99
R2351:Riok3 UTSW 18 12,282,724 (GRCm39) nonsense probably null
R3705:Riok3 UTSW 18 12,282,011 (GRCm39) missense probably benign 0.07
R3914:Riok3 UTSW 18 12,281,879 (GRCm39) missense probably benign
R3956:Riok3 UTSW 18 12,276,031 (GRCm39) nonsense probably null
R4272:Riok3 UTSW 18 12,268,998 (GRCm39) small deletion probably benign
R4273:Riok3 UTSW 18 12,268,998 (GRCm39) small deletion probably benign
R4564:Riok3 UTSW 18 12,281,936 (GRCm39) missense probably damaging 0.99
R4589:Riok3 UTSW 18 12,269,844 (GRCm39) missense probably benign 0.06
R4729:Riok3 UTSW 18 12,261,984 (GRCm39) missense possibly damaging 0.82
R4751:Riok3 UTSW 18 12,287,040 (GRCm39) missense probably benign 0.00
R4938:Riok3 UTSW 18 12,288,300 (GRCm39) missense probably benign 0.06
R4945:Riok3 UTSW 18 12,261,972 (GRCm39) missense probably damaging 0.96
R5928:Riok3 UTSW 18 12,286,075 (GRCm39) missense probably benign 0.16
R6220:Riok3 UTSW 18 12,282,608 (GRCm39) missense probably damaging 0.97
R7962:Riok3 UTSW 18 12,269,776 (GRCm39) missense probably benign
R8422:Riok3 UTSW 18 12,269,869 (GRCm39) missense probably null 1.00
R9194:Riok3 UTSW 18 12,282,642 (GRCm39) frame shift probably null
R9195:Riok3 UTSW 18 12,282,642 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GTGCACATCTGTCACATGCAAAC -3'
(R):5'- ATTGCACACATCTGGCACG -3'

Sequencing Primer
(F):5'- TCTGTCACATGCAAACAGAGTATGG -3'
(R):5'- ATCTGGCACGTGGGTCACAAG -3'
Posted On 2016-09-06