Incidental Mutation 'IGL02116:Riok1'
ID 280389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Riok1
Ensembl Gene ENSMUSG00000021428
Gene Name RIO kinase 1
Synonyms 3110046C13Rik, 5430416A05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL02116
Quality Score
Status
Chromosome 13
Chromosomal Location 38220971-38245409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38243932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 486 (E486G)
Ref Sequence ENSEMBL: ENSMUSP00000021866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021866] [ENSMUST00000223656]
AlphaFold Q922Q2
Predicted Effect possibly damaging
Transcript: ENSMUST00000021866
AA Change: E486G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
AA Change: E486G

DomainStartEndE-ValueType
low complexity region 54 75 N/A INTRINSIC
RIO 150 386 5.1e-134 SMART
Blast:RIO 465 531 4e-12 BLAST
low complexity region 551 567 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226056
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the RIO family of atypical serine protein kinases. A similar protein in humans is a component of the protein arginine methyltransferase 5 complex that specifically recruits the RNA-binding protein nucleolin as a methylation substrate. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,981,018 (GRCm39) N190K possibly damaging Het
Adamts19 T C 18: 58,970,571 (GRCm39) S52P probably benign Het
Ahrr G T 13: 74,368,692 (GRCm39) H160Q possibly damaging Het
Ap4s1 T C 12: 51,769,833 (GRCm39) probably null Het
Atrn T C 2: 130,800,009 (GRCm39) V462A probably damaging Het
D630003M21Rik T C 2: 158,045,130 (GRCm39) S800G possibly damaging Het
Dach1 T G 14: 98,138,859 (GRCm39) N528T probably damaging Het
Foxl2 T C 9: 98,838,111 (GRCm39) M133T probably damaging Het
Grsf1 A G 5: 88,818,033 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,042,772 (GRCm39) I43T probably damaging Het
Helz2 T C 2: 180,873,978 (GRCm39) Y2172C probably damaging Het
Hey1 G T 3: 8,731,640 (GRCm39) probably null Het
Hnrnph3 A T 10: 62,851,855 (GRCm39) probably benign Het
Hps1 A T 19: 42,759,568 (GRCm39) Y81* probably null Het
Inhba A G 13: 16,201,557 (GRCm39) H373R probably benign Het
Leo1 T A 9: 75,356,697 (GRCm39) I359K probably damaging Het
Mcoln3 A G 3: 145,839,664 (GRCm39) N339D probably benign Het
Mrpl19 G A 6: 81,942,758 (GRCm39) P51S probably benign Het
Nadk C A 4: 155,663,763 (GRCm39) probably benign Het
Or5an11 A G 19: 12,246,374 (GRCm39) Y260C probably damaging Het
Or5d39 T A 2: 87,979,632 (GRCm39) T244S probably benign Het
Pappa2 T G 1: 158,672,695 (GRCm39) I1083L probably benign Het
R3hdm2 A G 10: 127,334,421 (GRCm39) D948G probably damaging Het
Rbm15 A T 3: 107,237,596 (GRCm39) L934Q probably damaging Het
Rec8 T A 14: 55,862,336 (GRCm39) probably null Het
Rptn A C 3: 93,302,404 (GRCm39) E40A possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 T C 1: 45,950,688 (GRCm39) T255A probably benign Het
Slc5a8 A T 10: 88,755,362 (GRCm39) M490L probably benign Het
Sned1 C A 1: 93,209,447 (GRCm39) C62* probably null Het
Sptbn4 T C 7: 27,063,782 (GRCm39) T2215A probably benign Het
Synpo T A 18: 60,736,528 (GRCm39) R234W probably damaging Het
Tmco3 A T 8: 13,342,706 (GRCm39) probably benign Het
Tmprss13 A G 9: 45,244,972 (GRCm39) D250G probably benign Het
Vmn2r31 T A 7: 7,397,548 (GRCm39) I237F probably damaging Het
Wdr90 A G 17: 26,078,466 (GRCm39) V306A probably benign Het
Zfp629 A G 7: 127,211,890 (GRCm39) W8R probably damaging Het
Zim1 T C 7: 6,681,253 (GRCm39) T137A probably benign Het
Other mutations in Riok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02675:Riok1 APN 13 38,234,219 (GRCm39) missense probably damaging 0.99
IGL02892:Riok1 APN 13 38,224,041 (GRCm39) splice site probably benign
IGL02952:Riok1 APN 13 38,232,866 (GRCm39) missense probably damaging 1.00
IGL03386:Riok1 APN 13 38,241,213 (GRCm39) nonsense probably null
IGL03054:Riok1 UTSW 13 38,231,291 (GRCm39) missense probably damaging 1.00
R0959:Riok1 UTSW 13 38,241,149 (GRCm39) missense probably damaging 0.96
R1423:Riok1 UTSW 13 38,233,090 (GRCm39) missense probably damaging 1.00
R1558:Riok1 UTSW 13 38,234,831 (GRCm39) missense probably damaging 1.00
R1624:Riok1 UTSW 13 38,221,487 (GRCm39) missense probably damaging 1.00
R1717:Riok1 UTSW 13 38,236,926 (GRCm39) missense probably damaging 1.00
R1858:Riok1 UTSW 13 38,242,694 (GRCm39) nonsense probably null
R1920:Riok1 UTSW 13 38,241,177 (GRCm39) missense probably benign 0.27
R2857:Riok1 UTSW 13 38,233,053 (GRCm39) missense probably damaging 1.00
R4179:Riok1 UTSW 13 38,232,931 (GRCm39) missense probably damaging 1.00
R7052:Riok1 UTSW 13 38,220,991 (GRCm39) unclassified probably benign
R7354:Riok1 UTSW 13 38,231,288 (GRCm39) missense probably benign 0.15
R7689:Riok1 UTSW 13 38,229,263 (GRCm39) missense probably damaging 1.00
R8207:Riok1 UTSW 13 38,236,296 (GRCm39) missense probably damaging 1.00
R8432:Riok1 UTSW 13 38,221,468 (GRCm39) missense probably benign 0.01
R9617:Riok1 UTSW 13 38,244,016 (GRCm39) missense probably benign
R9636:Riok1 UTSW 13 38,242,719 (GRCm39) critical splice donor site probably null
R9695:Riok1 UTSW 13 38,242,676 (GRCm39) missense possibly damaging 0.88
Z1176:Riok1 UTSW 13 38,242,699 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16