Incidental Mutation 'IGL02952:Riok1'
ID 364973
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 # IGL02952
Quality Score
Status
Chromosome 13
Chromosomal Location 38220971-38245409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38232866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 194 (Y194C)
Ref Sequence ENSEMBL: ENSMUSP00000021866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021866] [ENSMUST00000223656] [ENSMUST00000224477] [ENSMUST00000226110]
AlphaFold Q922Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000021866
AA Change: Y194C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
AA Change: Y194C

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: ENSMUST00000223910
Predicted Effect probably benign
Transcript: ENSMUST00000224477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224683
Predicted Effect unknown
Transcript: ENSMUST00000224956
AA Change: Y138C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226006
Predicted Effect probably benign
Transcript: ENSMUST00000226110
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,654,984 (GRCm39) D1436V probably damaging Het
Abca7 G T 10: 79,843,242 (GRCm39) R1239L probably damaging Het
Acp2 T C 2: 91,038,788 (GRCm39) probably benign Het
Adamts4 A G 1: 171,078,917 (GRCm39) N179S probably damaging Het
Adgrv1 T C 13: 81,581,755 (GRCm39) D4763G probably benign Het
Atp11b T C 3: 35,882,844 (GRCm39) V633A probably damaging Het
Cadm2 A T 16: 66,461,338 (GRCm39) I342K probably damaging Het
Capn10 T C 1: 92,872,896 (GRCm39) S541P probably damaging Het
Ccnf A G 17: 24,450,299 (GRCm39) L462P possibly damaging Het
Cdc27 T C 11: 104,408,290 (GRCm39) Y546C probably damaging Het
Cep120 G T 18: 53,816,300 (GRCm39) probably benign Het
Cetn2 T C X: 71,957,808 (GRCm39) probably null Het
Cyp1a1 C T 9: 57,609,993 (GRCm39) S469L probably benign Het
Dnah17 G A 11: 117,979,094 (GRCm39) T1766I probably benign Het
Doc2g G A 19: 4,056,719 (GRCm39) G345D possibly damaging Het
Dock4 T C 12: 40,760,902 (GRCm39) probably null Het
Dop1a T A 9: 86,414,975 (GRCm39) probably benign Het
Emilin2 C A 17: 71,587,816 (GRCm39) V99F probably damaging Het
Exoc8 A G 8: 125,624,275 (GRCm39) S31P probably benign Het
Gask1b T C 3: 79,793,646 (GRCm39) L38P probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Gm9742 T A 13: 8,079,930 (GRCm39) noncoding transcript Het
Gpr160 T C 3: 30,950,443 (GRCm39) Y172H probably benign Het
Ifnk T A 4: 35,152,495 (GRCm39) L141Q probably damaging Het
Klhl36 A G 8: 120,597,223 (GRCm39) E308G probably benign Het
Lrp1b T C 2: 41,396,715 (GRCm39) I450M probably benign Het
Noxa1 T C 2: 24,981,773 (GRCm39) Y110C probably damaging Het
Or10ad1 T C 15: 98,105,470 (GRCm39) Y265C probably damaging Het
Pkd2 A T 5: 104,628,026 (GRCm39) T367S possibly damaging Het
Polg2 T C 11: 106,663,539 (GRCm39) I385V possibly damaging Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Prr14l A G 5: 32,993,014 (GRCm39) S17P unknown Het
Prss22 C A 17: 24,215,697 (GRCm39) C75F probably damaging Het
Ptgs1 A G 2: 36,141,253 (GRCm39) K567E probably benign Het
Ptprz1 A G 6: 23,036,925 (GRCm39) I1141M probably damaging Het
R3hcc1l A G 19: 42,552,433 (GRCm39) K477E probably damaging Het
Smr2 T A 5: 88,236,095 (GRCm39) C16S possibly damaging Het
Stk25 A T 1: 93,553,798 (GRCm39) I187N probably damaging Het
Trhde T C 10: 114,636,478 (GRCm39) E243G probably damaging Het
Vmn2r3 T C 3: 64,186,256 (GRCm39) E143G probably damaging Het
Other mutations in Riok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Riok1 APN 13 38,243,932 (GRCm39) missense possibly damaging 0.80
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
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 2015-12-18