Incidental Mutation 'R2857:Riok1'
ID 252515
Institutional Source Beutler Lab
Gene Symbol Riok1
Ensembl Gene ENSMUSG00000021428
Gene Name RIO kinase 1
Synonyms 3110046C13Rik, 5430416A05Rik
MMRRC Submission 040447-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R2857 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 38220971-38245409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38233053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 229 (F229L)
Ref Sequence ENSEMBL: ENSMUSP00000021866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021866] [ENSMUST00000223656] [ENSMUST00000224477]
AlphaFold Q922Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000021866
AA Change: F229L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
AA Change: F229L

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: F173L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226006
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330087D11Rik A T 7: 29,273,303 (GRCm39) noncoding transcript Het
Amfr A T 8: 94,731,842 (GRCm39) N11K probably damaging Het
Bpifa6 G A 2: 153,831,194 (GRCm39) M253I probably benign Het
C330018D20Rik A G 18: 57,095,531 (GRCm39) L18P probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh23 C T 10: 60,218,432 (GRCm39) probably null Het
Ceacam1 T A 7: 25,173,442 (GRCm39) I249F probably damaging Het
Cfap54 C T 10: 92,881,144 (GRCm39) R348Q probably damaging Het
Cfap91 A C 16: 38,123,075 (GRCm39) L651R probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cuzd1 C T 7: 130,917,863 (GRCm39) V246M probably damaging Het
Ehd2 A T 7: 15,698,054 (GRCm39) V61E probably damaging Het
Erich5 C T 15: 34,471,560 (GRCm39) T263I probably damaging Het
Fbxo36 A G 1: 84,874,316 (GRCm39) K104R probably benign Het
Fibin C T 2: 110,192,542 (GRCm39) R200H probably damaging Het
Gad2 A C 2: 22,563,987 (GRCm39) M397L probably benign Het
Garin3 T C 11: 46,296,039 (GRCm39) I137T probably damaging Het
Iqgap3 C A 3: 88,014,903 (GRCm39) S873* probably null Het
Kcnh8 A G 17: 53,284,961 (GRCm39) D977G probably benign Het
Mau2 T C 8: 70,472,474 (GRCm39) M570V probably benign Het
Mrgprb4 T A 7: 47,848,084 (GRCm39) R281S possibly damaging Het
Mthfd1 T C 12: 76,335,699 (GRCm39) Y258H probably damaging Het
Nexn C T 3: 151,953,680 (GRCm39) E247K probably damaging Het
Or11g27 T A 14: 50,770,897 (GRCm39) N9K probably benign Het
Or3a10 C T 11: 73,935,653 (GRCm39) G149D possibly damaging Het
Or9e1 T A 11: 58,732,708 (GRCm39) V256E probably benign Het
Phrf1 T A 7: 140,839,593 (GRCm39) probably benign Het
Prc1 A G 7: 79,961,969 (GRCm39) N52S probably damaging Het
Psd G C 19: 46,312,859 (GRCm39) S170R probably benign Het
Slco1a7 A G 6: 141,690,264 (GRCm39) V163A probably benign Het
Stat2 A G 10: 128,112,770 (GRCm39) probably null Het
Sycp3 A G 10: 88,303,234 (GRCm39) E166G probably damaging Het
Szt2 G A 4: 118,226,599 (GRCm39) T510I probably damaging Het
Trank1 A T 9: 111,196,001 (GRCm39) T1342S probably benign Het
Trav3-1 C A 14: 52,818,515 (GRCm39) A63E probably benign Het
Trim34b A T 7: 103,985,439 (GRCm39) N358I probably benign Het
Trmt11 G C 10: 30,423,744 (GRCm39) P387R probably damaging Het
Vmn2r82 T A 10: 79,217,090 (GRCm39) I474N probably damaging Het
Vrk2 C A 11: 26,433,324 (GRCm39) S286I possibly damaging Het
Wdfy3 A T 5: 102,023,796 (GRCm39) I2451N probably benign Het
Zfp326 G A 5: 106,036,395 (GRCm39) R102H probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTATACTATGCTAGCACACCCAG -3'
(R):5'- TGCAGGCTCTTCACAATAGC -3'

Sequencing Primer
(F):5'- CACACCCAGTGGAGAGAGC -3'
(R):5'- GCTACATAGTCTAAAGGGTCCC -3'
Posted On 2014-12-04