Incidental Mutation 'R4546:Rbks'
ID 333763
Institutional Source Beutler Lab
Gene Symbol Rbks
Ensembl Gene ENSMUSG00000029136
Gene Name ribokinase
Synonyms 5230400M11Rik
MMRRC Submission 041780-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.343) question?
Stock # R4546 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31781783-31854971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31781912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 296 (N296S)
Ref Sequence ENSEMBL: ENSMUSP00000031018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031018] [ENSMUST00000031024] [ENSMUST00000201910]
AlphaFold Q8R1Q9
Predicted Effect probably benign
Transcript: ENSMUST00000031018
AA Change: N296S

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136
AA Change: N296S

DomainStartEndE-ValueType
Pfam:PfkB 16 315 2.1e-66 PFAM
Pfam:Phos_pyr_kin 166 306 9.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031024
SMART Domains Protein: ENSMUSP00000031024
Gene: ENSMUSG00000106918

DomainStartEndE-ValueType
Pfam:Ribosomal_L33 16 60 1.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202033
Predicted Effect probably benign
Transcript: ENSMUST00000201910
SMART Domains Protein: ENSMUSP00000144669
Gene: ENSMUSG00000106918

DomainStartEndE-ValueType
PDB:4CE4|6 1 49 9e-15 PDB
Meta Mutation Damage Score 0.2050 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (65/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik G A 14: 70,393,927 (GRCm39) S236L probably benign Het
Ahcyl C T 16: 45,974,330 (GRCm39) C349Y possibly damaging Het
Alg9 C T 9: 50,716,654 (GRCm39) T409M possibly damaging Het
Alpi T A 1: 87,026,839 (GRCm39) Y413F probably damaging Het
Asmt T C X: 169,110,230 (GRCm39) probably null Het
Atf7 A G 15: 102,442,762 (GRCm39) V449A probably benign Het
Bnc2 A G 4: 84,210,213 (GRCm39) F744L probably benign Het
Ccnyl1 G T 1: 64,762,735 (GRCm39) M347I probably benign Het
Cdk13 T C 13: 17,941,159 (GRCm39) K21R probably damaging Het
Cenpf A C 1: 189,386,847 (GRCm39) L1811R probably damaging Het
Cfap91 C T 16: 38,155,885 (GRCm39) V113I probably benign Het
Cr2 A G 1: 194,853,349 (GRCm39) I43T possibly damaging Het
Cspg4 T A 9: 56,795,913 (GRCm39) L1216Q possibly damaging Het
Cylc2 A T 4: 51,229,840 (GRCm39) D394V unknown Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dcaf8 T C 1: 172,007,460 (GRCm39) probably benign Het
Dlec1 A T 9: 118,957,146 (GRCm39) I796F probably damaging Het
Dnah12 A T 14: 26,494,971 (GRCm39) Q1343L probably damaging Het
Dnajc21 T C 15: 10,447,183 (GRCm39) R522G probably benign Het
F2rl3 C T 8: 73,489,211 (GRCm39) A146V probably benign Het
Fastkd1 C T 2: 69,542,655 (GRCm39) E51K probably damaging Het
Glrb T C 3: 80,786,993 (GRCm39) S57G probably damaging Het
Gm5507 T A 18: 54,117,409 (GRCm39) noncoding transcript Het
Golga4 A G 9: 118,385,913 (GRCm39) K22E probably damaging Het
Hdac1-ps A T 17: 78,800,388 (GRCm39) T460S probably benign Het
Ift122 T A 6: 115,867,549 (GRCm39) L433Q probably damaging Het
Il21r A G 7: 125,228,071 (GRCm39) R181G probably damaging Het
Il5ra G T 6: 106,715,459 (GRCm39) S125* probably null Het
Kdm7a T C 6: 39,152,406 (GRCm39) R97G probably benign Het
Lepr T A 4: 101,671,838 (GRCm39) I954N probably benign Het
Lims1 T C 10: 58,254,612 (GRCm39) probably benign Het
Mest T C 6: 30,740,679 (GRCm39) W13R probably damaging Het
Mfn2 A G 4: 147,971,909 (GRCm39) V224A probably benign Het
Muc15 T C 2: 110,567,844 (GRCm39) S330P probably damaging Het
Ncapg T C 5: 45,828,554 (GRCm39) F102L probably damaging Het
Nkd2 T C 13: 73,971,475 (GRCm39) D187G probably benign Het
Nphp1 C T 2: 127,607,939 (GRCm39) probably null Het
Or10ag59 T C 2: 87,405,530 (GRCm39) F34S probably benign Het
Or1e19 T C 11: 73,316,012 (GRCm39) N266D probably benign Het
Or2a12 C T 6: 42,904,348 (GRCm39) S61L probably damaging Het
Osbpl6 T C 2: 76,414,836 (GRCm39) V409A possibly damaging Het
Pdhx A T 2: 102,903,742 (GRCm39) L18Q probably null Het
Pear1 C T 3: 87,661,968 (GRCm39) G469D probably damaging Het
Plec T C 15: 76,065,757 (GRCm39) T1506A probably benign Het
Plod3 T A 5: 137,017,801 (GRCm39) D192E possibly damaging Het
Sema3c G A 5: 17,899,770 (GRCm39) V421I probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Tmem200c A G 17: 69,149,166 (GRCm39) D583G probably benign Het
Trpm6 A G 19: 18,809,841 (GRCm39) Y1079C probably damaging Het
Ttn T C 2: 76,652,932 (GRCm39) probably null Het
Vcp T C 4: 42,988,813 (GRCm39) probably benign Het
Vmn2r78 T C 7: 86,603,811 (GRCm39) V663A probably damaging Het
Vmn2r9 T G 5: 108,995,551 (GRCm39) M366L probably benign Het
Wdr11 A G 7: 129,230,729 (GRCm39) E878G probably damaging Het
Zan C G 5: 137,382,096 (GRCm39) M5150I unknown Het
Other mutations in Rbks
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Rbks APN 5 31,817,361 (GRCm39) missense probably damaging 1.00
IGL02618:Rbks APN 5 31,781,863 (GRCm39) nonsense probably null
IGL02678:Rbks APN 5 31,830,757 (GRCm39) missense probably damaging 1.00
IGL02719:Rbks APN 5 31,809,145 (GRCm39) intron probably benign
IGL02947:Rbks APN 5 31,817,407 (GRCm39) missense probably benign
R0334:Rbks UTSW 5 31,781,863 (GRCm39) nonsense probably null
R1441:Rbks UTSW 5 31,817,341 (GRCm39) missense probably benign
R2568:Rbks UTSW 5 31,823,096 (GRCm39) missense probably damaging 0.99
R4545:Rbks UTSW 5 31,781,912 (GRCm39) missense probably benign 0.10
R4591:Rbks UTSW 5 31,817,352 (GRCm39) missense possibly damaging 0.52
R4833:Rbks UTSW 5 31,781,859 (GRCm39) missense probably benign 0.00
R4967:Rbks UTSW 5 31,781,876 (GRCm39) missense probably damaging 1.00
R5076:Rbks UTSW 5 31,807,795 (GRCm39) nonsense probably null
R5214:Rbks UTSW 5 31,807,736 (GRCm39) intron probably benign
R6051:Rbks UTSW 5 31,809,163 (GRCm39) missense probably damaging 1.00
R6194:Rbks UTSW 5 31,824,234 (GRCm39) missense probably benign 0.05
R6607:Rbks UTSW 5 31,805,136 (GRCm39) missense possibly damaging 0.92
R7246:Rbks UTSW 5 31,805,127 (GRCm39) missense possibly damaging 0.58
R8270:Rbks UTSW 5 31,807,810 (GRCm39) intron probably benign
R9070:Rbks UTSW 5 31,854,890 (GRCm39) missense probably benign 0.02
Z1177:Rbks UTSW 5 31,805,207 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CATCACTAACTCAAAGAGGGCTTG -3'
(R):5'- TGCTCCTTTTCTGGAACTCTGAAG -3'

Sequencing Primer
(F):5'- CTCAAAGAGGGCTTGATAACTTC -3'
(R):5'- TGGGTACTAAAGCTTGAACCTC -3'
Posted On 2015-08-18