Incidental Mutation 'R6607:Rbks'
ID 525731
Institutional Source Beutler Lab
Gene Symbol Rbks
Ensembl Gene ENSMUSG00000029136
Gene Name ribokinase
Synonyms 5230400M11Rik
MMRRC Submission 044730-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.343) question?
Stock # R6607 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 31781783-31854971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31805136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 243 (V243M)
Ref Sequence ENSEMBL: ENSMUSP00000031018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031018] [ENSMUST00000201910]
AlphaFold Q8R1Q9
Predicted Effect possibly damaging
Transcript: ENSMUST00000031018
AA Change: V243M

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136
AA Change: V243M

DomainStartEndE-ValueType
Pfam:PfkB 16 315 2.1e-66 PFAM
Pfam:Phos_pyr_kin 166 306 9.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200694
Predicted Effect probably benign
Transcript: ENSMUST00000201910
SMART Domains Protein: ENSMUSP00000144669
Gene: ENSMUSG00000106918

DomainStartEndE-ValueType
PDB:4CE4|6 1 49 9e-15 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202243
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (27/28)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,507 (GRCm39) D92G possibly damaging Het
Ace A T 11: 105,863,203 (GRCm39) H326L possibly damaging Het
Adtrp A G 13: 41,931,087 (GRCm39) F167L probably benign Het
Agbl2 A G 2: 90,631,670 (GRCm39) T343A probably damaging Het
Cacna1a A T 8: 85,306,121 (GRCm39) I1290F probably damaging Het
Cdh4 G A 2: 179,515,889 (GRCm39) V356I probably benign Het
Celsr1 A G 15: 85,847,486 (GRCm39) V1417A probably benign Het
Ctbs A G 3: 146,163,128 (GRCm39) D172G possibly damaging Het
Dnah5 A G 15: 28,445,346 (GRCm39) T4161A possibly damaging Het
Dut A G 2: 125,098,787 (GRCm39) D140G probably damaging Het
Ep400 T C 5: 110,831,180 (GRCm39) D2162G unknown Het
Esyt2 G A 12: 116,332,360 (GRCm39) D781N probably benign Het
Fam174b T C 7: 73,416,312 (GRCm39) L135P probably damaging Het
Fbxo15 A T 18: 84,977,270 (GRCm39) T106S possibly damaging Het
Foxq1 A G 13: 31,743,129 (GRCm39) D77G possibly damaging Het
Gclm G A 3: 122,049,264 (GRCm39) probably null Het
Gcn1 T A 5: 115,747,537 (GRCm39) S1677T probably damaging Het
Hamp2 T A 7: 30,622,013 (GRCm39) R59* probably null Het
Herc1 C T 9: 66,325,849 (GRCm39) A1441V probably benign Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc17a4 T C 13: 24,089,397 (GRCm39) probably null Het
Slc29a1 A C 17: 45,899,853 (GRCm39) probably null Het
Tenm2 A G 11: 35,954,602 (GRCm39) probably null Het
Tmem26 T A 10: 68,614,543 (GRCm39) H319Q probably benign Het
Vmn1r203 A G 13: 22,708,891 (GRCm39) Y224C probably benign Het
Vmn1r223 T C 13: 23,433,919 (GRCm39) I171T probably damaging Het
Vmn2r101 T C 17: 19,832,296 (GRCm39) L764S probably damaging Het
Vmn2r84 T C 10: 130,226,731 (GRCm39) H369R possibly damaging 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
R4546: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
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'- CCAATGACTTAGCAGAGGTCAG -3'
(R):5'- TGTTTCCTAAAGGGCAGACC -3'

Sequencing Primer
(F):5'- AGGGCTCTCCTGTTTGGCTATC -3'
(R):5'- AGACCTGAGCAGACCTCG -3'
Posted On 2018-06-22