Incidental Mutation 'IGL02618:Rbks'
ID 300749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbks
Ensembl Gene ENSMUSG00000029136
Gene Name ribokinase
Synonyms 5230400M11Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.343) question?
Stock # IGL02618
Quality Score
Status
Chromosome 5
Chromosomal Location 31781783-31854971 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 31781863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 312 (Y312*)
Ref Sequence ENSEMBL: ENSMUSP00000031018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031018] [ENSMUST00000031024] [ENSMUST00000201910]
AlphaFold Q8R1Q9
Predicted Effect probably null
Transcript: ENSMUST00000031018
AA Change: Y312*
SMART Domains Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136
AA Change: Y312*

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: ENSMUST00000201923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201999
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 0.9755 question?
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,104,086 (GRCm39) Q178* probably null Het
Adgre1 T A 17: 57,751,021 (GRCm39) V565E possibly damaging Het
Arfgef2 C A 2: 166,695,233 (GRCm39) N535K probably damaging Het
Bbx A G 16: 50,068,161 (GRCm39) L161S probably damaging Het
Bclaf1 T C 10: 20,199,274 (GRCm39) S224P probably damaging Het
Car2 A G 3: 14,963,032 (GRCm39) D189G probably benign Het
Catsperb A T 12: 101,446,983 (GRCm39) probably benign Het
Ccdc88c C T 12: 100,879,812 (GRCm39) V1770I probably benign Het
Cebpe T C 14: 54,948,234 (GRCm39) D203G probably damaging Het
Chn2 A G 6: 54,197,422 (GRCm39) N104S probably damaging Het
Clec2i G A 6: 128,873,464 (GRCm39) C231Y probably damaging Het
Col4a5 C T X: 140,466,678 (GRCm39) P1557S probably damaging Het
Creb3l1 T C 2: 91,813,543 (GRCm39) N498S probably benign Het
Ctnnal1 A T 4: 56,817,060 (GRCm39) D587E probably benign Het
Dnmt3l T C 10: 77,889,856 (GRCm39) probably benign Het
Dock7 A G 4: 98,971,265 (GRCm39) V100A probably benign Het
Frk C T 10: 34,459,960 (GRCm39) T185I possibly damaging Het
Frmd4b G A 6: 97,285,066 (GRCm39) Q340* probably null Het
Lima1 C A 15: 99,700,097 (GRCm39) probably benign Het
Mtcl2 A G 2: 156,882,486 (GRCm39) L522P probably damaging Het
Ndrg1 G A 15: 66,812,086 (GRCm39) H202Y probably benign Het
Nxpe2 T G 9: 48,237,634 (GRCm39) N207T probably damaging Het
Or5ac19 A T 16: 59,089,290 (GRCm39) S247T probably damaging Het
Pdzph1 T C 17: 59,186,068 (GRCm39) probably benign Het
Pinx1 A G 14: 64,105,969 (GRCm39) D75G probably damaging Het
Plxdc1 A T 11: 97,823,130 (GRCm39) D370E probably benign Het
Polb A T 8: 23,127,109 (GRCm39) L228Q probably damaging Het
Rab3gap2 T A 1: 184,983,938 (GRCm39) I521N possibly damaging Het
Rapgef1 A G 2: 29,627,955 (GRCm39) D1045G probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Src A T 2: 157,306,698 (GRCm39) K234* probably null Het
Stk36 C A 1: 74,670,834 (GRCm39) probably benign Het
Ttll6 G T 11: 96,038,388 (GRCm39) C412F probably benign Het
Zfp58 A G 13: 67,639,475 (GRCm39) F339L possibly damaging Het
Other mutations in Rbks
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Rbks APN 5 31,817,361 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2015-04-16