Incidental Mutation 'IGL02019:Rbks'
ID 183896
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 # IGL02019
Quality Score
Status
Chromosome 5
Chromosomal Location 31781783-31854971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31817361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 136 (D136V)
Ref Sequence ENSEMBL: ENSMUSP00000031018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031018] [ENSMUST00000201910]
AlphaFold Q8R1Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000031018
AA Change: D136V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136
AA Change: D136V

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 noncoding transcript
Transcript: ENSMUST00000201719
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: ENSMUST00000202033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202690
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik C T 5: 115,017,645 (GRCm39) A178V possibly damaging Het
Acad11 A G 9: 103,992,544 (GRCm39) I495M probably damaging Het
Adgrd1 T C 5: 129,192,202 (GRCm39) S91P probably benign Het
Agk A G 6: 40,353,160 (GRCm39) I175V probably damaging Het
Ascc3 A T 10: 50,566,235 (GRCm39) N727Y probably damaging Het
Atrnl1 A T 19: 57,680,195 (GRCm39) probably benign Het
B4galt3 G A 1: 171,099,362 (GRCm39) G42D probably damaging Het
Brd10 A T 19: 29,694,463 (GRCm39) S976T probably benign Het
Brip1 C T 11: 86,088,775 (GRCm39) C42Y possibly damaging Het
Camkk1 T C 11: 72,928,027 (GRCm39) F233L probably damaging Het
Cd300ld A T 11: 114,878,227 (GRCm39) M95K probably damaging Het
Cdv3 A G 9: 103,237,224 (GRCm39) probably benign Het
Cog3 G T 14: 75,968,044 (GRCm39) Q430K possibly damaging Het
D6Wsu163e G A 6: 126,932,184 (GRCm39) G308S probably damaging Het
Dnah2 A G 11: 69,365,111 (GRCm39) M1951T probably damaging Het
Elavl3 G A 9: 21,948,014 (GRCm39) T51I probably damaging Het
Eri2 A T 7: 119,385,303 (GRCm39) C399* probably null Het
Ezh2 A T 6: 47,528,835 (GRCm39) probably null Het
Fgd6 C A 10: 93,969,216 (GRCm39) T1161K probably damaging Het
Gbf1 A T 19: 46,267,731 (GRCm39) H1193L possibly damaging Het
Gbp2b T A 3: 142,312,751 (GRCm39) F378Y possibly damaging Het
Hectd2 G A 19: 36,592,916 (GRCm39) V694M possibly damaging Het
Hook1 T A 4: 95,910,434 (GRCm39) S683T probably benign Het
Ifi202b G A 1: 173,802,550 (GRCm39) R95C possibly damaging Het
Kdm8 G T 7: 125,051,658 (GRCm39) V84L probably damaging Het
Kifc3 G A 8: 95,834,168 (GRCm39) probably benign Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lrig1 G T 6: 94,593,410 (GRCm39) Q424K probably damaging Het
Lrriq1 A T 10: 103,014,661 (GRCm39) M1049K probably benign Het
Mcidas A G 13: 113,133,377 (GRCm39) N103D probably benign Het
Mdn1 T C 4: 32,749,948 (GRCm39) L4377S possibly damaging Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Mug2 G A 6: 122,024,394 (GRCm39) V489I probably benign Het
P2rx5 G T 11: 73,058,803 (GRCm39) probably benign Het
Pfas A T 11: 68,884,289 (GRCm39) probably benign Het
Pknox2 A G 9: 36,834,929 (GRCm39) L180P probably damaging Het
Psmd5 C A 2: 34,744,286 (GRCm39) C412F probably benign Het
Rgl1 A G 1: 152,404,220 (GRCm39) probably benign Het
Scube3 A G 17: 28,386,658 (GRCm39) D721G probably damaging Het
Snrnp200 T A 2: 127,074,825 (GRCm39) V1466D possibly damaging Het
Stambp A T 6: 83,529,013 (GRCm39) L344Q probably damaging Het
Tctn1 A T 5: 122,396,912 (GRCm39) I157N probably damaging Het
Top2b T A 14: 16,409,965 (GRCm38) D877E probably benign Het
Vmn1r78 G A 7: 11,886,634 (GRCm39) G82S probably damaging Het
Vnn1 T C 10: 23,779,449 (GRCm39) F453L possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Rbks
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-05-07