Incidental Mutation 'IGL02678:Rbks'
ID303246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbks
Ensembl Gene ENSMUSG00000029136
Gene Nameribokinase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.470) question?
Stock #IGL02678
Quality Score
Status
Chromosome5
Chromosomal Location31624439-31697627 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 31673413 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 42 (T42N)
Ref Sequence ENSEMBL: ENSMUSP00000031018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031018]
Predicted Effect probably damaging
Transcript: ENSMUST00000031018
AA Change: T42N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136
AA Change: T42N

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: ENSMUST00000202033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202036
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,228,917 Y360C probably damaging Het
Aasdh A G 5: 76,888,020 probably benign Het
Adgrb1 A G 15: 74,538,328 E272G probably damaging Het
Alcam G A 16: 52,274,038 P416S probably damaging Het
B3galt1 A G 2: 68,118,910 H323R probably benign Het
Bahcc1 G A 11: 120,272,871 S665N probably damaging Het
Birc6 T C 17: 74,649,903 S3631P probably damaging Het
Capn3 A C 2: 120,502,998 N621T probably damaging Het
Ccdc162 G A 10: 41,561,155 H480Y probably damaging Het
Ccr2 T A 9: 124,106,746 D354E probably benign Het
Cdc42bpb T G 12: 111,326,096 D335A probably damaging Het
Chrd G T 16: 20,734,020 R89L probably damaging Het
Cops2 T C 2: 125,844,911 R91G probably benign Het
Ddi1 T C 9: 6,266,106 T88A probably benign Het
Dnaic1 A C 4: 41,602,917 E140A probably benign Het
Gcn1l1 A G 5: 115,613,755 D2063G probably damaging Het
Gdpd4 A T 7: 97,974,377 probably benign Het
Gif T C 19: 11,748,475 M43T probably damaging Het
Gm13212 A T 4: 145,622,497 H168L probably damaging Het
Gm2075 C A 12: 88,012,176 P110Q possibly damaging Het
Gm6614 A T 6: 142,008,718 Y10N probably damaging Het
Gng7 C A 10: 80,951,684 L48F probably damaging Het
Htt G T 5: 34,899,902 C2725F probably damaging Het
Inpp4b A G 8: 81,856,744 K159R probably damaging Het
Insr G T 8: 3,173,570 N854K probably benign Het
Ktn1 A T 14: 47,734,153 probably null Het
Lcat A G 8: 105,941,940 probably null Het
Mb21d2 T C 16: 28,828,049 E391G probably benign Het
Mms19 A G 19: 41,954,476 S354P possibly damaging Het
Mx2 G A 16: 97,556,120 probably null Het
Mycl G A 4: 122,999,983 R192Q probably damaging Het
Mzf1 A G 7: 13,052,909 V78A possibly damaging Het
Nipbl G T 15: 8,351,110 P733T possibly damaging Het
Nploc4 A G 11: 120,389,372 I450T probably benign Het
Olfr948 C T 9: 39,318,921 S231N probably benign Het
Omd A T 13: 49,592,281 E389V probably benign Het
Oxgr1 A G 14: 120,022,168 L209P probably damaging Het
Pak1 A C 7: 97,894,002 T291P probably damaging Het
Pcmtd1 T A 1: 7,169,821 I338K probably damaging Het
Phrf1 A G 7: 141,260,282 D364G probably damaging Het
Pomk G A 8: 25,983,107 P273S probably damaging Het
Psg22 A T 7: 18,719,493 I38F probably damaging Het
Rrbp1 A G 2: 143,990,187 V20A probably damaging Het
Six4 T C 12: 73,112,634 Y176C probably damaging Het
Slc11a2 T A 15: 100,412,200 M9L possibly damaging Het
Slc16a11 T C 11: 70,215,416 L112S probably damaging Het
Slc25a28 A T 19: 43,667,147 probably benign Het
Slc30a3 G A 5: 31,088,332 R237* probably null Het
Smc1b G A 15: 85,065,000 R1237* probably null Het
Smtn T C 11: 3,526,353 E585G possibly damaging Het
Spatc1 A T 15: 76,292,372 D441V probably damaging Het
Tenm4 A G 7: 96,896,219 N2481D probably damaging Het
Tnks2 A T 19: 36,845,743 I137F possibly damaging Het
Trip11 T C 12: 101,883,390 K1472E probably damaging Het
Ttn C A 2: 76,878,316 E1846* probably null Het
Vwa8 A G 14: 78,984,200 D532G probably damaging Het
Zfp977 G A 7: 42,582,995 T14I probably damaging Het
Other mutations in Rbks
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Rbks APN 5 31660017 missense probably damaging 1.00
IGL02618:Rbks APN 5 31624519 nonsense probably null
IGL02719:Rbks APN 5 31651801 intron probably benign
IGL02947:Rbks APN 5 31660063 missense probably benign
R0334:Rbks UTSW 5 31624519 nonsense probably null
R1441:Rbks UTSW 5 31659997 missense probably benign
R2568:Rbks UTSW 5 31665752 missense probably damaging 0.99
R4545:Rbks UTSW 5 31624568 missense probably benign 0.10
R4546:Rbks UTSW 5 31624568 missense probably benign 0.10
R4591:Rbks UTSW 5 31660008 missense possibly damaging 0.52
R4833:Rbks UTSW 5 31624515 missense probably benign 0.00
R4967:Rbks UTSW 5 31624532 missense probably damaging 1.00
R5076:Rbks UTSW 5 31650451 nonsense probably null
R5214:Rbks UTSW 5 31650392 intron probably benign
R6051:Rbks UTSW 5 31651819 missense probably damaging 1.00
R6194:Rbks UTSW 5 31666890 missense probably benign 0.05
R6607:Rbks UTSW 5 31647792 missense possibly damaging 0.92
R7246:Rbks UTSW 5 31647783 missense possibly damaging 0.58
Posted On2015-04-16