Incidental Mutation 'R9484:Rps6kb1'
ID 716468
Institutional Source Beutler Lab
Gene Symbol Rps6kb1
Ensembl Gene ENSMUSG00000020516
Gene Name ribosomal protein S6 kinase, polypeptide 1
Synonyms p70s6k, 2610318I15Rik, S6K1, p70/85s6k
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R9484 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 86498871-86544805 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86517617 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 185 (E185K)
Ref Sequence ENSEMBL: ENSMUSP00000119715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058286] [ENSMUST00000154617]
AlphaFold Q8BSK8
Predicted Effect probably damaging
Transcript: ENSMUST00000058286
AA Change: E185K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516
AA Change: E185K

DomainStartEndE-ValueType
Pfam:Pkinase 91 202 1.2e-19 PFAM
Pfam:Pkinase_Tyr 91 253 5.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154617
AA Change: E185K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: E185K

DomainStartEndE-ValueType
S_TKc 91 352 8.24e-107 SMART
S_TK_X 353 415 9.2e-27 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.1%
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 ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced prenatal growth, glucose intolerance, and hypoinsulinemia associated with diminished pancreatic beta cell size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,112,786 C151S probably damaging Het
Actr8 T C 14: 29,986,344 I193T probably benign Het
Btbd2 T C 10: 80,644,269 N419S probably benign Het
Cacna2d1 T A 5: 16,356,833 W821R probably damaging Het
Cadps2 T C 6: 23,626,647 Y214C probably benign Het
Calu T A 6: 29,366,163 L180Q probably damaging Het
Corin C T 5: 72,339,937 V615I probably damaging Het
Cyp8b1 A T 9: 121,915,917 D116E probably benign Het
D630036H23Rik C A 12: 36,381,712 A96S unknown Het
Ddx24 A T 12: 103,411,296 Y717N probably damaging Het
Dmap1 G T 4: 117,676,111 Q249K probably benign Het
Dnah10 T A 5: 124,823,444 W3922R probably damaging Het
Dnah14 T C 1: 181,690,208 F2036L probably benign Het
Dnah14 T C 1: 181,797,746 I4064T probably benign Het
Dock9 A C 14: 121,581,432 V1546G probably damaging Het
Eif3a A T 19: 60,766,568 S1059T unknown Het
Ep300 A G 15: 81,636,825 E1262G unknown Het
Evl T A 12: 108,686,457 I387N probably damaging Het
Fat2 A C 11: 55,309,926 V774G probably damaging Het
Fez1 T A 9: 36,843,797 Y31N probably benign Het
Fkbp10 A G 11: 100,423,134 I435V probably damaging Het
Flnb A G 14: 7,929,004 D1911G probably benign Het
Fnbp1 T C 2: 31,083,026 Y154C probably benign Het
Fndc10 T C 4: 155,695,039 I180T possibly damaging Het
Frmd4a G A 2: 4,604,215 V965I possibly damaging Het
Gabrr2 A G 4: 33,071,352 H64R possibly damaging Het
Glis3 T C 19: 28,531,003 D527G probably damaging Het
Gm2022 A T 12: 87,895,479 Q37L possibly damaging Het
H2-Ob T A 17: 34,241,015 F33L probably damaging Het
Hbb-bh1 C T 7: 103,843,032 E27K probably benign Het
Ifnb1 T A 4: 88,522,678 T33S probably benign Het
Igkv4-80 T A 6: 69,016,782 T42S probably damaging Het
Irs2 C T 8: 11,007,334 G366D probably damaging Het
Kcnk2 CAAA CAA 1: 189,256,694 probably null Het
Krtap5-3 T A 7: 142,202,331 C302S unknown Het
Lgi1 A G 19: 38,306,309 K510E probably benign Het
Lgi2 T A 5: 52,538,594 D341V probably benign Het
Lin7c T C 2: 109,894,468 I14T probably benign Het
Lrrc19 A T 4: 94,643,336 M13K probably benign Het
Lrrc69 T C 4: 14,666,012 I315M probably benign Het
Myo5c A T 9: 75,297,488 D1541V probably damaging Het
Mypn T G 10: 63,167,240 M373L probably benign Het
Nckipsd C A 9: 108,812,638 H333N probably damaging Het
Nrg2 A T 18: 36,024,348 L428Q probably null Het
Olfr1367 C A 13: 21,347,417 T163K probably damaging Het
Olfr235 T C 19: 12,268,371 I47T possibly damaging Het
Olfr53 T C 7: 140,651,991 L4S probably benign Het
Otogl T A 10: 107,822,033 probably null Het
Otogl C T 10: 107,901,295 G86D probably damaging Het
Papln A T 12: 83,791,844 Q1249L probably benign Het
Plxna2 G T 1: 194,644,894 G379C probably damaging Het
Pofut2 T C 10: 77,259,426 I35T probably benign Het
Pros1 A G 16: 62,924,524 T501A possibly damaging Het
Rapgef1 T C 2: 29,735,809 S1042P possibly damaging Het
Slc13a2 A T 11: 78,403,407 L216Q probably damaging Het
Slc22a14 T C 9: 119,180,549 Y160C probably damaging Het
Slc22a4 T A 11: 53,988,947 I429F possibly damaging Het
Slc26a3 A G 12: 31,461,786 K457E probably damaging Het
Slc47a2 T C 11: 61,336,234 I169M possibly damaging Het
Slco1a1 C T 6: 141,908,946 V660I probably benign Het
Smyd1 A G 6: 71,225,466 Y252H probably damaging Het
Soga3 G A 10: 29,196,973 D754N probably damaging Het
Spp2 A T 1: 88,406,973 probably benign Het
Stra8 T A 6: 34,934,186 W250R probably damaging Het
Syne1 A C 10: 5,220,359 L5183R probably damaging Het
Tdrd9 T C 12: 112,046,250 S1203P probably damaging Het
Th C A 7: 142,899,883 E27* probably null Het
Thada C A 17: 84,429,191 L887F probably damaging Het
Timm23 T C 14: 32,180,629 T186A probably benign Het
Tmem132b A T 5: 125,783,356 E555V probably damaging Het
Tnik A T 3: 28,594,944 Q457L unknown Het
Uba7 C A 9: 107,983,838 H942Q probably benign Het
Upf2 T C 2: 5,961,267 S233P unknown Het
Urm1 T A 2: 29,842,748 N72K probably damaging Het
Usp10 T C 8: 119,948,765 S508P possibly damaging Het
Usp37 G A 1: 74,459,922 P632S probably damaging Het
Wdr77 T A 3: 105,965,088 N209K probably benign Het
Zbtb24 C T 10: 41,451,433 T105M probably benign Het
Zfp341 T A 2: 154,643,843 I671N probably damaging Het
Zfp414 A G 17: 33,630,010 T73A probably benign Het
Zfp574 A T 7: 25,081,979 I809F possibly damaging Het
Zfp62 T C 11: 49,217,281 I733T probably damaging Het
Zfp719 A G 7: 43,590,157 I390V possibly damaging Het
Other mutations in Rps6kb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Rps6kb1 APN 11 86502766 missense probably benign
IGL02707:Rps6kb1 APN 11 86535410 critical splice donor site probably null
IGL03101:Rps6kb1 APN 11 86502882 missense probably benign 0.23
IGL03331:Rps6kb1 APN 11 86532830 missense probably damaging 1.00
Cobb UTSW 11 86519931 missense possibly damaging 0.83
R0025:Rps6kb1 UTSW 11 86511587 critical splice donor site probably null
R1797:Rps6kb1 UTSW 11 86502808 nonsense probably null
R1931:Rps6kb1 UTSW 11 86532821 missense possibly damaging 0.52
R2214:Rps6kb1 UTSW 11 86534070 missense possibly damaging 0.71
R3196:Rps6kb1 UTSW 11 86506807 missense probably benign 0.01
R3699:Rps6kb1 UTSW 11 86532794 missense probably damaging 1.00
R4171:Rps6kb1 UTSW 11 86544579 missense possibly damaging 0.68
R4291:Rps6kb1 UTSW 11 86519876 intron probably benign
R4685:Rps6kb1 UTSW 11 86519887 splice site probably null
R4727:Rps6kb1 UTSW 11 86544658 splice site probably null
R4728:Rps6kb1 UTSW 11 86544658 splice site probably null
R5450:Rps6kb1 UTSW 11 86532837 missense probably damaging 1.00
R5648:Rps6kb1 UTSW 11 86512871 missense possibly damaging 0.54
R5796:Rps6kb1 UTSW 11 86511851 missense probably benign 0.26
R5955:Rps6kb1 UTSW 11 86513605 missense probably damaging 1.00
R7080:Rps6kb1 UTSW 11 86506840 missense probably damaging 1.00
R7450:Rps6kb1 UTSW 11 86502831 missense probably benign 0.11
R7709:Rps6kb1 UTSW 11 86513322 missense probably damaging 1.00
R8084:Rps6kb1 UTSW 11 86535436 missense probably benign 0.00
R8366:Rps6kb1 UTSW 11 86511829 missense probably damaging 1.00
R8723:Rps6kb1 UTSW 11 86519931 missense possibly damaging 0.83
R9192:Rps6kb1 UTSW 11 86513555 missense probably damaging 1.00
R9525:Rps6kb1 UTSW 11 86519920 missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GGCAAAGGAATCACGTGATCTC -3'
(R):5'- TAGCTTCCTGGAGATTTTAAAACCC -3'

Sequencing Primer
(F):5'- GGAATCACGTGATCTCCAATAGCTG -3'
(R):5'- AAACCCCAGTTTTTAGCAGCTTTTTG -3'
Posted On 2022-07-18