Incidental Mutation 'R4291:Rps6kb1'
ID 323073
Institutional Source Beutler Lab
Gene Symbol Rps6kb1
Ensembl Gene ENSMUSG00000020516
Gene Name ribosomal protein S6 kinase, polypeptide 1
Synonyms S6K1, 2610318I15Rik, p70S6K1, p70/85s6k, p70s6k
MMRRC Submission 041081-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R4291 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 86389697-86435631 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 86410702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058286] [ENSMUST00000154617]
AlphaFold Q8BSK8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000020824
Predicted Effect probably benign
Transcript: ENSMUST00000058286
SMART Domains Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516

DomainStartEndE-ValueType
Pfam:Pkinase 91 202 1.2e-19 PFAM
Pfam:Pkinase_Tyr 91 253 5.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151748
Predicted Effect probably benign
Transcript: ENSMUST00000154617
SMART Domains Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516

DomainStartEndE-ValueType
S_TKc 91 352 8.24e-107 SMART
S_TK_X 353 415 9.2e-27 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,120,337 (GRCm39) F27S probably benign Het
AK157302 T A 13: 21,679,715 (GRCm39) D80E probably damaging Het
Amz2 T C 11: 109,324,881 (GRCm39) probably null Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Ankrd34c T A 9: 89,611,817 (GRCm39) K175* probably null Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Brpf3 G A 17: 29,042,949 (GRCm39) V997M probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cd96 T A 16: 45,892,112 (GRCm39) Q292L probably damaging Het
Cdh18 C A 15: 22,714,637 (GRCm39) probably benign Het
Cfb T G 17: 35,080,114 (GRCm39) D122A possibly damaging Het
Copa G T 1: 171,919,964 (GRCm39) probably benign Het
Ctnna2 T A 6: 76,859,728 (GRCm39) K854N probably damaging Het
Cwh43 G A 5: 73,569,275 (GRCm39) V106M probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Dnah8 T C 17: 30,967,533 (GRCm39) S2582P probably benign Het
Eef2 A G 10: 81,015,414 (GRCm39) T312A probably benign Het
Enpep T A 3: 129,063,966 (GRCm39) R934* probably null Het
Fam240b A T 13: 64,629,627 (GRCm39) M63K possibly damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gsn G A 2: 35,180,432 (GRCm39) V147I probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hectd3 A G 4: 116,852,889 (GRCm39) E97G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Krba1 C T 6: 48,392,599 (GRCm39) P802S possibly damaging Het
Lca5l C T 16: 95,979,974 (GRCm39) S52N probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Map3k4 G T 17: 12,474,147 (GRCm39) Q845K probably benign Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mcm9 C A 10: 53,423,668 (GRCm39) M677I probably benign Het
Mkrn2 A G 6: 115,594,395 (GRCm39) T369A possibly damaging Het
Mthfr C A 4: 148,139,949 (GRCm39) N623K probably damaging Het
Myh2 T C 11: 67,071,985 (GRCm39) V571A probably benign Het
Nom1 G A 5: 29,651,370 (GRCm39) probably null Het
Nucb1 T A 7: 45,144,704 (GRCm39) D283V probably damaging Het
Or12e8 G A 2: 87,188,419 (GRCm39) M210I probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Pcdhb1 A C 18: 37,398,470 (GRCm39) L140F probably damaging Het
Ptgs2 G A 1: 149,976,002 (GRCm39) A10T probably benign Het
Rfx3 C T 19: 27,777,632 (GRCm39) R497Q probably damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Tet3 T C 6: 83,350,181 (GRCm39) T961A probably damaging Het
Ttc27 T C 17: 75,163,474 (GRCm39) L694P probably damaging Het
Vmn1r238 G A 18: 3,123,214 (GRCm39) Q67* probably null Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwf A T 6: 125,619,285 (GRCm39) Y1321F probably damaging Het
Wfdc1 C A 8: 120,406,194 (GRCm39) P103Q probably damaging Het
Zfp488 C A 14: 33,692,851 (GRCm39) C104F possibly damaging Het
Other mutations in Rps6kb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Rps6kb1 APN 11 86,393,592 (GRCm39) missense probably benign
IGL02707:Rps6kb1 APN 11 86,426,236 (GRCm39) critical splice donor site probably null
IGL03101:Rps6kb1 APN 11 86,393,708 (GRCm39) missense probably benign 0.23
IGL03331:Rps6kb1 APN 11 86,423,656 (GRCm39) missense probably damaging 1.00
Cobb UTSW 11 86,410,757 (GRCm39) missense possibly damaging 0.83
R0025:Rps6kb1 UTSW 11 86,402,413 (GRCm39) critical splice donor site probably null
R1797:Rps6kb1 UTSW 11 86,393,634 (GRCm39) nonsense probably null
R1931:Rps6kb1 UTSW 11 86,423,647 (GRCm39) missense possibly damaging 0.52
R2214:Rps6kb1 UTSW 11 86,424,896 (GRCm39) missense possibly damaging 0.71
R3196:Rps6kb1 UTSW 11 86,397,633 (GRCm39) missense probably benign 0.01
R3699:Rps6kb1 UTSW 11 86,423,620 (GRCm39) missense probably damaging 1.00
R4171:Rps6kb1 UTSW 11 86,435,405 (GRCm39) missense possibly damaging 0.68
R4685:Rps6kb1 UTSW 11 86,410,713 (GRCm39) splice site probably null
R4727:Rps6kb1 UTSW 11 86,435,484 (GRCm39) splice site probably null
R4728:Rps6kb1 UTSW 11 86,435,484 (GRCm39) splice site probably null
R5450:Rps6kb1 UTSW 11 86,423,663 (GRCm39) missense probably damaging 1.00
R5648:Rps6kb1 UTSW 11 86,403,697 (GRCm39) missense possibly damaging 0.54
R5796:Rps6kb1 UTSW 11 86,402,677 (GRCm39) missense probably benign 0.26
R5955:Rps6kb1 UTSW 11 86,404,431 (GRCm39) missense probably damaging 1.00
R7080:Rps6kb1 UTSW 11 86,397,666 (GRCm39) missense probably damaging 1.00
R7450:Rps6kb1 UTSW 11 86,393,657 (GRCm39) missense probably benign 0.11
R7709:Rps6kb1 UTSW 11 86,404,148 (GRCm39) missense probably damaging 1.00
R8084:Rps6kb1 UTSW 11 86,426,262 (GRCm39) missense probably benign 0.00
R8366:Rps6kb1 UTSW 11 86,402,655 (GRCm39) missense probably damaging 1.00
R8723:Rps6kb1 UTSW 11 86,410,757 (GRCm39) missense possibly damaging 0.83
R9192:Rps6kb1 UTSW 11 86,404,381 (GRCm39) missense probably damaging 1.00
R9484:Rps6kb1 UTSW 11 86,408,443 (GRCm39) missense probably damaging 1.00
R9525:Rps6kb1 UTSW 11 86,410,746 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- ACTCTCAGTAAGCTTCCACATTTCG -3'
(R):5'- TCCTTTAGGCAATGATAGTGAGG -3'

Sequencing Primer
(F):5'- GTGGATTACAATAGATAACCCAGC -3'
(R):5'- GAATGCTAAGGACACGGCCC -3'
Posted On 2015-06-20