Incidental Mutation 'R9525:Rps6kb1'
ID 719160
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R9525 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 86389697-86435631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86410746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 167 (K167N)
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: K167N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516
AA Change: K167N

DomainStartEndE-ValueType
Pfam:Pkinase 91 202 1.2e-19 PFAM
Pfam:Pkinase_Tyr 91 253 5.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000154617
AA Change: K167N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: K167N

DomainStartEndE-ValueType
S_TKc 91 352 8.24e-107 SMART
S_TK_X 353 415 9.2e-27 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,282,000 (GRCm39) D264V possibly damaging Het
Adgrv1 C T 13: 81,593,453 (GRCm39) G4178E possibly damaging Het
Alpk2 A G 18: 65,399,288 (GRCm39) Y2097H probably damaging Het
Anapc2 T C 2: 25,166,339 (GRCm39) S369P probably damaging Het
Atr C T 9: 95,792,610 (GRCm39) A1644V possibly damaging Het
Camsap1 G A 2: 25,843,962 (GRCm39) H230Y probably benign Het
Cbx7 A C 15: 79,814,797 (GRCm39) W35G probably damaging Het
Cc2d2b T C 19: 40,773,430 (GRCm39) Y498H probably damaging Het
Ccdc162 T A 10: 41,559,222 (GRCm39) R126W probably damaging Het
Cd274 T A 19: 29,359,879 (GRCm39) L228Q probably benign Het
Cfap57 A T 4: 118,433,778 (GRCm39) I1000N probably damaging Het
Cfhr4 G T 1: 139,702,250 (GRCm39) T78K probably damaging Het
Chadl C A 15: 81,578,220 (GRCm39) G470C probably damaging Het
Clasp2 T C 9: 113,740,677 (GRCm39) L1217P probably damaging Het
Crnkl1 A G 2: 145,770,198 (GRCm39) V215A probably benign Het
Dbx2 G T 15: 95,552,304 (GRCm39) H114N probably benign Het
Ddb2 T G 2: 91,065,180 (GRCm39) T82P probably benign Het
Emc8 T C 8: 121,394,656 (GRCm39) Y21C probably damaging Het
Epha1 A T 6: 42,344,758 (GRCm39) M66K probably damaging Het
Fan1 A C 7: 64,022,007 (GRCm39) probably null Het
Fgd2 T A 17: 29,583,955 (GRCm39) L123Q probably damaging Het
Flnb T A 14: 7,905,481 (GRCm38) V1077E probably damaging Het
Fnbp1l A T 3: 122,352,703 (GRCm39) M251K probably damaging Het
Gal3st2c T A 1: 93,935,928 (GRCm39) F93L probably damaging Het
Gdf2 T C 14: 33,667,564 (GRCm39) *429Q probably null Het
Gdpd5 A G 7: 99,104,156 (GRCm39) T455A possibly damaging Het
Gm8356 G T 14: 17,691,339 (GRCm39) Q109K Het
Gpr20 A T 15: 73,567,681 (GRCm39) V236E probably benign Het
Gpr39 T C 1: 125,800,323 (GRCm39) V358A probably damaging Het
Grin1 T C 2: 25,187,472 (GRCm39) N613D probably damaging Het
H2bc15 G T 13: 21,938,305 (GRCm39) A5S unknown Het
Hepacam2 A G 6: 3,476,046 (GRCm39) V293A probably benign Het
Igf1r G A 7: 67,864,682 (GRCm39) R1160Q probably damaging Het
Iqcd T C 5: 120,738,217 (GRCm39) Y12H probably benign Het
Itih1 T C 14: 30,658,711 (GRCm39) S393G probably benign Het
Klhl33 T C 14: 51,128,929 (GRCm39) M507V probably null Het
Mast4 G T 13: 102,872,944 (GRCm39) H2141Q probably benign Het
Mkrn2 T A 6: 115,587,486 (GRCm39) D54E probably damaging Het
Mrm3 A G 11: 76,141,104 (GRCm39) T371A possibly damaging Het
Msantd5f3 G A 4: 73,573,061 (GRCm39) S100N probably benign Het
Mylk2 T A 2: 152,759,552 (GRCm39) M414K probably damaging Het
Nlrp4b A G 7: 10,448,748 (GRCm39) E317G probably damaging Het
Or51b6b A T 7: 103,310,142 (GRCm39) I105N probably damaging Het
Or51i2 A G 7: 103,689,820 (GRCm39) I272M possibly damaging Het
Or8k20 A G 2: 86,106,484 (GRCm39) S116P probably benign Het
Pcdhb18 T A 18: 37,624,887 (GRCm39) V739E probably damaging Het
Pkhd1l1 A T 15: 44,448,322 (GRCm39) T3834S possibly damaging Het
Pkp3 A G 7: 140,668,310 (GRCm39) D546G probably damaging Het
Pot1a A T 6: 25,745,916 (GRCm39) M595K probably benign Het
Pus7l A G 15: 94,438,764 (GRCm39) I27T probably damaging Het
Rbp3 A G 14: 33,676,402 (GRCm39) I117V probably benign Het
Rnf19a A T 15: 36,247,375 (GRCm39) L454H probably damaging Het
Saxo1 A T 4: 86,363,186 (GRCm39) Y432* probably null Het
Setdb2 A T 14: 59,646,841 (GRCm39) V558E probably benign Het
Spmap2l A G 5: 77,195,138 (GRCm39) N104S probably benign Het
Tbck T C 3: 132,456,966 (GRCm39) F627L probably damaging Het
Tbpl2 T G 2: 23,986,547 (GRCm39) M1L probably benign Het
Timp2 A C 11: 118,194,678 (GRCm39) D170E probably benign Het
Tomm40 A G 7: 19,436,812 (GRCm39) Y303H probably damaging Het
Trgv5 T C 13: 19,376,885 (GRCm39) C111R probably damaging Het
Trhr T C 15: 44,060,873 (GRCm39) I131T possibly damaging Het
Vmn1r159 A G 7: 22,542,417 (GRCm39) V205A probably damaging Het
Vmn2r25 G T 6: 123,800,164 (GRCm39) T726K probably damaging Het
Wwox T A 8: 115,433,105 (GRCm39) V257E probably benign Het
Xxylt1 A G 16: 30,869,593 (GRCm39) I169T probably benign Het
Zfp1007 A T 5: 109,824,846 (GRCm39) N201K Het
Zfp457 T C 13: 67,441,492 (GRCm39) Y361C probably 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
R4291:Rps6kb1 UTSW 11 86,410,702 (GRCm39) intron probably benign
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
Predicted Primers PCR Primer
(F):5'- GTGGATTACAATAGATAACCCAGC -3'
(R):5'- CAGTGAGTAGCCTCCATTACCC -3'

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