Incidental Mutation 'IGL03331:Rps6kb1'
ID 416869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6kb1
Ensembl Gene ENSMUSG00000020516
Gene Name ribosomal protein S6 kinase, polypeptide 1
Synonyms S6K1, 2610318I15Rik, p70S6K1, p70/85s6k, p70s6k
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # IGL03331
Quality Score
Status
Chromosome 11
Chromosomal Location 86389697-86435631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86423656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 108 (V108E)
Ref Sequence ENSEMBL: ENSMUSP00000119715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058286] [ENSMUST00000138810] [ENSMUST00000154617]
AlphaFold Q8BSK8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000020824
Predicted Effect probably damaging
Transcript: ENSMUST00000058286
AA Change: V108E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516
AA Change: V108E

DomainStartEndE-ValueType
Pfam:Pkinase 91 202 1.2e-19 PFAM
Pfam:Pkinase_Tyr 91 253 5.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138810
AA Change: V55E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122756
Gene: ENSMUSG00000020516
AA Change: V55E

DomainStartEndE-ValueType
SCOP:d1koba_ 13 74 9e-13 SMART
PDB:4L3L|A 21 74 6e-30 PDB
Blast:S_TKc 38 74 7e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151748
Predicted Effect probably damaging
Transcript: ENSMUST00000154617
AA Change: V108E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: V108E

DomainStartEndE-ValueType
S_TKc 91 352 8.24e-107 SMART
S_TK_X 353 415 9.2e-27 SMART
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 C A 14: 78,751,305 (GRCm39) D361Y probably damaging Het
Arhgap10 T C 8: 78,146,711 (GRCm39) N231S probably damaging Het
Asb15 A T 6: 24,556,523 (GRCm39) D6V possibly damaging Het
C1qb G A 4: 136,607,604 (GRCm39) A253V probably damaging Het
Ccdc178 G T 18: 21,944,640 (GRCm39) probably null Het
Chst15 A G 7: 131,864,442 (GRCm39) L387P probably damaging Het
Clca3b T A 3: 144,533,724 (GRCm39) E550D probably benign Het
Dnah5 A G 15: 28,420,086 (GRCm39) K3795E probably damaging Het
Dppa2 T C 16: 48,134,242 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,545,149 (GRCm39) Y220C probably damaging Het
Fkbpl C T 17: 34,864,661 (GRCm39) T143I probably damaging Het
Gbe1 T G 16: 70,230,466 (GRCm39) Y155D probably damaging Het
Gm1979 T C 5: 26,207,008 (GRCm39) K69R probably damaging Het
Gna14 G A 19: 16,586,832 (GRCm39) V336M probably damaging Het
Gpr37 A G 6: 25,669,728 (GRCm39) V372A probably benign Het
H2bc12 T C 13: 22,220,443 (GRCm39) probably benign Het
Herc2 C A 7: 55,785,015 (GRCm39) probably benign Het
Krt20 T C 11: 99,326,256 (GRCm39) probably null Het
Lman1 T C 18: 66,126,275 (GRCm39) T284A probably benign Het
Matn2 A T 15: 34,345,503 (GRCm39) D170V probably damaging Het
Morc1 C A 16: 48,432,731 (GRCm39) probably benign Het
Necap1 T A 6: 122,857,376 (GRCm39) S34T probably benign Het
Nt5c3b T C 11: 100,327,041 (GRCm39) Y85C probably damaging Het
Or2t6 C A 14: 14,176,017 (GRCm38) A22S probably benign Het
Or5b102 T A 19: 13,041,231 (GRCm39) L152H probably damaging Het
Papln A G 12: 83,830,435 (GRCm39) M1016V probably benign Het
Pld1 T C 3: 28,139,994 (GRCm39) F605L probably damaging Het
Rbms2 T A 10: 127,969,504 (GRCm39) probably benign Het
Scap T C 9: 110,209,304 (GRCm39) probably null Het
Serpina1f T C 12: 103,657,150 (GRCm39) I307M probably benign Het
Tchh A G 3: 93,350,725 (GRCm39) D55G probably damaging Het
Tnfaip3 G T 10: 18,887,349 (GRCm39) Q59K possibly damaging Het
Vcan A G 13: 89,810,051 (GRCm39) C2287R probably damaging Het
Vmn2r6 T C 3: 64,445,428 (GRCm39) N766D 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
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
R9525:Rps6kb1 UTSW 11 86,410,746 (GRCm39) missense possibly damaging 0.88
Posted On 2016-08-02