Incidental Mutation 'IGL01010:Rps6kb1'
ID53855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6kb1
Ensembl Gene ENSMUSG00000020516
Gene Nameribosomal protein S6 kinase, polypeptide 1
Synonymsp70s6k, 2610318I15Rik, S6K1, p70/85s6k
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL01010
Quality Score
Status
Chromosome11
Chromosomal Location86498871-86544805 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86502766 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 513 (M513V)
Ref Sequence ENSEMBL: ENSMUSP00000119715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020827] [ENSMUST00000154617]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000020824
Predicted Effect probably benign
Transcript: ENSMUST00000020827
SMART Domains Protein: ENSMUSP00000020827
Gene: ENSMUSG00000020521

DomainStartEndE-ValueType
low complexity region 92 104 N/A INTRINSIC
transmembrane domain 125 147 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
transmembrane domain 210 232 N/A INTRINSIC
transmembrane domain 244 266 N/A INTRINSIC
transmembrane domain 281 303 N/A INTRINSIC
RING 335 372 1.67e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149392
Predicted Effect probably benign
Transcript: ENSMUST00000154617
AA Change: M513V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: M513V

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 72,445,215 S155R probably damaging Het
Acss3 G T 10: 107,023,849 probably benign Het
Ano4 G A 10: 88,960,600 T680I probably benign Het
Drosha C T 15: 12,827,289 probably benign Het
Ehd3 A G 17: 73,827,489 D281G probably damaging Het
Exoc5 A G 14: 49,037,755 L196P probably damaging Het
Gal3st1 T C 11: 3,996,914 probably benign Het
Gart G A 16: 91,643,092 R4* probably null Het
Gm21738 T A 14: 19,417,361 T56S probably benign Het
Gm3573 T A 14: 42,187,566 I141L probably benign Het
Gpr6 A G 10: 41,071,151 M145T probably benign Het
Kcns3 T C 12: 11,092,426 M91V probably benign Het
Marc2 T G 1: 184,819,316 I308L probably benign Het
Mto1 A G 9: 78,461,643 K529R probably benign Het
Naip2 A T 13: 100,154,938 V1164D probably damaging Het
Olfr1053 A T 2: 86,314,944 I114N probably damaging Het
Olfr695 T C 7: 106,874,253 probably benign Het
Plekha1 T C 7: 130,902,254 probably benign Het
Psg26 T C 7: 18,478,330 S367G possibly damaging Het
Slitrk3 C T 3: 73,049,273 G722D probably benign Het
Sssca1 A G 19: 5,731,265 S78P probably damaging Het
Stag1 A G 9: 100,945,933 E1005G probably benign Het
Tgfbr2 A T 9: 116,129,980 L122Q possibly damaging Het
Traf2 G A 2: 25,520,438 R400* probably null Het
Trim33 C T 3: 103,346,715 Q153* probably null Het
Zmynd15 T C 11: 70,465,916 Y551H probably damaging Het
Other mutations in Rps6kb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2013-06-28