Incidental Mutation 'R1883:Rps6ka1'
ID209230
Institutional Source Beutler Lab
Gene Symbol Rps6ka1
Ensembl Gene ENSMUSG00000003644
Gene Nameribosomal protein S6 kinase polypeptide 1
SynonymsRsk1
MMRRC Submission 039904-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1883 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location133847290-133887797 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 133864043 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 299 (I299S)
Ref Sequence ENSEMBL: ENSMUSP00000126774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003741] [ENSMUST00000105894] [ENSMUST00000137486] [ENSMUST00000157067] [ENSMUST00000168974] [ENSMUST00000174481]
Predicted Effect probably damaging
Transcript: ENSMUST00000003741
AA Change: I304S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: I304S

DomainStartEndE-ValueType
S_TKc 62 310 9.36e-88 SMART
S_TK_X 311 372 7.03e-23 SMART
S_TKc 407 664 1.05e-104 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105894
AA Change: I315S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: I315S

DomainStartEndE-ValueType
S_TKc 62 321 6.4e-104 SMART
S_TK_X 322 383 7.03e-23 SMART
S_TKc 418 675 1.05e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129636
Predicted Effect probably damaging
Transcript: ENSMUST00000137486
AA Change: I321S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: I321S

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
low complexity region 32 38 N/A INTRINSIC
S_TKc 68 327 6.4e-104 SMART
S_TK_X 328 389 7.03e-23 SMART
S_TKc 424 681 1.05e-104 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000157067
AA Change: I316S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: I316S

DomainStartEndE-ValueType
low complexity region 21 31 N/A INTRINSIC
S_TKc 63 322 6.4e-104 SMART
S_TK_X 323 384 7.03e-23 SMART
S_TKc 419 676 1.05e-104 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168974
AA Change: I299S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: I299S

DomainStartEndE-ValueType
S_TKc 46 305 6.4e-104 SMART
S_TK_X 306 367 7.03e-23 SMART
S_TKc 402 659 1.05e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173989
Predicted Effect possibly damaging
Transcript: ENSMUST00000174481
AA Change: I205S

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: I205S

DomainStartEndE-ValueType
S_TKc 1 211 2.13e-68 SMART
S_TK_X 212 273 7.03e-23 SMART
S_TKc 308 565 1.05e-104 SMART
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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 RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T C 6: 50,574,453 T339A probably benign Het
Ano9 T C 7: 141,102,331 E677G probably benign Het
Auh G A 13: 52,835,496 P308L probably benign Het
Brs3 T C X: 57,047,089 I311T probably benign Het
Capn9 A G 8: 124,611,558 K552R probably benign Het
Catsperg1 C T 7: 29,182,236 probably null Het
Cdc16 A G 8: 13,775,738 N449D probably damaging Het
Cdyl2 A T 8: 116,595,163 N208K probably damaging Het
Cnot4 C T 6: 35,078,157 V66I probably damaging Het
Cntn4 A G 6: 106,679,392 T885A probably benign Het
Col20a1 C T 2: 180,992,910 T131I possibly damaging Het
Crybg2 C A 4: 134,074,283 S918* probably null Het
Dact2 A T 17: 14,197,823 S207T possibly damaging Het
Dbnl G A 11: 5,799,247 G356E probably benign Het
Ddx18 C A 1: 121,567,916 probably benign Het
Dis3 A T 14: 99,091,469 H282Q probably benign Het
Dnah3 T C 7: 120,077,919 D453G probably benign Het
Dst T C 1: 34,189,308 V1994A possibly damaging Het
Dusp8 C T 7: 142,084,348 probably null Het
Eipr1 A T 12: 28,766,851 H69L possibly damaging Het
Eml1 A G 12: 108,463,652 R65G probably damaging Het
Epha7 C T 4: 28,950,362 H722Y possibly damaging Het
Epyc A T 10: 97,675,833 K229N possibly damaging Het
Extl1 A G 4: 134,364,606 I312T probably benign Het
F13a1 G C 13: 36,989,007 A133G probably benign Het
Fam185a G T 5: 21,425,244 C26F possibly damaging Het
Fam186b T C 15: 99,278,798 N737S probably damaging Het
Fam78b A G 1: 167,001,602 I13V probably benign Het
Fat1 A T 8: 45,051,147 Q4559L probably benign Het
Fnip1 T C 11: 54,515,547 S1157P probably damaging Het
Foxj3 A C 4: 119,610,029 M190L probably benign Het
Gm5096 T C 18: 87,756,545 L64P probably damaging Het
Heatr3 T C 8: 88,144,593 Y192H possibly damaging Het
Hexdc T A 11: 121,207,698 S3T probably benign Het
Klf3 C T 5: 64,822,881 P5S probably damaging Het
Klf9 C T 19: 23,164,737 S187L probably damaging Het
Krt9 T C 11: 100,188,697 H623R unknown Het
Krtap2-4 G C 11: 99,614,679 probably benign Het
Lmtk3 T C 7: 45,786,849 Y84H probably damaging Het
Mroh3 G T 1: 136,206,993 A166D probably damaging Het
Musk C A 4: 58,373,189 P697T probably benign Het
Nek9 A G 12: 85,332,556 L192P probably damaging Het
Nipbl A C 15: 8,327,132 F1590C probably damaging Het
Nrk G T X: 139,007,173 V1455F probably damaging Het
Nsun3 T C 16: 62,735,293 D290G probably damaging Het
Obscn T C 11: 59,078,203 T222A probably damaging Het
Olfr446 T C 6: 42,927,830 S200P probably damaging Het
Olfr583 T C 7: 103,051,982 I228T probably benign Het
Olfr6 T C 7: 106,956,774 H54R probably benign Het
Osbpl11 T G 16: 33,214,353 H237Q probably benign Het
Pde10a A T 17: 8,978,944 T671S possibly damaging Het
Pkd2 A T 5: 104,483,228 N506I probably damaging Het
Ppp3cb A G 14: 20,523,845 V274A possibly damaging Het
Prex1 T C 2: 166,583,272 D938G probably benign Het
Ptch1 G A 13: 63,512,027 Q1134* probably null Het
Rasgrf2 A G 13: 91,969,030 V820A probably benign Het
Rimbp2 C T 5: 128,803,934 V137M possibly damaging Het
Rpa1 A G 11: 75,318,483 V137A probably benign Het
Scn3b A C 9: 40,279,373 probably null Het
Sdha A T 13: 74,333,136 I317N probably damaging Het
Serpina1d T A 12: 103,765,778 D274V possibly damaging Het
Sik3 C G 9: 46,221,089 H1276Q probably benign Het
Snx14 T A 9: 88,402,261 E451D probably benign Het
Swt1 T A 1: 151,423,533 K8* probably null Het
Tas1r3 G T 4: 155,862,153 P332T probably damaging Het
Tas2r126 A T 6: 42,435,027 T165S probably benign Het
Tecpr1 A G 5: 144,206,529 V676A probably benign Het
Tg A G 15: 66,671,309 E24G probably damaging Het
Tlr7 C T X: 167,306,472 G673S probably benign Het
Tnxb T A 17: 34,689,565 D1520E probably benign Het
Trabd A G 15: 89,081,981 E47G probably damaging Het
Trim29 T A 9: 43,311,405 I177N probably damaging Het
Ubxn2a A T 12: 4,894,563 L53* probably null Het
Ulk2 A G 11: 61,830,612 L208P probably damaging Het
Unc80 G A 1: 66,525,770 C872Y possibly damaging Het
Vac14 A G 8: 110,711,687 H644R probably damaging Het
Vmn1r20 C A 6: 57,432,321 H211N probably benign Het
Vmn1r31 C T 6: 58,472,044 V279I probably damaging Het
Vmn2r18 G T 5: 151,575,725 Q425K probably benign Het
Vmn2r60 T C 7: 42,136,670 V299A probably damaging Het
Vps54 A T 11: 21,312,967 T685S possibly damaging Het
Vwa5b1 A G 4: 138,575,389 W932R probably damaging Het
Wdr53 A T 16: 32,256,498 I174F possibly damaging Het
Zfp157 A G 5: 138,444,840 D31G probably damaging Het
Zfp60 T C 7: 27,750,010 L701P probably benign Het
Zfp609 A T 9: 65,794,758 M204K probably benign Het
Zfp831 A G 2: 174,704,077 H1325R possibly damaging Het
Zfp995 A T 17: 21,880,641 I204N probably benign Het
Zp2 C T 7: 120,133,401 D641N probably benign Het
Other mutations in Rps6ka1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Rps6ka1 APN 4 133860870 missense probably damaging 0.99
IGL01388:Rps6ka1 APN 4 133871964 missense probably damaging 0.96
IGL02314:Rps6ka1 APN 4 133850754 missense probably damaging 1.00
IGL02803:Rps6ka1 APN 4 133880954 missense probably benign 0.01
IGL02902:Rps6ka1 APN 4 133871981 missense possibly damaging 0.82
IGL02945:Rps6ka1 APN 4 133867199 missense probably damaging 1.00
R0240:Rps6ka1 UTSW 4 133848531 missense probably benign 0.00
R0240:Rps6ka1 UTSW 4 133848531 missense probably benign 0.00
R1512:Rps6ka1 UTSW 4 133851004 missense probably damaging 0.99
R1732:Rps6ka1 UTSW 4 133860070 missense probably damaging 1.00
R2086:Rps6ka1 UTSW 4 133872969 start codon destroyed probably null
R2571:Rps6ka1 UTSW 4 133860612 splice site probably null
R4764:Rps6ka1 UTSW 4 133860557 missense probably damaging 1.00
R5209:Rps6ka1 UTSW 4 133865818 missense probably damaging 1.00
R5544:Rps6ka1 UTSW 4 133872015 missense probably benign 0.07
R5930:Rps6ka1 UTSW 4 133871571 missense probably damaging 0.99
R5990:Rps6ka1 UTSW 4 133866397 missense probably damaging 1.00
R6211:Rps6ka1 UTSW 4 133869306 missense probably damaging 0.96
R6254:Rps6ka1 UTSW 4 133867224 missense possibly damaging 0.87
R7070:Rps6ka1 UTSW 4 133861448 missense probably benign
R7134:Rps6ka1 UTSW 4 133872062 missense probably benign
X0020:Rps6ka1 UTSW 4 133867165 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCTCAGTGGATAACAGCAAG -3'
(R):5'- GCAGAAGCTCCGTAACATAGG -3'

Sequencing Primer
(F):5'- CAAGGGAGAGCAGCCTTC -3'
(R):5'- CTCCGTAACATAGGAAATACTGAGCG -3'
Posted On2014-06-30