Incidental Mutation 'R6254:Rps6ka1'
ID 505965
Institutional Source Beutler Lab
Gene Symbol Rps6ka1
Ensembl Gene ENSMUSG00000003644
Gene Name ribosomal protein S6 kinase polypeptide 1
Synonyms Rsk1
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 133574601-133615108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133594535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 159 (M159I)
Ref Sequence ENSEMBL: ENSMUSP00000121341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003741] [ENSMUST00000105894] [ENSMUST00000137486] [ENSMUST00000157067] [ENSMUST00000168974] [ENSMUST00000174481]
AlphaFold P18653
Predicted Effect possibly damaging
Transcript: ENSMUST00000003741
AA Change: M158I

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: M158I

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 possibly damaging
Transcript: ENSMUST00000105894
AA Change: M158I

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: M158I

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: ENSMUST00000133742
Predicted Effect probably benign
Transcript: ENSMUST00000137486
AA Change: M164I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: M164I

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 possibly damaging
Transcript: ENSMUST00000157067
AA Change: M159I

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: M159I

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 benign
Transcript: ENSMUST00000168974
AA Change: M142I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: M142I

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 probably benign
Transcript: ENSMUST00000174481
AA Change: M48I

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: M48I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173961
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L probably damaging Het
Other mutations in Rps6ka1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Rps6ka1 APN 4 133,588,181 (GRCm39) missense probably damaging 0.99
IGL01388:Rps6ka1 APN 4 133,599,275 (GRCm39) missense probably damaging 0.96
IGL02314:Rps6ka1 APN 4 133,578,065 (GRCm39) missense probably damaging 1.00
IGL02803:Rps6ka1 APN 4 133,608,265 (GRCm39) missense probably benign 0.01
IGL02902:Rps6ka1 APN 4 133,599,292 (GRCm39) missense possibly damaging 0.82
IGL02945:Rps6ka1 APN 4 133,594,510 (GRCm39) missense probably damaging 1.00
R0240:Rps6ka1 UTSW 4 133,575,842 (GRCm39) missense probably benign 0.00
R0240:Rps6ka1 UTSW 4 133,575,842 (GRCm39) missense probably benign 0.00
R1512:Rps6ka1 UTSW 4 133,578,315 (GRCm39) missense probably damaging 0.99
R1732:Rps6ka1 UTSW 4 133,587,381 (GRCm39) missense probably damaging 1.00
R1883:Rps6ka1 UTSW 4 133,591,354 (GRCm39) missense probably damaging 1.00
R2086:Rps6ka1 UTSW 4 133,600,280 (GRCm39) start codon destroyed probably null
R2571:Rps6ka1 UTSW 4 133,587,923 (GRCm39) splice site probably null
R4764:Rps6ka1 UTSW 4 133,587,868 (GRCm39) missense probably damaging 1.00
R5209:Rps6ka1 UTSW 4 133,593,129 (GRCm39) missense probably damaging 1.00
R5544:Rps6ka1 UTSW 4 133,599,326 (GRCm39) missense probably benign 0.07
R5930:Rps6ka1 UTSW 4 133,598,882 (GRCm39) missense probably damaging 0.99
R5990:Rps6ka1 UTSW 4 133,593,708 (GRCm39) missense probably damaging 1.00
R6211:Rps6ka1 UTSW 4 133,596,617 (GRCm39) missense probably damaging 0.96
R7070:Rps6ka1 UTSW 4 133,588,759 (GRCm39) missense probably benign
R7134:Rps6ka1 UTSW 4 133,599,373 (GRCm39) missense probably benign
R8023:Rps6ka1 UTSW 4 133,594,506 (GRCm39) missense probably damaging 1.00
R8197:Rps6ka1 UTSW 4 133,592,673 (GRCm39) missense possibly damaging 0.95
R8266:Rps6ka1 UTSW 4 133,590,995 (GRCm39) missense probably damaging 1.00
R8354:Rps6ka1 UTSW 4 133,575,864 (GRCm39) missense probably benign 0.44
R8356:Rps6ka1 UTSW 4 133,587,368 (GRCm39) missense possibly damaging 0.70
R8391:Rps6ka1 UTSW 4 133,591,346 (GRCm39) missense probably damaging 0.96
R8454:Rps6ka1 UTSW 4 133,575,864 (GRCm39) missense probably benign 0.44
R8961:Rps6ka1 UTSW 4 133,587,362 (GRCm39) critical splice donor site probably null
R9045:Rps6ka1 UTSW 4 133,600,150 (GRCm39) intron probably benign
R9354:Rps6ka1 UTSW 4 133,594,432 (GRCm39) critical splice donor site probably null
R9429:Rps6ka1 UTSW 4 133,598,900 (GRCm39) missense probably damaging 0.99
R9436:Rps6ka1 UTSW 4 133,575,963 (GRCm39) missense probably damaging 1.00
X0020:Rps6ka1 UTSW 4 133,594,476 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGACAGCCCCAAAGAGAG -3'
(R):5'- TTGCTGTTTCCAAGCTGTAGC -3'

Sequencing Primer
(F):5'- ATAAATTCCTGGGAGCGCC -3'
(R):5'- CTGTAGCGCAGGGAGTGAC -3'
Posted On 2018-02-28