Incidental Mutation 'IGL02314:Rps6ka1'
ID 287930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6ka1
Ensembl Gene ENSMUSG00000003644
Gene Name ribosomal protein S6 kinase polypeptide 1
Synonyms Rsk1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02314
Quality Score
Status
Chromosome 4
Chromosomal Location 133574601-133615108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 133578065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 522 (G522W)
Ref Sequence ENSEMBL: ENSMUSP00000134507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003741] [ENSMUST00000105894] [ENSMUST00000137486] [ENSMUST00000157067] [ENSMUST00000168974] [ENSMUST00000174481]
AlphaFold P18653
Predicted Effect probably damaging
Transcript: ENSMUST00000003741
AA Change: G621W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: G621W

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: G632W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: G632W

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 probably damaging
Transcript: ENSMUST00000137486
AA Change: G638W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: G638W

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: G633W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: G633W

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: G616W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: G616W

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 probably damaging
Transcript: ENSMUST00000174481
AA Change: G522W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: G522W

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
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T A 4: 47,472,143 (GRCm39) K94* probably null Het
Axl A G 7: 25,486,345 (GRCm39) F120L possibly damaging Het
Baz2b A G 2: 59,792,571 (GRCm39) V519A probably benign Het
Cdk2 A T 10: 128,539,595 (GRCm39) I99N probably damaging Het
Ces1b C A 8: 93,791,524 (GRCm39) W358C possibly damaging Het
Cimap1b T G 15: 89,262,372 (GRCm39) K82N probably damaging Het
Clca3b A G 3: 144,533,903 (GRCm39) probably benign Het
Col6a4 T G 9: 105,874,355 (GRCm39) T2211P probably damaging Het
Cyp4f14 C T 17: 33,125,265 (GRCm39) E438K probably benign Het
Dpy19l4 T A 4: 11,267,720 (GRCm39) T407S possibly damaging Het
Dtx3 G A 10: 127,026,828 (GRCm39) probably benign Het
Eif1ad14 T A 12: 87,886,377 (GRCm39) Y84F probably benign Het
Fat3 A T 9: 15,881,134 (GRCm39) L3246H possibly damaging Het
Fat4 A T 3: 38,941,779 (GRCm39) D224V probably damaging Het
Fndc9 A T 11: 46,129,122 (GRCm39) I214F probably benign Het
Foxred1 A T 9: 35,117,264 (GRCm39) I22N probably damaging Het
Gkn1 T C 6: 87,326,103 (GRCm39) D29G probably benign Het
Gng11 T A 6: 4,004,317 (GRCm39) M1K probably null Het
Hdac7 T C 15: 97,706,885 (GRCm39) D237G probably damaging Het
Hgf A G 5: 16,777,600 (GRCm39) Y199C probably damaging Het
Hgfac A T 5: 35,198,941 (GRCm39) M1L probably benign Het
Hsd17b6 T C 10: 127,833,777 (GRCm39) T35A probably damaging Het
Htr3a G A 9: 48,815,927 (GRCm39) P170L probably damaging Het
Ighv12-3 A G 12: 114,330,421 (GRCm39) S25P probably damaging Het
Jph2 A T 2: 163,239,273 (GRCm39) N58K probably damaging Het
Lama5 A G 2: 179,836,275 (GRCm39) probably benign Het
Lpin3 T A 2: 160,740,638 (GRCm39) Y394* probably null Het
Macf1 G T 4: 123,338,630 (GRCm39) T2248K probably damaging Het
Map3k2 A G 18: 32,351,553 (GRCm39) probably benign Het
Map4k5 G A 12: 69,865,213 (GRCm39) P524S probably benign Het
Mcf2l C T 8: 13,051,851 (GRCm39) S359L probably damaging Het
Mdh1b C T 1: 63,750,273 (GRCm39) probably null Het
Mfhas1 G A 8: 36,055,927 (GRCm39) R134H probably damaging Het
Mogs A G 6: 83,095,036 (GRCm39) T618A probably benign Het
Mybpc2 T A 7: 44,171,812 (GRCm39) Q39H possibly damaging Het
Myoc C T 1: 162,466,917 (GRCm39) R29W probably damaging Het
Nae1 A G 8: 105,252,938 (GRCm39) M162T probably damaging Het
Nfatc3 A G 8: 106,805,532 (GRCm39) I126V probably benign Het
Nxnl2 C A 13: 51,325,565 (GRCm39) F69L probably benign Het
Oca2 T A 7: 56,006,899 (GRCm39) I662N probably benign Het
Or52b3 A T 7: 102,204,318 (GRCm39) I276F probably damaging Het
Or5w8 A G 2: 87,688,400 (GRCm39) N294D probably damaging Het
Or7c70 A T 10: 78,683,099 (GRCm39) S217T probably damaging Het
Or7e176 A T 9: 20,171,774 (GRCm39) I213L probably benign Het
Pcdhb14 G A 18: 37,583,248 (GRCm39) E785K probably benign Het
Plb1 A C 5: 32,438,492 (GRCm39) Y209S possibly damaging Het
Pramel24 T C 4: 143,455,012 (GRCm39) S437P probably benign Het
Rab44 C A 17: 29,358,327 (GRCm39) Q172K probably benign Het
Rnf214 A T 9: 45,811,105 (GRCm39) V186E probably benign Het
Samhd1 G T 2: 156,976,948 (GRCm39) T21K probably damaging Het
Scly A G 1: 91,246,763 (GRCm39) Y358C probably benign Het
Sfxn2 A G 19: 46,571,026 (GRCm39) N29D possibly damaging Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slc44a5 G A 3: 153,962,156 (GRCm39) S363N probably damaging Het
Smg1 A G 7: 117,753,932 (GRCm39) probably benign Het
Tas1r3 A T 4: 155,945,119 (GRCm39) C701S probably damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Trmt6 G A 2: 132,647,378 (GRCm39) A486V probably benign Het
Ttn G A 2: 76,727,091 (GRCm39) R1602* probably null Het
Ush2a A G 1: 188,365,826 (GRCm39) M2227V probably benign Het
Vmn2r96 A T 17: 18,804,221 (GRCm39) Q490H probably benign Het
Wdr19 G T 5: 65,414,463 (GRCm39) A1279S probably benign Het
Zbtb7c G A 18: 76,278,937 (GRCm39) R465H probably damaging Het
Zfp473 T C 7: 44,383,353 (GRCm39) S326G probably benign 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
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
R6254:Rps6ka1 UTSW 4 133,594,535 (GRCm39) missense possibly damaging 0.87
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
Posted On 2015-04-16