Incidental Mutation 'IGL01060:Rps6ka1'
ID50826
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6ka1
Ensembl Gene ENSMUSG00000003644
Gene Nameribosomal protein S6 kinase polypeptide 1
SynonymsRsk1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01060
Quality Score
Status
Chromosome4
Chromosomal Location133847290-133887797 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133860870 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 320 (S320T)
Ref Sequence ENSEMBL: ENSMUSP00000134507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003741] [ENSMUST00000105894] [ENSMUST00000137486] [ENSMUST00000157067] [ENSMUST00000168974] [ENSMUST00000174481]
Predicted Effect probably damaging
Transcript: ENSMUST00000003741
AA Change: S419T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: S419T

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: S430T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: S430T

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: S436T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: S436T

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: S431T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: S431T

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: S414T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: S414T

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: S320T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: S320T

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Anks4b A G 7: 120,173,925 T3A possibly damaging Het
Arhgef26 T A 3: 62,340,121 S209T probably benign Het
Ccdc78 A G 17: 25,788,832 D281G probably damaging Het
Ccnb3 A T X: 6,980,274 N1362K probably benign Het
Dnah2 T C 11: 69,478,092 N1662S possibly damaging Het
Ern2 T A 7: 122,170,092 R904W probably damaging Het
Fam120c C T X: 151,469,587 P1045S probably benign Het
Gm12887 C T 4: 121,616,413 probably benign Het
Gpld1 G A 13: 24,982,566 G627S probably damaging Het
Ikbkap C T 4: 56,784,537 probably null Het
Krt77 T A 15: 101,860,880 probably benign Het
Ltf A T 9: 111,022,882 probably null Het
Map3k6 G T 4: 133,247,302 probably null Het
Nsd1 G A 13: 55,263,429 G1431D probably damaging Het
Plekhm2 C T 4: 141,642,645 probably null Het
Popdc2 T A 16: 38,373,965 N249K probably damaging Het
Ppm1h A G 10: 122,907,571 D400G possibly damaging Het
Rsph6a C T 7: 19,054,868 R42* probably null Het
Sap130 T C 18: 31,715,443 L967P probably damaging Het
Smyd2 T C 1: 189,897,470 E121G possibly damaging Het
Sspo G A 6: 48,449,479 W144* probably null Het
Taar6 A G 10: 23,985,072 V192A probably benign Het
Tbc1d24 A T 17: 24,185,828 V114E probably damaging Het
Trim16 T C 11: 62,820,704 I67T probably benign Het
Ttll7 A G 3: 146,909,582 D267G possibly damaging Het
Ttn T C 2: 76,889,729 probably benign Het
Vmn2r56 T A 7: 12,713,089 I379F probably damaging Het
Zfp14 T C 7: 30,038,085 T492A probably damaging Het
Other mutations in Rps6ka1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1883:Rps6ka1 UTSW 4 133864043 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
R8023:Rps6ka1 UTSW 4 133867195 missense probably damaging 1.00
R8197:Rps6ka1 UTSW 4 133865362 missense possibly damaging 0.95
R8266:Rps6ka1 UTSW 4 133863684 missense probably damaging 1.00
R8354:Rps6ka1 UTSW 4 133848553 missense probably benign 0.44
R8356:Rps6ka1 UTSW 4 133860057 missense possibly damaging 0.70
R8391:Rps6ka1 UTSW 4 133864035 missense probably damaging 0.96
R8454:Rps6ka1 UTSW 4 133848553 missense probably benign 0.44
X0020:Rps6ka1 UTSW 4 133867165 missense probably damaging 1.00
Posted On2013-06-21