Incidental Mutation 'U24488:Rps6ka4'
ID 509911
Institutional Source Beutler Lab
Gene Symbol Rps6ka4
Ensembl Gene ENSMUSG00000024952
Gene Name ribosomal protein S6 kinase, polypeptide 4
Synonyms 90kDa, MSK2, 1110069D02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # U24488 (G0')
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6809724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 367 (L367P)
Ref Sequence ENSEMBL: ENSMUSP00000131581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025903] [ENSMUST00000170516]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025903
AA Change: L367P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: L367P

DomainStartEndE-ValueType
S_TKc 33 301 1.93e-98 SMART
S_TK_X 302 363 5.72e-14 SMART
low complexity region 381 395 N/A INTRINSIC
S_TKc 411 674 1.15e-87 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170516
AA Change: L367P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: L367P

DomainStartEndE-ValueType
S_TKc 33 301 1.93e-98 SMART
S_TK_X 302 363 5.72e-14 SMART
low complexity region 381 395 N/A INTRINSIC
S_TKc 411 674 1.15e-87 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199140
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
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 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: No phenotypic information associated with mutations in this gene have been reported. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,580,772 (GRCm39) Y922C probably damaging Het
Arhgef40 A G 14: 52,235,673 (GRCm39) T1185A probably benign Het
Atf7ip2 A G 16: 10,022,537 (GRCm39) N72S probably damaging Het
Carmil3 A G 14: 55,734,636 (GRCm39) D455G probably benign Het
Ccdc171 A T 4: 83,579,954 (GRCm39) E567V probably damaging Het
Chmp1b T A 18: 67,338,945 (GRCm39) L125Q probably damaging Het
Cnr1 T A 4: 33,944,927 (GRCm39) N438K probably benign Het
Cplane1 G T 15: 8,211,694 (GRCm39) G345C probably damaging Het
Csmd3 G A 15: 47,573,795 (GRCm39) T2091M probably damaging Het
Cyp4a29 A T 4: 115,108,204 (GRCm39) H342L possibly damaging Het
Dnah10 G A 5: 124,891,044 (GRCm39) D3212N probably damaging Het
Dnah2 G A 11: 69,374,648 (GRCm39) T1447I probably damaging Het
F11 A G 8: 45,695,349 (GRCm39) S540P probably benign Het
Fcrl6 T A 1: 172,426,437 (GRCm39) H120L probably damaging Het
Frmd6 T C 12: 70,940,653 (GRCm39) S433P probably damaging Het
Fundc1 G T X: 17,434,342 (GRCm39) A64E probably damaging Het
Garin2 A T 12: 78,761,811 (GRCm39) K158N probably damaging Het
Grid1 A G 14: 35,302,534 (GRCm39) E933G probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hoxb3 C A 11: 96,235,456 (GRCm39) Q128K probably benign Het
Il6st C T 13: 112,631,168 (GRCm39) T369M possibly damaging Het
Itk A C 11: 46,228,971 (GRCm39) M403R probably damaging Het
Katnip A T 7: 125,369,853 (GRCm39) D147V probably damaging Het
Kif2c T C 4: 117,039,639 (GRCm39) Q17R probably benign Het
Kifap3 T C 1: 163,610,604 (GRCm39) I28T possibly damaging Het
Kit A T 5: 75,783,674 (GRCm39) R384* probably null Het
Ksr1 T A 11: 78,938,267 (GRCm39) I42F probably damaging Het
Lhcgr T A 17: 89,079,513 (GRCm39) probably null Het
Lrrc36 C T 8: 106,176,384 (GRCm39) H253Y probably benign Het
Mad1l1 T A 5: 140,300,840 (GRCm39) N19Y probably damaging Het
Marf1 A T 16: 13,950,230 (GRCm39) L1022* probably null Het
Mical3 T G 6: 120,978,457 (GRCm39) Q225P possibly damaging Het
Minar1 C A 9: 89,485,100 (GRCm39) G99V probably damaging Het
Myt1l T A 12: 29,876,895 (GRCm39) M182K unknown Het
Nepro A G 16: 44,554,949 (GRCm39) T342A probably benign Het
Nlrp5 A T 7: 23,117,653 (GRCm39) D459V possibly damaging Het
Nrcam C T 12: 44,584,042 (GRCm39) P39S probably damaging Het
Or2ag1b A T 7: 106,288,296 (GRCm39) I214N probably damaging Het
Ostm1 A G 10: 42,555,227 (GRCm39) D83G possibly damaging Het
Otoa A T 7: 120,717,763 (GRCm39) probably null Het
Pi4ka A G 16: 17,143,040 (GRCm39) I824T probably damaging Het
Plec C T 15: 76,061,930 (GRCm39) R2534H probably benign Het
Plin2 A G 4: 86,580,314 (GRCm39) V60A probably damaging Het
Senp7 A G 16: 56,005,182 (GRCm39) N912D probably damaging Het
Slc25a21 G T 12: 56,785,282 (GRCm39) N198K possibly damaging Het
Slc4a10 A G 2: 61,877,002 (GRCm39) D5G probably benign Het
Tex16 T C X: 111,028,815 (GRCm39) V438A probably benign Het
Tmem37 T C 1: 119,995,684 (GRCm39) Y131C probably benign Het
Top2a A C 11: 98,913,252 (GRCm39) M60R probably damaging Het
Ush2a C T 1: 188,162,963 (GRCm39) T1015I probably damaging Het
Vmn1r172 A T 7: 23,359,171 (GRCm39) I19F probably benign Het
Vmn1r230 A C 17: 21,067,014 (GRCm39) I68L probably benign Het
Vmn2r45 A C 7: 8,475,361 (GRCm39) C556G probably damaging Het
Vmn2r54 A G 7: 12,349,356 (GRCm39) I742T possibly damaging Het
Vps13c A G 9: 67,813,198 (GRCm39) K960E probably benign Het
Wdcp T A 12: 4,900,405 (GRCm39) V87E probably damaging Het
Wiz C T 17: 32,606,649 (GRCm39) E29K probably damaging Het
Wnk3 C T X: 149,992,456 (GRCm39) T298I probably damaging Het
Yif1b A C 7: 28,943,594 (GRCm39) Q56P probably benign Het
Zbtb25 A G 12: 76,396,014 (GRCm39) W403R probably benign Het
Zcrb1 A T 15: 93,285,515 (GRCm39) S155R probably damaging Het
Zmym4 A T 4: 126,819,453 (GRCm39) I150K possibly damaging Het
Other mutations in Rps6ka4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Rps6ka4 APN 19 6,808,496 (GRCm39) missense probably damaging 1.00
IGL01548:Rps6ka4 APN 19 6,809,691 (GRCm39) missense probably benign 0.02
IGL02536:Rps6ka4 APN 19 6,809,439 (GRCm39) missense probably damaging 1.00
IGL02902:Rps6ka4 APN 19 6,809,623 (GRCm39) critical splice donor site probably null
IGL03299:Rps6ka4 APN 19 6,809,615 (GRCm39) splice site probably benign
R0510:Rps6ka4 UTSW 19 6,817,866 (GRCm39) missense probably benign 0.13
R1104:Rps6ka4 UTSW 19 6,808,364 (GRCm39) missense probably damaging 1.00
R1620:Rps6ka4 UTSW 19 6,815,517 (GRCm39) missense probably damaging 1.00
R1647:Rps6ka4 UTSW 19 6,816,730 (GRCm39) missense probably benign 0.15
R1648:Rps6ka4 UTSW 19 6,816,730 (GRCm39) missense probably benign 0.15
R1939:Rps6ka4 UTSW 19 6,816,834 (GRCm39) missense probably damaging 1.00
R2370:Rps6ka4 UTSW 19 6,807,468 (GRCm39) missense possibly damaging 0.93
R2412:Rps6ka4 UTSW 19 6,807,309 (GRCm39) makesense probably null
R2571:Rps6ka4 UTSW 19 6,815,471 (GRCm39) missense probably damaging 1.00
R2698:Rps6ka4 UTSW 19 6,814,720 (GRCm39) missense probably benign 0.08
R3427:Rps6ka4 UTSW 19 6,815,123 (GRCm39) critical splice donor site probably null
R3721:Rps6ka4 UTSW 19 6,816,645 (GRCm39) missense possibly damaging 0.73
R3844:Rps6ka4 UTSW 19 6,815,171 (GRCm39) nonsense probably null
R4092:Rps6ka4 UTSW 19 6,809,623 (GRCm39) critical splice donor site probably null
R4169:Rps6ka4 UTSW 19 6,809,188 (GRCm39) missense possibly damaging 0.92
R4677:Rps6ka4 UTSW 19 6,816,854 (GRCm39) missense probably damaging 1.00
R4897:Rps6ka4 UTSW 19 6,815,467 (GRCm39) missense probably benign 0.02
R4975:Rps6ka4 UTSW 19 6,817,678 (GRCm39) splice site probably null
R5631:Rps6ka4 UTSW 19 6,808,345 (GRCm39) splice site probably benign
R6462:Rps6ka4 UTSW 19 6,814,957 (GRCm39) missense possibly damaging 0.90
R6643:Rps6ka4 UTSW 19 6,809,731 (GRCm39) missense probably damaging 1.00
R6939:Rps6ka4 UTSW 19 6,815,437 (GRCm39) missense probably damaging 1.00
R7030:Rps6ka4 UTSW 19 6,816,992 (GRCm39) missense probably damaging 1.00
R7902:Rps6ka4 UTSW 19 6,808,679 (GRCm39) missense possibly damaging 0.81
R8021:Rps6ka4 UTSW 19 6,807,777 (GRCm39) missense probably benign 0.01
R8166:Rps6ka4 UTSW 19 6,814,811 (GRCm39) missense possibly damaging 0.78
R8988:Rps6ka4 UTSW 19 6,808,667 (GRCm39) missense possibly damaging 0.58
R9481:Rps6ka4 UTSW 19 6,809,372 (GRCm39) missense possibly damaging 0.62
R9664:Rps6ka4 UTSW 19 6,809,354 (GRCm39) missense possibly damaging 0.95
R9723:Rps6ka4 UTSW 19 6,816,663 (GRCm39) missense probably damaging 0.99
X0019:Rps6ka4 UTSW 19 6,815,508 (GRCm39) missense probably damaging 0.97
X0027:Rps6ka4 UTSW 19 6,815,140 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- TATGAGTGGCCCTGTCATGG -3'
(R):5'- TGGCCCCAAGTAATCATAAACAGG -3'

Sequencing Primer
(F):5'- CAGCAACCGGTGGAACTG -3'
(R):5'- GGTAGGATAAGATGTGTCCACAC -3'
Posted On 2018-04-02