Incidental Mutation 'R5631:Rps6ka4'
ID 439884
Institutional Source Beutler Lab
Gene Symbol Rps6ka4
Ensembl Gene ENSMUSG00000024952
Gene Name ribosomal protein S6 kinase, polypeptide 4
Synonyms 90kDa, MSK2, 1110069D02Rik
MMRRC Submission 043282-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R5631 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 6808345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025903] [ENSMUST00000025903] [ENSMUST00000025903] [ENSMUST00000170516] [ENSMUST00000170516] [ENSMUST00000170516]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025903
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952

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 benign
Transcript: ENSMUST00000025903
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952

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 benign
Transcript: ENSMUST00000025903
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952

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 benign
Transcript: ENSMUST00000170516
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952

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 benign
Transcript: ENSMUST00000170516
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952

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 benign
Transcript: ENSMUST00000170516
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,067,590 (GRCm39) V567L possibly damaging Het
Abraxas1 T G 5: 100,965,840 (GRCm39) Y68S probably damaging Het
Adamtsl1 C T 4: 86,195,160 (GRCm39) Q543* probably null Het
Anapc1 T C 2: 128,499,137 (GRCm39) Y845C possibly damaging Het
Ap4m1 A G 5: 138,173,051 (GRCm39) *98W probably null Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cramp1 T A 17: 25,204,577 (GRCm39) T275S possibly damaging Het
Dock3 T C 9: 106,832,898 (GRCm39) S1038G probably benign Het
Fancm T C 12: 65,160,617 (GRCm39) V1397A probably damaging Het
Fn1 T C 1: 71,629,355 (GRCm39) T2203A probably damaging Het
Gm57858 G C 3: 36,101,026 (GRCm39) Q49E probably damaging Het
Heatr5a T A 12: 52,002,310 (GRCm39) I209F probably benign Het
Hfm1 A G 5: 107,052,629 (GRCm39) S285P probably damaging Het
Hpx A T 7: 105,244,808 (GRCm39) C126S probably damaging Het
Ipo4 A G 14: 55,869,526 (GRCm39) V378A probably damaging Het
Ipo4 C T 14: 55,870,838 (GRCm39) V265I probably benign Het
Kcnv1 T A 15: 44,972,753 (GRCm39) T377S probably damaging Het
Kmt2a A T 9: 44,731,985 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,900,301 (GRCm39) D67G probably damaging Het
Lrrc71 T A 3: 87,646,456 (GRCm39) M535L probably benign Het
Mfhas1 G A 8: 36,055,573 (GRCm39) R16Q probably damaging Het
Mrc1 A T 2: 14,333,383 (GRCm39) K1355* probably null Het
Mrgprf A G 7: 144,862,283 (GRCm39) I282V probably benign Het
Mvb12b G T 2: 33,717,715 (GRCm39) P142Q probably damaging Het
Naip6 T C 13: 100,436,646 (GRCm39) I626V probably benign Het
Ncoa5 T C 2: 164,855,041 (GRCm39) D27G possibly damaging Het
Nrap T G 19: 56,342,553 (GRCm39) E780A probably benign Het
Oplah T C 15: 76,189,441 (GRCm39) I228V probably benign Het
Or5w1b A T 2: 87,475,952 (GRCm39) S172T probably benign Het
Pkdrej T C 15: 85,704,638 (GRCm39) M433V probably benign Het
Polr3h T A 15: 81,810,113 (GRCm39) probably benign Het
Ppfibp1 T C 6: 146,898,358 (GRCm39) Y105H probably damaging Het
Rplp2 A C 7: 141,031,172 (GRCm39) probably benign Het
Rspry1 A T 8: 95,355,706 (GRCm39) M1L possibly damaging Het
Runx1 C A 16: 92,492,451 (GRCm39) R64L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc9a5 C T 8: 106,076,141 (GRCm39) H45Y possibly damaging Het
Smc4 T C 3: 68,937,645 (GRCm39) I890T probably benign Het
Smtnl1 T C 2: 84,649,098 (GRCm39) E52G probably benign Het
Stag3 T A 5: 138,294,139 (GRCm39) I319N probably damaging Het
Stt3b G A 9: 115,083,913 (GRCm39) T421I probably benign Het
Thumpd1 A G 7: 119,319,825 (GRCm39) L47P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b T C 14: 16,409,882 (GRCm38) Y850H probably damaging Het
Trim34a A T 7: 103,897,946 (GRCm39) E158V probably damaging Het
Trp53i13 C A 11: 77,400,419 (GRCm39) probably null Het
Ugt3a1 T C 15: 9,361,971 (GRCm39) V249A probably damaging Het
Vmn1r128 G A 7: 21,083,300 (GRCm39) M1I probably null Het
Yars1 T G 4: 129,103,542 (GRCm39) L297R probably damaging Het
Yju2b G T 8: 84,990,510 (GRCm39) Q41K probably damaging Het
Zkscan3 A G 13: 21,578,703 (GRCm39) L176P probably 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
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
U24488:Rps6ka4 UTSW 19 6,809,724 (GRCm39) missense probably damaging 1.00
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'- CCAGACAGCATCATGTACTAGGAG -3'
(R):5'- GATCATCGACTTCGGGTTCG -3'

Sequencing Primer
(F):5'- GCAGGCTGCATCCTCAC -3'
(R):5'- AGACTCCTTGCTTCACAC -3'
Posted On 2016-11-08