Incidental Mutation 'R2370:Rps6ka4'
ID 247515
Institutional Source Beutler Lab
Gene Symbol Rps6ka4
Ensembl Gene ENSMUSG00000024952
Gene Name ribosomal protein S6 kinase, polypeptide 4
Synonyms 90kDa, MSK2, 1110069D02Rik
MMRRC Submission 040350-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R2370 (G1)
Quality Score 180
Status Not validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6807468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 721 (S721G)
Ref Sequence ENSEMBL: ENSMUSP00000131581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025903] [ENSMUST00000170516]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000025903
AA Change: S721G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: S721G

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 possibly damaging
Transcript: ENSMUST00000170516
AA Change: S721G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: S721G

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.8%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abca13 A G 11: 9,206,185 (GRCm39) T162A possibly damaging Het
Adamts9 T A 6: 92,837,184 (GRCm39) D578V probably damaging Het
Atp6v1a T C 16: 43,927,403 (GRCm39) T295A probably benign Het
Brinp1 A G 4: 68,681,184 (GRCm39) S449P probably damaging Het
Ccdc40 A G 11: 119,153,943 (GRCm39) T1072A probably benign Het
Chil4 C A 3: 106,121,616 (GRCm39) E78* probably null Het
Cul7 A G 17: 46,972,567 (GRCm39) Y1250C probably damaging Het
Dock3 T C 9: 106,829,554 (GRCm39) D1120G probably damaging Het
Gfod1 A G 13: 43,354,621 (GRCm39) M118T probably benign Het
Ints5 A G 19: 8,874,143 (GRCm39) T701A probably benign Het
Map4k2 G T 19: 6,391,958 (GRCm39) E91* probably null Het
Mast4 T A 13: 102,910,695 (GRCm39) E457D probably damaging Het
Mettl4 T C 17: 95,040,576 (GRCm39) D404G probably damaging Het
Mgat4a A G 1: 37,503,614 (GRCm39) F58L probably damaging Het
Myh4 A G 11: 67,146,454 (GRCm39) K1476E probably damaging Het
Myl7 T C 11: 5,846,684 (GRCm39) E175G probably damaging Het
Myo18a A G 11: 77,668,596 (GRCm39) E152G probably benign Het
Ncan G A 8: 70,565,463 (GRCm39) T187I probably benign Het
Nfatc3 A G 8: 106,835,087 (GRCm39) Y803C probably damaging Het
Nlrp4f T C 13: 65,338,660 (GRCm39) Y659C probably damaging Het
Noxred1 T C 12: 87,273,820 (GRCm39) T74A probably benign Het
Ntrk2 A T 13: 59,202,248 (GRCm39) M619L probably benign Het
Or5w18 A T 2: 87,633,159 (GRCm39) N142I probably benign Het
Orc4 A G 2: 48,823,111 (GRCm39) V120A probably benign Het
Polq T A 16: 36,894,301 (GRCm39) Y2037N probably damaging Het
Rimbp2 A G 5: 128,880,908 (GRCm39) C160R probably damaging Het
Skap2 C T 6: 51,898,310 (GRCm39) R140Q probably damaging Het
Srprb C T 9: 103,074,755 (GRCm39) R838H 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
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
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'- AAAAGTCTGGTGGCAGCAC -3'
(R):5'- ACCCGCCTTTGATGGGTTAG -3'

Sequencing Primer
(F):5'- CGGATCGGAGCTCCTAAAG -3'
(R):5'- AGGGGGTCTTGACCTCTG -3'
Posted On 2014-11-11