Incidental Mutation 'R3844:Rps6ka4'
ID 277301
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 # R3844 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 6815171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 202 (E202*)
Ref Sequence ENSEMBL: ENSMUSP00000131581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025903] [ENSMUST00000170516]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025903
AA Change: E202*
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: E202*

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 null
Transcript: ENSMUST00000170516
AA Change: E202*
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: E202*

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A T 11: 6,150,032 (GRCm39) R2* probably null Het
Acaca T A 11: 84,255,239 (GRCm39) D1932E probably damaging Het
Adam5 T A 8: 25,303,426 (GRCm39) D167V probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Aqp11 T A 7: 97,387,046 (GRCm39) E50V probably damaging Het
Arid4b C T 13: 14,361,645 (GRCm39) S703L probably damaging Het
Ccl25 T G 8: 4,404,183 (GRCm39) V179G possibly damaging Het
Clk2 A G 3: 89,077,710 (GRCm39) N222S probably benign Het
Col13a1 C T 10: 61,685,988 (GRCm39) G668D unknown Het
Col20a1 A G 2: 180,634,242 (GRCm39) E69G probably damaging Het
Dcc G A 18: 71,959,257 (GRCm39) H172Y probably benign Het
Dock8 T G 19: 25,042,794 (GRCm39) Y125* probably null Het
E2f1 A G 2: 154,402,748 (GRCm39) S340P probably benign Het
Fars2 T C 13: 36,389,084 (GRCm39) F191S probably damaging Het
Filip1l T C 16: 57,392,790 (GRCm39) V888A probably benign Het
Fn1 T A 1: 71,648,733 (GRCm39) H1392L possibly damaging Het
Fsip2 C T 2: 82,819,950 (GRCm39) H5228Y possibly damaging Het
Galnt14 A G 17: 74,016,924 (GRCm39) probably null Het
Grm8 A T 6: 27,429,507 (GRCm39) N462K possibly damaging Het
Ireb2 A G 9: 54,799,789 (GRCm39) E410G probably damaging Het
Kdm2b A T 5: 123,072,856 (GRCm39) Y341N probably damaging Het
Kdm7a T A 6: 39,158,513 (GRCm39) I77F probably damaging Het
Klhl11 A T 11: 100,363,133 (GRCm39) M141K possibly damaging Het
Lactbl1 A G 4: 136,365,271 (GRCm39) H541R possibly damaging Het
Mylk A G 16: 34,742,247 (GRCm39) M920V probably benign Het
Or2w1b A G 13: 21,300,233 (GRCm39) T124A possibly damaging Het
Piwil4 T A 9: 14,641,256 (GRCm39) T179S possibly damaging Het
Ranbp2 T C 10: 58,313,717 (GRCm39) L1479P possibly damaging Het
Rpl3l A G 17: 24,952,916 (GRCm39) H292R probably benign Het
Rsph14 T C 10: 74,867,107 (GRCm39) D13G possibly damaging Het
Sri A G 5: 8,114,576 (GRCm39) D177G probably damaging Het
Tenm2 A G 11: 35,938,365 (GRCm39) V1437A probably damaging Het
Tiam2 A G 17: 3,471,926 (GRCm39) R523G probably damaging Het
Tm9sf3 A T 19: 41,205,555 (GRCm39) L561M possibly damaging Het
Tnrc6c G T 11: 117,646,309 (GRCm39) D1417Y probably damaging Het
Ubr4 C T 4: 139,186,437 (GRCm39) S648L probably damaging Het
Zfp827 T A 8: 79,863,248 (GRCm39) L69Q 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
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'- TCTCTCCCTCCAGTGTGAAG -3'
(R):5'- TACAGACTTTGGGCTGAGCAAG -3'

Sequencing Primer
(F):5'- CCTCCAGTGTGAAGGGTGAG -3'
(R):5'- TGGGCTGAGCAAGGAGTTCC -3'
Posted On 2015-04-06