Incidental Mutation 'R3427:Rps6ka4'
ID 267941
Institutional Source Beutler Lab
Gene Symbol Rps6ka4
Ensembl Gene ENSMUSG00000024952
Gene Name ribosomal protein S6 kinase, polypeptide 4
Synonyms 90kDa, MSK2, 1110069D02Rik
MMRRC Submission 040645-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R3427 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 6815123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025903] [ENSMUST00000025903] [ENSMUST00000170516] [ENSMUST00000170516]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
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 null
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 null
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T A 9: 107,806,969 (GRCm39) F431I probably damaging Het
Asb18 C T 1: 89,896,315 (GRCm39) G242S probably damaging Het
Atp13a3 T C 16: 30,163,411 (GRCm39) I582V probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Bsph1 T C 7: 13,206,168 (GRCm39) Y78H probably damaging Het
Chd6 G T 2: 160,832,175 (GRCm39) T999N probably damaging Het
Cps1 T A 1: 67,213,653 (GRCm39) V795E probably damaging Het
Crhr1 A G 11: 104,064,419 (GRCm39) probably null Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ctbp2 A T 7: 132,593,321 (GRCm39) H793Q probably damaging Het
Cul5 T C 9: 53,529,190 (GRCm39) M805V probably benign Het
Dctn3 T C 4: 41,719,858 (GRCm39) K83E probably damaging Het
Ep300 A G 15: 81,485,480 (GRCm39) N156D unknown Het
Epb42 A T 2: 120,860,520 (GRCm39) L160M probably damaging Het
Exosc2 T C 2: 31,569,900 (GRCm39) L237P probably damaging Het
Fiz1 A G 7: 5,015,708 (GRCm39) F94S probably damaging Het
Gm5422 A G 10: 31,124,842 (GRCm39) noncoding transcript Het
Igsf9b T C 9: 27,245,873 (GRCm39) F1280S probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Kcnh1 T C 1: 191,924,238 (GRCm39) F151L probably benign Het
Nudc C T 4: 133,261,568 (GRCm39) G239S probably benign Het
Or6c215 T C 10: 129,637,720 (GRCm39) K225E possibly damaging Het
Plekhb1 T C 7: 100,294,857 (GRCm39) Y172C probably damaging Het
Plscr4 T C 9: 92,370,797 (GRCm39) S255P probably damaging Het
Rbm26 A G 14: 105,368,968 (GRCm39) V737A probably damaging Het
Rsf1 GCG GCGACGGCGTCG 7: 97,229,114 (GRCm39) probably benign Het
Rttn G A 18: 89,113,775 (GRCm39) probably null Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Strip1 T C 3: 107,524,138 (GRCm39) H593R possibly damaging Het
Sycp1 A T 3: 102,783,666 (GRCm39) C603S probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc1 C T 9: 95,614,249 (GRCm39) R5Q probably benign Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign 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
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'- TGACCTGTACAACTCACCGG -3'
(R):5'- AAGGTTCCCACTGTTTTCCCAG -3'

Sequencing Primer
(F):5'- GGACACCTCAGCCTGAGTGTTC -3'
(R):5'- CCCAGAATCTTCTAATTTGAGCAAG -3'
Posted On 2015-02-18