Incidental Mutation 'R3721:Rps6ka4'
ID 258936
Institutional Source Beutler Lab
Gene Symbol Rps6ka4
Ensembl Gene ENSMUSG00000024952
Gene Name ribosomal protein S6 kinase, polypeptide 4
Synonyms 90kDa, MSK2, 1110069D02Rik
MMRRC Submission 040712-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R3721 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6816645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 146 (V146A)
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: V146A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: V146A

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: V146A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: V146A

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
Meta Mutation Damage Score 0.1980 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (59/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a T C 2: 48,782,150 (GRCm39) S228P probably damaging Het
Adamts2 C T 11: 50,664,038 (GRCm39) probably benign Het
Arhgap9 A G 10: 127,164,840 (GRCm39) E588G possibly damaging Het
Ash2l C G 8: 26,308,653 (GRCm39) G453A probably damaging Het
Catsperg2 A G 7: 29,404,527 (GRCm39) V638A probably benign Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cdc73 T C 1: 143,571,191 (GRCm39) I83V possibly damaging Het
Ceacam23 A G 7: 17,636,663 (GRCm39) T247A probably benign Het
Clec2e C A 6: 129,071,373 (GRCm39) E155* probably null Het
Cyp3a59 T A 5: 146,033,407 (GRCm39) M181K probably damaging Het
Dars2 A T 1: 160,890,878 (GRCm39) V111E probably benign Het
Diras2 T A 13: 52,662,059 (GRCm39) I83F probably damaging Het
Dlg2 T A 7: 91,361,008 (GRCm39) probably null Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Eeig2 C T 3: 108,887,083 (GRCm39) R305Q probably damaging Het
Emilin2 T C 17: 71,580,449 (GRCm39) N759S probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Ggnbp1 T C 17: 27,248,587 (GRCm39) V52A probably benign Het
Gpr171 A G 3: 59,005,091 (GRCm39) V228A possibly damaging Het
Gsta3 T C 1: 21,330,313 (GRCm39) M55T probably benign Het
Hectd3 T A 4: 116,856,942 (GRCm39) N496K probably benign Het
Hp1bp3 T G 4: 137,966,919 (GRCm39) F367V probably damaging Het
Il18rap T A 1: 40,576,248 (GRCm39) L253Q probably damaging Het
Irs1 C T 1: 82,267,806 (GRCm39) G137S probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lair1 A C 7: 4,013,782 (GRCm39) L155R probably damaging Het
Larp7 A G 3: 127,340,460 (GRCm39) L126P probably damaging Het
Lhx1 G A 11: 84,412,654 (GRCm39) R89C probably damaging Het
Lypd4 C A 7: 24,564,884 (GRCm39) A85S probably benign Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myh10 G T 11: 68,703,878 (GRCm39) R1863L probably damaging Het
Myo9a G A 9: 59,775,463 (GRCm39) V1025I probably benign Het
Naa25 T A 5: 121,569,619 (GRCm39) D659E probably benign Het
Nol9 A G 4: 152,124,163 (GRCm39) S118G probably benign Het
Or4k2 C T 14: 50,424,137 (GRCm39) C179Y probably damaging Het
Or5p72 G T 7: 108,022,326 (GRCm39) D183Y probably damaging Het
Pde10a T A 17: 9,188,421 (GRCm39) I907N probably damaging Het
Pkhd1 T C 1: 20,655,879 (GRCm39) D218G probably benign Het
Poll A G 19: 45,542,016 (GRCm39) I430T probably damaging Het
Pomgnt1 T G 4: 116,010,740 (GRCm39) probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rad1 T C 15: 10,488,112 (GRCm39) S79P probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Rcc1 T C 4: 132,065,125 (GRCm39) K133E possibly damaging Het
Ric8a T C 7: 140,441,874 (GRCm39) probably null Het
Rnf135 G T 11: 80,087,743 (GRCm39) A231S probably benign Het
Sh3bp4 A G 1: 89,073,050 (GRCm39) I633V possibly damaging Het
Slc2a2 T A 3: 28,781,301 (GRCm39) N446K probably damaging Het
Slc44a1 T C 4: 53,491,445 (GRCm39) Y61H probably damaging Het
Slc7a1 G A 5: 148,272,343 (GRCm39) R445* probably null Het
Smc5 T C 19: 23,187,856 (GRCm39) M911V probably benign Het
Sntb1 C A 15: 55,506,214 (GRCm39) R453L probably benign Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Srrm2 CTCCTCTTCTTCCTCTTCTTCCTC CTCCTCTTCTTCCTC 17: 24,041,549 (GRCm39) probably benign Het
Trpm1 T G 7: 63,867,475 (GRCm39) probably benign Het
Tufm T C 7: 126,089,632 (GRCm39) M442T probably benign Het
Ubn1 A G 16: 4,891,242 (GRCm39) N539S 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
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'- ACCACTTAAGGAAGTCCGATGAAG -3'
(R):5'- ATCTCAGCTTTGGAGAGGGAC -3'

Sequencing Primer
(F):5'- CCGATGAAGGTTAGCCTAGGTTCC -3'
(R):5'- CGGGAGTTAGATTAGGCTACC -3'
Posted On 2015-01-23