Incidental Mutation 'R2412:Rps6ka4'
ID 250045
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 # R2412 (G1)
Quality Score 184
Status Not validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 6807309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Lysine at position 774 (*774K)
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: *774K
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: *774K

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: *774K
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: *774K

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: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,127,740 (GRCm39) Q114L probably benign Het
Adamts3 A G 5: 89,849,630 (GRCm39) Y597H probably damaging Het
Bmi1 A G 2: 18,688,525 (GRCm39) H172R probably damaging Het
Cyp3a44 A T 5: 145,716,389 (GRCm39) Y400* probably null Het
Dennd5b T C 6: 148,906,736 (GRCm39) T1062A possibly damaging Het
Dync2h1 T C 9: 7,144,246 (GRCm39) D1065G probably benign Het
Ephb1 G A 9: 101,879,015 (GRCm39) R492C possibly damaging Het
Fat4 A T 3: 39,011,221 (GRCm39) H2107L probably benign Het
Itga8 A G 2: 12,306,526 (GRCm39) V23A probably benign Het
Lrba A G 3: 86,235,007 (GRCm39) N851D probably damaging Het
Ltbp3 A G 19: 5,796,673 (GRCm39) T322A probably benign Het
Ntpcr T C 8: 126,472,144 (GRCm39) V151A probably damaging Het
Or8h7 T C 2: 86,721,178 (GRCm39) I114V probably benign Het
Or9g3 C A 2: 85,590,024 (GRCm39) G232V probably damaging Het
Pramel51 A G 12: 88,143,880 (GRCm39) V311A probably damaging Het
Slc12a5 T C 2: 164,818,382 (GRCm39) probably null Het
Tmem219 T C 7: 126,495,939 (GRCm39) S37G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubb1 A G 2: 174,298,903 (GRCm39) N195S possibly damaging Het
Zan A G 5: 137,412,425 (GRCm39) probably null Het
Zfp85 T C 13: 67,897,765 (GRCm39) I102M 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
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'- TTCCTAGGGATCAGAGTGGG -3'
(R):5'- GGCTTCTTTCTCAAGAGTGTAGAG -3'

Sequencing Primer
(F):5'- ATCAGAGTGGGAGCCGCTG -3'
(R):5'- CTTTCTCAAGAGTGTAGAGAATGCGC -3'
Posted On 2014-11-12