Incidental Mutation 'R6462:Rps6ka4'
ID 517660
Institutional Source Beutler Lab
Gene Symbol Rps6ka4
Ensembl Gene ENSMUSG00000024952
Gene Name ribosomal protein S6 kinase, polypeptide 4
Synonyms 90kDa, MSK2, 1110069D02Rik
MMRRC Submission 044596-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R6462 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 6814957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 249 (E249A)
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: E249A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: E249A

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: E249A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: E249A

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 0.2676 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.6%
Validation Efficiency 95% (37/39)
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
Arpc1a C T 5: 145,045,197 (GRCm39) S362F probably benign Het
Brd9 C T 13: 74,088,788 (GRCm39) A171V probably damaging Het
Camta1 A G 4: 151,170,621 (GRCm39) V62A probably damaging Het
Cdc5l G A 17: 45,703,975 (GRCm39) R750C probably benign Het
Ctdp1 C T 18: 80,463,689 (GRCm39) E116K probably damaging Het
Dync2i1 T C 12: 116,193,251 (GRCm39) N567S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epor T C 9: 21,870,551 (GRCm39) E443G probably benign Het
Fam90a1a A T 8: 22,449,298 (GRCm39) Q14L probably benign Het
Herc4 T C 10: 63,124,880 (GRCm39) L498P probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lmod2 T G 6: 24,604,300 (GRCm39) V425G probably benign Het
Ly6c1 T A 15: 74,916,178 (GRCm39) probably benign Het
Me2 C A 18: 73,908,470 (GRCm39) V490F probably benign Het
Mllt3 T C 4: 87,692,338 (GRCm39) T27A probably damaging Het
Mmp1a T C 9: 7,467,039 (GRCm39) Y239H probably benign Het
Mycbp2 A G 14: 103,373,993 (GRCm39) probably null Het
Myo15b A C 11: 115,750,268 (GRCm39) E346A probably benign Het
Myo3a T C 2: 22,448,423 (GRCm39) F66S probably damaging Het
Ncor2 T C 5: 125,101,236 (GRCm39) Y137C probably damaging Het
Nup98 A T 7: 101,844,223 (GRCm39) F37L probably benign Het
Odf2l T G 3: 144,852,672 (GRCm39) L472R probably damaging Het
Or10al2 T C 17: 37,983,111 (GRCm39) Y66H probably damaging Het
P4ha3 T A 7: 99,963,873 (GRCm39) I463N probably damaging Het
Pappa C A 4: 65,043,128 (GRCm39) T117K probably damaging Het
Ppme1 C A 7: 99,987,599 (GRCm39) R271M probably benign Het
Rxfp1 T A 3: 79,555,596 (GRCm39) I587F probably benign Het
Sipa1l2 A G 8: 126,217,969 (GRCm39) V456A probably damaging Het
Slc25a23 T A 17: 57,359,720 (GRCm39) I344F probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tbc1d10c T C 19: 4,234,893 (GRCm39) I389M possibly damaging Het
Tep1 A G 14: 51,081,836 (GRCm39) F1205L probably benign Het
Tgfbr1 T A 4: 47,402,846 (GRCm39) H214Q probably damaging Het
Traf3ip2 T A 10: 39,515,243 (GRCm39) N340K probably benign Het
Zbbx T C 3: 74,985,966 (GRCm39) E362G probably benign Het
Zfp46 A C 4: 136,017,924 (GRCm39) T253P 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
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
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'- TTCTTAGGGTCCTTGCACAGC -3'
(R):5'- ATCATCCGAAGCAAGGCTG -3'

Sequencing Primer
(F):5'- TCCTTGCACAGCAGCCG -3'
(R):5'- TCCGAAGCAAGGCTGGACATG -3'
Posted On 2018-05-21