Incidental Mutation 'R4169:Rps6ka4'
ID 320722
Institutional Source Beutler Lab
Gene Symbol Rps6ka4
Ensembl Gene ENSMUSG00000024952
Gene Name ribosomal protein S6 kinase, polypeptide 4
Synonyms 90kDa, MSK2, 1110069D02Rik
MMRRC Submission 041010-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R4169 (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 6809188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 459 (L459P)
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: L459P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: L459P

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: L459P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: L459P

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
Meta Mutation Damage Score 0.3081 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 T C 4: 152,302,250 (GRCm39) C121R probably damaging Het
Ampd1 T A 3: 103,002,157 (GRCm39) M546K probably damaging Het
Birc2 T A 9: 7,849,684 (GRCm39) D535V possibly damaging Het
Btn1a1 A G 13: 23,649,325 (GRCm39) L9P probably benign Het
Cmip A T 8: 118,183,656 (GRCm39) N743I probably damaging Het
Col4a2 C T 8: 11,479,391 (GRCm39) P758L probably benign Het
Ddx50 A T 10: 62,476,549 (GRCm39) Y241* probably null Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fbn1 T C 2: 125,205,872 (GRCm39) T1042A possibly damaging Het
Gm5445 A G 13: 12,393,527 (GRCm39) noncoding transcript Het
Gnat3 T C 5: 18,208,862 (GRCm39) F189L probably damaging Het
Hectd1 T C 12: 51,837,008 (GRCm39) T815A probably damaging Het
Hmcn1 A C 1: 150,471,750 (GRCm39) probably null Het
Hrc A G 7: 44,986,181 (GRCm39) D444G probably benign Het
Ighv1-53 T A 12: 115,122,166 (GRCm39) I70F possibly damaging Het
Kat7 A G 11: 95,171,298 (GRCm39) F469L probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Krt81 T A 15: 101,359,193 (GRCm39) M242L probably benign Het
Krtap6-1 A G 16: 88,828,584 (GRCm39) probably null Het
Man2c1 A G 9: 57,045,310 (GRCm39) D473G probably benign Het
Mthfr-ps1 T C 5: 78,622,436 (GRCm39) noncoding transcript Het
Nop53 A T 7: 15,676,244 (GRCm39) W152R probably benign Het
Or5p58 A T 7: 107,694,591 (GRCm39) M62K probably damaging Het
Or6y1 T A 1: 174,277,162 (GRCm39) S324R unknown Het
Or8s8 A G 15: 98,354,878 (GRCm39) E229G probably benign Het
Pcdh1 A T 18: 38,331,358 (GRCm39) N548K probably damaging Het
Pcdhga12 A G 18: 37,899,467 (GRCm39) I100V probably benign Het
Piezo2 T C 18: 63,183,675 (GRCm39) H1743R probably benign Het
Pkdrej A G 15: 85,700,515 (GRCm39) V1807A probably benign Het
Rabl2 T C 15: 89,474,582 (GRCm39) M1V probably null Het
Rexo5 A G 7: 119,426,621 (GRCm39) probably benign Het
Rfng C G 11: 120,674,772 (GRCm39) G73R probably benign Het
Samd11 T A 4: 156,332,203 (GRCm39) D536V probably damaging Het
Slc9a5 A G 8: 106,084,032 (GRCm39) T451A possibly damaging Het
Snapc1 T A 12: 74,029,265 (GRCm39) N349K probably benign Het
Sox1ot A G 8: 12,480,544 (GRCm39) noncoding transcript Het
Tmem178 C T 17: 81,252,232 (GRCm39) H39Y possibly damaging Het
Trav8n-2 A T 14: 53,583,875 (GRCm39) T111S possibly damaging Het
Ttn T A 2: 76,703,103 (GRCm39) probably benign Het
Ttn T C 2: 76,762,909 (GRCm39) D3250G probably damaging Het
Ube2nl T A 7: 61,199,380 (GRCm39) noncoding transcript Het
Vps25 T C 11: 101,144,918 (GRCm39) S39P probably damaging Het
Zkscan14 G A 5: 145,132,985 (GRCm39) T182I 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
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
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'- ACAGCTTTTCAGGACACCATTC -3'
(R):5'- AGTACGAACTGGACCTTCGG -3'

Sequencing Primer
(F):5'- AGGACACCATTCTTTATCCACG -3'
(R):5'- CAGGGCAGCTTCTCTGTG -3'
Posted On 2015-06-12