Incidental Mutation 'R1104:Rps6ka4'
ID 98421
Institutional Source Beutler Lab
Gene Symbol Rps6ka4
Ensembl Gene ENSMUSG00000024952
Gene Name ribosomal protein S6 kinase, polypeptide 4
Synonyms 90kDa, MSK2, 1110069D02Rik
MMRRC Submission 039177-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R1104 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6808364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 598 (I598F)
Ref Sequence ENSEMBL: ENSMUSP00000131581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025903] [ENSMUST00000170516]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025903
AA Change: I598F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: I598F

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 damaging
Transcript: ENSMUST00000170516
AA Change: I598F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: I598F

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 0.7888 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (70/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930550C14Rik A G 9: 53,332,917 (GRCm39) I93V probably benign Het
Abcg5 A C 17: 84,989,477 (GRCm39) I77S possibly damaging Het
Adam3 T C 8: 25,171,545 (GRCm39) Y762C probably benign Het
Agap1 T C 1: 89,716,962 (GRCm39) S26P probably damaging Het
Ago1 T C 4: 126,347,426 (GRCm39) Y441C probably damaging Het
B3gnt3 A G 8: 72,146,481 (GRCm39) L16S possibly damaging Het
Btaf1 T A 19: 36,982,002 (GRCm39) D1677E probably damaging Het
Cd5l T A 3: 87,268,206 (GRCm39) S18T probably benign Het
Cdca2 T A 14: 67,931,131 (GRCm39) R521W probably damaging Het
Cfap61 C A 2: 145,792,981 (GRCm39) S64* probably null Het
Cryzl2 T A 1: 157,298,174 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dhrs1 T C 14: 55,981,162 (GRCm39) K83E probably benign Het
Dmrt2 T A 19: 25,655,980 (GRCm39) F526L probably benign Het
Dnajb14 T A 3: 137,614,115 (GRCm39) M342K possibly damaging Het
Dpf3 A G 12: 83,378,761 (GRCm39) V101A probably benign Het
Dthd1 A C 5: 62,979,302 (GRCm39) T321P probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fras1 G A 5: 96,856,530 (GRCm39) R1971Q probably benign Het
Fry A G 5: 150,419,754 (GRCm39) N608S probably damaging Het
Gabrr3 T A 16: 59,281,998 (GRCm39) V451D probably damaging Het
Glg1 A G 8: 111,924,235 (GRCm39) L251P probably benign Het
Gli2 T A 1: 118,781,080 (GRCm39) S222C probably damaging Het
Gsr A G 8: 34,159,949 (GRCm39) E99G probably damaging Het
H1f5 T C 13: 21,964,451 (GRCm39) T92A possibly damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hus1b T C 13: 31,131,679 (GRCm39) probably benign Het
Igf1r T A 7: 67,844,774 (GRCm39) I849N possibly damaging Het
Itih5 A G 2: 10,256,323 (GRCm39) T930A probably benign Het
Ivns1abp T A 1: 151,235,860 (GRCm39) M309K probably benign Het
Kdm3b T A 18: 34,952,864 (GRCm39) F1078Y probably damaging Het
Krt12 C A 11: 99,312,792 (GRCm39) G84V unknown Het
Krt40 T G 11: 99,431,059 (GRCm39) E150A probably damaging Het
Lcn11 G T 2: 25,669,115 (GRCm39) probably benign Het
Lcor G T 19: 41,574,502 (GRCm39) G1086C probably damaging Het
Liph A G 16: 21,802,898 (GRCm39) I57T possibly damaging Het
Lrrc46 C T 11: 96,926,997 (GRCm39) V107M probably damaging Het
Ltb4r1 T C 14: 56,004,832 (GRCm39) I45T probably damaging Het
Mapkbp1 A G 2: 119,841,554 (GRCm39) probably benign Het
Mark3 C T 12: 111,584,831 (GRCm39) probably benign Het
Mug2 C T 6: 122,036,014 (GRCm39) A642V probably benign Het
Myh11 A G 16: 14,019,991 (GRCm39) S1814P possibly damaging Het
Ndst1 T A 18: 60,830,218 (GRCm39) S631C probably damaging Het
Nrbf2 A T 10: 67,103,691 (GRCm39) D137E possibly damaging Het
Or2ag16 A T 7: 106,351,989 (GRCm39) M202K probably benign Het
Or51l4 A G 7: 103,404,183 (GRCm39) V203A probably benign Het
Or6c208 T A 10: 129,224,090 (GRCm39) M196K probably benign Het
Parn A G 16: 13,485,449 (GRCm39) Y16H probably damaging Het
Parp14 A G 16: 35,664,785 (GRCm39) probably benign Het
Prl3d1 C T 13: 27,283,992 (GRCm39) T187I probably benign Het
Ptgir G A 7: 16,641,055 (GRCm39) probably null Het
Rabgap1l C T 1: 160,059,445 (GRCm39) probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rnf213 T C 11: 119,368,055 (GRCm39) Y4697H probably benign Het
Ryr2 C T 13: 11,684,855 (GRCm39) V3029M probably damaging Het
Slc34a1 T C 13: 24,003,920 (GRCm39) F335S probably damaging Het
Spata6l T C 19: 28,945,032 (GRCm39) M1V probably null Het
Stau2 A T 1: 16,510,585 (GRCm39) Y124* probably null Het
Tbl3 A G 17: 24,920,580 (GRCm39) I652T probably benign Het
Trappc3 C T 4: 126,166,759 (GRCm39) probably benign Het
Trim60 A T 8: 65,454,071 (GRCm39) F59L probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a T C 1: 188,648,453 (GRCm39) F4686S probably benign Het
Vcan T C 13: 89,840,529 (GRCm39) T1672A probably damaging Het
Vmn1r215 T A 13: 23,260,758 (GRCm39) I266N possibly damaging Het
Vmn2r6 A T 3: 64,445,487 (GRCm39) V657E possibly damaging Het
Wdr95 G T 5: 149,529,802 (GRCm39) A548S probably benign Het
Zfp12 A G 5: 143,231,500 (GRCm39) Y609C probably damaging Het
Znfx1 C A 2: 166,897,560 (GRCm39) E455* probably null 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
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
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'- ACGGATCTTGCACATGATCTCAGC -3'
(R):5'- ACATCTTGTACGCGGACGACAC -3'

Sequencing Primer
(F):5'- GCCAGACAGCATCATGTACTAGG -3'
(R):5'- CCTTGCTTCACACTGCAGTA -3'
Posted On 2014-01-05