Incidental Mutation 'R1620:Rps6ka4'
ID 174642
Institutional Source Beutler Lab
Gene Symbol Rps6ka4
Ensembl Gene ENSMUSG00000024952
Gene Name ribosomal protein S6 kinase, polypeptide 4
Synonyms 90kDa, MSK2, 1110069D02Rik
MMRRC Submission 039657-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R1620 (G1)
Quality Score 210
Status Validated
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6815517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 159 (Y159C)
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: Y159C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: Y159C

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: Y159C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: Y159C

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 0.9090 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
Validation Efficiency 95% (58/61)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2c2 T C 8: 120,475,865 (GRCm39) V586A probably benign Het
Atp8a2 T A 14: 60,028,632 (GRCm39) H945L probably benign Het
Bfar G T 16: 13,506,710 (GRCm39) V187F probably damaging Het
Capn2 A T 1: 182,344,702 (GRCm39) I73N probably damaging Het
Cfc1 C A 1: 34,575,554 (GRCm39) A76E possibly damaging Het
Chl1 T C 6: 103,667,203 (GRCm39) F398L probably benign Het
Cyp2u1 A G 3: 131,096,350 (GRCm39) S143P probably damaging Het
Dlgap4 T A 2: 156,591,056 (GRCm39) Y57* probably null Het
Epha4 T A 1: 77,351,563 (GRCm39) R897S probably benign Het
Fscn2 A T 11: 120,257,511 (GRCm39) T291S probably damaging Het
Gga1 G A 15: 78,772,670 (GRCm39) S267N probably damaging Het
Gigyf2 A G 1: 87,376,850 (GRCm39) T1287A probably damaging Het
Gm10845 C A 14: 80,100,669 (GRCm39) noncoding transcript Het
Gm11559 T A 11: 99,755,882 (GRCm39) L177Q unknown Het
Itga9 A G 9: 118,672,570 (GRCm39) T195A probably benign Het
Krbox5 T C 13: 67,991,109 (GRCm39) probably benign Het
Lama1 A G 17: 68,074,028 (GRCm39) T935A probably benign Het
Lrrk1 G T 7: 66,031,286 (GRCm39) T4K probably benign Het
Lrrn1 G A 6: 107,545,327 (GRCm39) C375Y probably damaging Het
Maip1 T C 1: 57,449,144 (GRCm39) probably null Het
Mecom A T 3: 30,041,237 (GRCm39) I119N probably damaging Het
Mrpl2 G A 17: 46,958,425 (GRCm39) R69H probably benign Het
Muc16 A G 9: 18,421,773 (GRCm39) V8246A possibly damaging Het
Myh3 C T 11: 66,979,562 (GRCm39) probably benign Het
Myocd A G 11: 65,087,220 (GRCm39) S236P probably benign Het
Myot A T 18: 44,470,125 (GRCm39) Q34L possibly damaging Het
Nlrp5 A G 7: 23,118,064 (GRCm39) D596G probably damaging Het
Npas2 T C 1: 39,372,993 (GRCm39) S415P possibly damaging Het
Obox2 A G 7: 15,130,966 (GRCm39) E66G probably benign Het
Or4f59 G T 2: 111,872,591 (GRCm39) T262K probably benign Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Phactr1 G T 13: 43,248,373 (GRCm39) V356L probably damaging Het
Pparg A T 6: 115,450,242 (GRCm39) I414L probably benign Het
Rapgef6 A T 11: 54,517,420 (GRCm39) I371L possibly damaging Het
Rc3h1 T C 1: 160,782,543 (GRCm39) V674A probably benign Het
Sf3b6 T C 12: 4,876,808 (GRCm39) I67T possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Spata17 T C 1: 186,915,412 (GRCm39) probably benign Het
Ston1 A G 17: 88,943,244 (GRCm39) T217A probably benign Het
Tank A G 2: 61,480,442 (GRCm39) D326G possibly damaging Het
Tbc1d9 T A 8: 83,976,224 (GRCm39) N594K probably damaging Het
Tfpi2 T A 6: 3,965,507 (GRCm39) T102S probably benign Het
Ulk4 T G 9: 121,033,871 (GRCm39) E589D possibly damaging Het
Usp40 A T 1: 87,921,947 (GRCm39) H305Q probably damaging Het
Vmn1r170 A G 7: 23,305,754 (GRCm39) K52R probably benign Het
Vmn1r194 A G 13: 22,429,133 (GRCm39) D250G probably damaging Het
Wdr6 A T 9: 108,451,854 (GRCm39) D676E possibly damaging Het
Xirp2 T A 2: 67,341,179 (GRCm39) V1140E 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
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'- GGCCCTAAAGGCTTAGAGCAGAAC -3'
(R):5'- CCCAGCTTTATCCTGCCCTGGA -3'

Sequencing Primer
(F):5'- AGAGCAGAACTTGCTCAAATTAG -3'
(R):5'- GCCCTGGAGTTCTCCCTG -3'
Posted On 2014-04-24