Incidental Mutation 'IGL03299:Rps6ka4'
ID 416194
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03299
Quality Score
Status
Chromosome 19
Chromosomal Location 6806578-6818004 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 6809615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025903] [ENSMUST00000170516]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025903
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952

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 benign
Transcript: ENSMUST00000170516
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 126,303,476 (GRCm39) probably benign Het
Abca17 A T 17: 24,484,565 (GRCm39) C1566S probably damaging Het
Akr1cl A T 1: 65,063,874 (GRCm39) L105H probably damaging Het
Ano1 A G 7: 144,207,993 (GRCm39) F256S probably damaging Het
Arfip2 C T 7: 105,287,150 (GRCm39) R138H probably damaging Het
Cers6 T A 2: 68,692,128 (GRCm39) M50K probably benign Het
Dnah1 G A 14: 31,037,079 (GRCm39) Q256* probably null Het
Dync1h1 G A 12: 110,585,644 (GRCm39) E852K possibly damaging Het
Fars2 C T 13: 36,721,384 (GRCm39) Q443* probably null Het
Glb1l3 T C 9: 26,770,748 (GRCm39) N106S probably damaging Het
Haus7 T C X: 72,496,670 (GRCm39) probably null Het
Hectd1 C T 12: 51,847,671 (GRCm39) probably benign Het
Hyal5 G T 6: 24,877,881 (GRCm39) G326C probably damaging Het
Ibtk A T 9: 85,603,189 (GRCm39) D605E probably benign Het
Kif26b T C 1: 178,649,125 (GRCm39) L415P probably benign Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Muc5b A G 7: 141,395,117 (GRCm39) D41G unknown Het
Mxra7 A G 11: 116,695,360 (GRCm39) probably benign Het
Ncoa6 T C 2: 155,249,207 (GRCm39) T1366A probably damaging Het
Nmd3 C T 3: 69,637,762 (GRCm39) probably null Het
Or6c206 T C 10: 129,097,196 (GRCm39) V122A probably benign Het
Pla2g4a T C 1: 149,727,118 (GRCm39) N546S probably damaging Het
Prkcz T C 4: 155,371,247 (GRCm39) T139A possibly damaging Het
Rarb T C 14: 16,434,168 (GRCm38) K337E probably damaging Het
Scamp2 A G 9: 57,485,023 (GRCm39) probably null Het
Scn3a T A 2: 65,327,860 (GRCm39) M877L probably benign Het
Sh3pxd2b T C 11: 32,361,448 (GRCm39) probably benign Het
Slc22a29 C T 19: 8,140,012 (GRCm39) probably null Het
Slc34a1 T C 13: 24,005,094 (GRCm39) probably null Het
Srbd1 A T 17: 86,428,087 (GRCm39) I382N possibly damaging Het
Tm7sf2 T C 19: 6,112,958 (GRCm39) I387M probably benign Het
Wfs1 C A 5: 37,125,731 (GRCm39) E311* probably null Het
Zc3h13 G A 14: 75,531,381 (GRCm39) R93H 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
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
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
Posted On 2016-08-02