Incidental Mutation 'IGL01293:Rps6ka6'
ID 73007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6ka6
Ensembl Gene ENSMUSG00000025665
Gene Name ribosomal protein S6 kinase polypeptide 6
Synonyms 2610524K04Rik, RSK4
Accession Numbers
Essential gene? Not available question?
Stock # IGL01293
Quality Score
Status
Chromosome X
Chromosomal Location 110297889-110447656 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 110360059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065976] [ENSMUST00000082034] [ENSMUST00000096348] [ENSMUST00000113428] [ENSMUST00000123102] [ENSMUST00000123213] [ENSMUST00000138645] [ENSMUST00000123951] [ENSMUST00000128819] [ENSMUST00000156639] [ENSMUST00000132319] [ENSMUST00000137712]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065976
SMART Domains Protein: ENSMUSP00000068483
Gene: ENSMUSG00000025665

DomainStartEndE-ValueType
S_TKc 110 367 7.35e-104 SMART
S_TK_X 368 429 4.94e-18 SMART
S_TKc 463 715 3.9e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000082034
SMART Domains Protein: ENSMUSP00000080694
Gene: ENSMUSG00000025665

DomainStartEndE-ValueType
S_TKc 189 446 7.35e-104 SMART
S_TK_X 447 508 4.94e-18 SMART
S_TKc 542 799 5.08e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096348
SMART Domains Protein: ENSMUSP00000094073
Gene: ENSMUSG00000025665

DomainStartEndE-ValueType
S_TKc 110 367 7.35e-104 SMART
S_TK_X 368 429 4.94e-18 SMART
S_TKc 463 720 5.08e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113428
SMART Domains Protein: ENSMUSP00000109055
Gene: ENSMUSG00000025665

DomainStartEndE-ValueType
S_TKc 110 367 7.35e-104 SMART
S_TK_X 368 429 4.94e-18 SMART
S_TKc 463 715 3.06e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123102
Predicted Effect probably benign
Transcript: ENSMUST00000123213
SMART Domains Protein: ENSMUSP00000118075
Gene: ENSMUSG00000025665

DomainStartEndE-ValueType
PDB:4GUE|A 89 163 2e-36 PDB
SCOP:d1f3mc_ 94 163 2e-14 SMART
Blast:S_TKc 110 163 2e-28 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000138645
SMART Domains Protein: ENSMUSP00000121489
Gene: ENSMUSG00000025665

DomainStartEndE-ValueType
Pfam:Pkinase 98 162 3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123951
Predicted Effect probably benign
Transcript: ENSMUST00000128819
SMART Domains Protein: ENSMUSP00000117228
Gene: ENSMUSG00000025665

DomainStartEndE-ValueType
Blast:STYKc 110 203 4e-25 BLAST
PDB:4GUE|A 168 203 9e-13 PDB
SCOP:d1f3mc_ 173 203 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156639
Predicted Effect probably benign
Transcript: ENSMUST00000132319
Predicted Effect probably benign
Transcript: ENSMUST00000137712
SMART Domains Protein: ENSMUSP00000121722
Gene: ENSMUSG00000025665

DomainStartEndE-ValueType
S_TKc 89 346 7.35e-104 SMART
S_TK_X 347 408 4.94e-18 SMART
S_TKc 442 699 5.08e-98 SMART
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 ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it is not growth factor dependent and may not participate in the same signaling pathways. [provided by RefSeq, Jan 2010]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele exhibit a possible gastrulation defect, primitive streak and node defects, failure of chorioallantoic fusion, impaired embryo turning, posterior truncation, abnormal heart development, and microcephaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Rps6ka6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01696:Rps6ka6 APN X 110,317,214 (GRCm39) missense probably benign 0.00
IGL03231:Rps6ka6 APN X 110,360,018 (GRCm39) missense probably benign 0.12
R1840:Rps6ka6 UTSW X 110,330,629 (GRCm39) missense possibly damaging 0.48
X0063:Rps6ka6 UTSW X 110,322,396 (GRCm39) splice site probably null
Posted On 2013-10-07