Incidental Mutation 'IGL01293:Rps6ka6'
ID73007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6ka6
Ensembl Gene ENSMUSG00000025665
Gene Nameribosomal protein S6 kinase polypeptide 6
SynonymsRSK4, 2610524K04Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01293
Quality Score
Status
ChromosomeX
Chromosomal Location111388192-111537959 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 111450362 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065976] [ENSMUST00000082034] [ENSMUST00000096348] [ENSMUST00000113428] [ENSMUST00000123102] [ENSMUST00000123213] [ENSMUST00000123951] [ENSMUST00000128819] [ENSMUST00000132319] [ENSMUST00000137712] [ENSMUST00000138645] [ENSMUST00000156639]
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: 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: 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
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: ENSMUST00000156639
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: 144,463,656 V25A probably benign Het
Aagab T C 9: 63,636,469 V235A probably benign Het
Ash1l T C 3: 88,983,529 V905A probably benign Het
Atrx A G X: 105,876,195 S641P probably benign Het
Bnc1 T C 7: 81,974,489 E330G probably damaging Het
Cenpq A T 17: 40,933,176 S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 M1K probably null Het
Cul2 A G 18: 3,419,426 K196E probably damaging Het
Cyp2d10 A T 15: 82,403,009 V471E possibly damaging Het
Efhc2 T A X: 17,207,695 I469L probably benign Het
Fhod3 C T 18: 25,020,652 probably benign Het
Gm1968 A G 16: 29,958,814 noncoding transcript Het
Gm438 G T 4: 144,777,589 H331N probably benign Het
Hpdl T A 4: 116,820,944 T107S possibly damaging Het
Il1rl1 G A 1: 40,446,216 G276D possibly damaging Het
Irgq A G 7: 24,533,724 D330G probably damaging Het
Kdm4b A G 17: 56,353,019 D62G probably benign Het
Lama2 T C 10: 27,231,636 T793A probably benign Het
Lrrk2 T C 15: 91,726,137 F691L probably benign Het
Macf1 C T 4: 123,471,311 G1654E probably benign Het
Mgat4c A T 10: 102,388,225 Y100F probably benign Het
Ncapg A G 5: 45,681,854 N532S probably benign Het
Nfkb1 T C 3: 135,590,839 D782G probably damaging Het
Nthl1 G T 17: 24,638,709 C294F probably damaging Het
Obp2b A G 2: 25,737,707 H45R probably benign Het
Olfm1 A G 2: 28,214,703 E156G probably damaging Het
Olfr113 A G 17: 37,575,417 I2T probably benign Het
Olfr847 C A 9: 19,375,336 A182S probably benign Het
Otud6b A G 4: 14,822,682 probably benign Het
Patl2 T C 2: 122,123,810 T427A probably benign Het
Pdzd8 T A 19: 59,299,786 R1061W probably damaging Het
Plk3 A T 4: 117,132,997 L137* probably null Het
Shank1 T C 7: 44,354,236 V1784A possibly damaging Het
Smc1b A T 15: 85,131,898 S14T probably damaging Het
Sox4 C A 13: 28,952,681 R114L probably damaging Het
Speg C T 1: 75,388,102 R221W probably damaging Het
Tram1l1 T C 3: 124,322,139 V316A probably benign Het
Virma G T 4: 11,521,114 K840N probably damaging Het
Vmn1r49 A T 6: 90,072,412 S203T probably damaging Het
Wdr1 T C 5: 38,529,543 T293A probably benign Het
Xirp2 C T 2: 67,515,184 P2590S possibly damaging Het
Zfp106 T C 2: 120,535,035 Y297C possibly damaging Het
Zfp128 A G 7: 12,891,424 *573W probably null Het
Zfp575 G A 7: 24,585,757 P153L probably damaging Het
Other mutations in Rps6ka6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01696:Rps6ka6 APN X 111407517 missense probably benign 0.00
IGL03231:Rps6ka6 APN X 111450321 missense probably benign 0.12
R1840:Rps6ka6 UTSW X 111420932 missense possibly damaging 0.48
X0063:Rps6ka6 UTSW X 111412699 splice site probably null
Posted On2013-10-07