Incidental Mutation 'IGL01696:Rps6ka6'
ID 104278
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 # IGL01696
Quality Score
Status
Chromosome X
Chromosomal Location 110297889-110447656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110317214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 634 (Q634R)
Ref Sequence ENSEMBL: ENSMUSP00000080694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065976] [ENSMUST00000082034] [ENSMUST00000096348] [ENSMUST00000113428] [ENSMUST00000137712]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065976
AA Change: Q555R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000068483
Gene: ENSMUSG00000025665
AA Change: Q555R

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
AA Change: Q634R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000080694
Gene: ENSMUSG00000025665
AA Change: Q634R

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
AA Change: Q555R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094073
Gene: ENSMUSG00000025665
AA Change: Q555R

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
AA Change: Q555R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109055
Gene: ENSMUSG00000025665
AA Change: Q555R

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: ENSMUST00000137712
AA Change: Q534R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121722
Gene: ENSMUSG00000025665
AA Change: Q534R

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A G 5: 121,638,856 (GRCm39) S730P possibly damaging Het
Ano3 T G 2: 110,498,082 (GRCm39) D753A probably damaging Het
Apoc4 C T 7: 19,412,109 (GRCm39) C113Y probably damaging Het
Arhgdia A G 11: 120,471,202 (GRCm39) probably benign Het
Ccdc171 A G 4: 83,573,815 (GRCm39) T459A possibly damaging Het
Ccdc190 A C 1: 169,761,393 (GRCm39) K165T probably damaging Het
Dop1b T C 16: 93,567,128 (GRCm39) V1185A probably benign Het
Ednrb C T 14: 104,060,625 (GRCm39) V223I probably benign Het
Ermp1 T C 19: 29,623,538 (GRCm39) I151V possibly damaging Het
Gm15737 T A 6: 92,856,802 (GRCm39) probably benign Het
Herc3 A G 6: 58,837,371 (GRCm39) H348R possibly damaging Het
Immp2l G T 12: 41,675,590 (GRCm39) A95S probably damaging Het
Invs A G 4: 48,425,997 (GRCm39) Y928C probably damaging Het
Itprid1 A G 6: 55,874,680 (GRCm39) H210R probably benign Het
Or1l4 A G 2: 37,091,523 (GRCm39) E90G probably benign Het
Or7g17 A T 9: 18,768,352 (GRCm39) I135L probably benign Het
Or8c15 A C 9: 38,120,345 (GRCm39) probably benign Het
Pkd1l2 G T 8: 117,783,126 (GRCm39) S731R probably benign Het
Pkhd1l1 T C 15: 44,392,747 (GRCm39) M1694T possibly damaging Het
Pld2 C A 11: 70,433,606 (GRCm39) R212S probably damaging Het
Plekhg6 A G 6: 125,355,793 (GRCm39) F4L probably benign Het
Slc1a3 T C 15: 8,671,822 (GRCm39) E378G probably benign Het
Tmem184b T C 15: 79,262,729 (GRCm39) T43A possibly damaging Het
Ttn A G 2: 76,577,132 (GRCm39) V24587A probably damaging Het
Uba7 T A 9: 107,854,547 (GRCm39) L262Q probably damaging Het
Zfp954 G T 7: 7,118,397 (GRCm39) H382Q probably damaging Het
Other mutations in Rps6ka6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Rps6ka6 APN X 110,360,059 (GRCm39) splice site probably benign
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 2014-01-21