Incidental Mutation 'IGL03231:Rps6ka6'
ID413917
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 #IGL03231
Quality Score
Status
ChromosomeX
Chromosomal Location111388192-111537959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111450321 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 43 (T43S)
Ref Sequence ENSEMBL: ENSMUSP00000121489 (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
AA Change: T55S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068483
Gene: ENSMUSG00000025665
AA Change: T55S

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: T134S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000080694
Gene: ENSMUSG00000025665
AA Change: T134S

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: T55S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094073
Gene: ENSMUSG00000025665
AA Change: T55S

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: T55S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109055
Gene: ENSMUSG00000025665
AA Change: T55S

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 unknown
Transcript: ENSMUST00000123102
AA Change: N37I
Predicted Effect probably benign
Transcript: ENSMUST00000123213
AA Change: T55S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118075
Gene: ENSMUSG00000025665
AA Change: T55S

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
AA Change: T134S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000128819
AA Change: T134S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117228
Gene: ENSMUSG00000025665
AA Change: T134S

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
AA Change: T133S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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
AA Change: T43S

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000121489
Gene: ENSMUSG00000025665
AA Change: T43S

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,268,702 T526A probably benign Het
9530053A07Rik A G 7: 28,153,722 E1478G possibly damaging Het
Abca9 A C 11: 110,155,268 F277V probably damaging Het
Arel1 T A 12: 84,934,310 T308S probably benign Het
Asic1 T A 15: 99,699,102 H548Q probably benign Het
B3galt1 T C 2: 68,118,603 Y221H probably damaging Het
Brs3 G T X: 57,045,444 C221F probably benign Het
C77080 C T 4: 129,223,681 V385I possibly damaging Het
Capn7 G A 14: 31,355,290 G322R probably damaging Het
Ccdc138 T C 10: 58,573,706 L619P probably damaging Het
Cdh22 C T 2: 165,116,206 V614I probably benign Het
Dnah5 C T 15: 28,311,148 R1758W probably damaging Het
Dr1 T C 5: 108,275,608 V87A probably benign Het
F830045P16Rik A G 2: 129,460,473 S400P probably damaging Het
Fyb2 T A 4: 104,986,263 Y353* probably null Het
Gm28043 A G 17: 29,635,942 D457G probably damaging Het
Gsap T C 5: 21,229,166 V260A probably damaging Het
Kcnt2 A T 1: 140,534,002 probably benign Het
Magee2 A T X: 104,856,338 L236M probably damaging Het
Map4k3 A T 17: 80,597,675 V729E probably damaging Het
Myh13 A G 11: 67,351,991 E910G possibly damaging Het
Nbeal1 G T 1: 60,236,459 A651S probably benign Het
Nuak2 A T 1: 132,328,177 D188V probably damaging Het
Nup210l A G 3: 90,189,545 T1354A probably damaging Het
Olfr1494 A T 19: 13,749,385 Q93L probably benign Het
Pof1b C T X: 112,645,290 S506N possibly damaging Het
Prrt3 A G 6: 113,497,524 S246P possibly damaging Het
Slc19a2 G T 1: 164,260,880 W98L probably damaging Het
Snap29 C T 16: 17,427,100 S195L probably benign Het
Stt3b C T 9: 115,243,994 G815S unknown Het
Tm9sf2 T G 14: 122,141,252 I256R possibly damaging Het
Tpbpb A T 13: 60,902,182 N44K probably damaging Het
Trim13 A G 14: 61,605,545 E337G probably benign Het
Trmt6 A T 2: 132,815,836 D33E probably benign Het
Trpm6 T A 19: 18,819,181 S800R probably benign Het
V1rd19 A G 7: 24,003,903 I265V probably benign Het
Xkrx A G X: 134,150,642 L420P probably damaging Het
Zfp618 T C 4: 63,094,479 Y167H probably damaging Het
Other mutations in Rps6ka6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Rps6ka6 APN X 111450362 splice site probably benign
IGL01696:Rps6ka6 APN X 111407517 missense probably benign 0.00
R1840:Rps6ka6 UTSW X 111420932 missense possibly damaging 0.48
X0063:Rps6ka6 UTSW X 111412699 splice site probably null
Posted On2016-08-02