Incidental Mutation 'IGL02986:Rps6kc1'
ID406705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6kc1
Ensembl Gene ENSMUSG00000089872
Gene Nameribosomal protein S6 kinase polypeptide 1
SynonymsRPK118
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02986
Quality Score
Status
Chromosome1
Chromosomal Location190700202-190911770 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 190834061 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 329 (L329Q)
Ref Sequence ENSEMBL: ENSMUSP00000061769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061611] [ENSMUST00000159367] [ENSMUST00000159624]
Predicted Effect probably damaging
Transcript: ENSMUST00000061611
AA Change: L329Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: L329Q

DomainStartEndE-ValueType
PX 9 128 1.26e-13 SMART
low complexity region 160 175 N/A INTRINSIC
low complexity region 198 211 N/A INTRINSIC
MIT 235 313 1.12e-20 SMART
low complexity region 317 332 N/A INTRINSIC
SCOP:d1apme_ 347 417 2e-5 SMART
low complexity region 443 454 N/A INTRINSIC
low complexity region 576 587 N/A INTRINSIC
low complexity region 669 681 N/A INTRINSIC
Pfam:Pkinase 863 1046 4.4e-26 PFAM
Pfam:Pkinase_Tyr 876 1032 5.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159367
SMART Domains Protein: ENSMUSP00000124383
Gene: ENSMUSG00000089872

DomainStartEndE-ValueType
Blast:PX 9 50 4e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159624
SMART Domains Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872

DomainStartEndE-ValueType
PX 9 128 1.26e-13 SMART
low complexity region 160 175 N/A INTRINSIC
low complexity region 198 211 N/A INTRINSIC
Pfam:MIT 238 299 6.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159823
Predicted Effect probably benign
Transcript: ENSMUST00000160889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162500
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,178,854 V264A possibly damaging Het
Akr1c6 G T 13: 4,436,415 V74L probably benign Het
Atp10a T G 7: 58,828,721 V1504G probably benign Het
Ccng1 A G 11: 40,750,863 probably benign Het
Celsr3 A T 9: 108,841,255 probably null Het
Coro1b T C 19: 4,149,471 V43A possibly damaging Het
Dab1 A G 4: 104,479,221 T5A probably benign Het
Dennd5a C T 7: 109,935,524 A47T probably benign Het
Dgkb A G 12: 38,100,400 T69A possibly damaging Het
Dhx37 G A 5: 125,419,315 P721L probably damaging Het
Efr3b T C 12: 3,966,495 N641D probably benign Het
Espnl A T 1: 91,344,850 Q600L probably benign Het
Esyt1 A G 10: 128,516,757 V693A probably damaging Het
Fscn2 A G 11: 120,367,350 D366G possibly damaging Het
Gcsam C A 16: 45,620,003 F136L probably benign Het
Gm10643 A T 8: 84,064,258 probably benign Het
Habp2 A T 19: 56,311,192 D174V probably benign Het
Hgfac T C 5: 35,043,863 V210A probably benign Het
Hipk3 T C 2: 104,433,741 D804G probably damaging Het
L3mbtl1 T C 2: 162,970,305 W757R probably damaging Het
Lrrfip2 A G 9: 111,161,393 probably null Het
Ly75 T C 2: 60,308,191 D1444G probably damaging Het
Mars A G 10: 127,297,569 V765A probably benign Het
Med1 A G 11: 98,156,260 probably benign Het
Msln G A 17: 25,752,933 probably benign Het
Nup188 T A 2: 30,307,633 probably null Het
Olfr406 T G 11: 74,270,102 F238V possibly damaging Het
Olfr866 A T 9: 20,027,711 F76I probably benign Het
Otop2 T A 11: 115,329,567 M411K probably benign Het
Picalm A G 7: 90,207,585 I649M probably benign Het
Plekha8 T C 6: 54,629,866 L382P probably damaging Het
Pspn A G 17: 56,999,853 probably benign Het
Rnf215 A G 11: 4,139,793 T269A probably damaging Het
Srms T A 2: 181,212,497 R92S possibly damaging Het
Ssxb10 C A X: 8,335,606 S157* probably null Het
Tfap2c T C 2: 172,557,251 S448P probably damaging Het
Thsd7b A G 1: 129,915,615 N855D probably benign Het
Timeless A C 10: 128,249,760 D887A possibly damaging Het
Tyms T C 5: 30,061,999 Y169C probably damaging Het
Unc45b T A 11: 82,917,179 C207S probably damaging Het
Utp20 A G 10: 88,775,285 F1390S probably damaging Het
Vmn2r53 A T 7: 12,581,466 probably benign Het
Zfp369 A T 13: 65,280,281 D18V probably damaging Het
Other mutations in Rps6kc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Rps6kc1 APN 1 190773678 missense probably damaging 1.00
IGL01310:Rps6kc1 APN 1 190783625 missense probably benign 0.45
IGL01331:Rps6kc1 APN 1 190800352 missense possibly damaging 0.49
IGL01551:Rps6kc1 APN 1 190773640 missense possibly damaging 0.70
IGL01665:Rps6kc1 APN 1 190911657 missense possibly damaging 0.66
IGL02178:Rps6kc1 APN 1 190871836 missense possibly damaging 0.63
IGL02550:Rps6kc1 APN 1 190871862 missense probably damaging 1.00
IGL03010:Rps6kc1 APN 1 190911606 nonsense probably null
IGL03087:Rps6kc1 APN 1 190871711 missense probably damaging 1.00
IGL03130:Rps6kc1 APN 1 190799811 missense probably damaging 1.00
IGL03264:Rps6kc1 APN 1 190871829 missense probably benign
IGL03386:Rps6kc1 APN 1 190799570 missense probably damaging 0.97
R0184:Rps6kc1 UTSW 1 190799093 missense probably null 1.00
R0280:Rps6kc1 UTSW 1 190809000 missense probably damaging 1.00
R0482:Rps6kc1 UTSW 1 190799430 missense probably benign 0.00
R0651:Rps6kc1 UTSW 1 190799496 missense possibly damaging 0.51
R0785:Rps6kc1 UTSW 1 190808945 missense probably damaging 1.00
R1398:Rps6kc1 UTSW 1 190800015 missense probably damaging 0.99
R1428:Rps6kc1 UTSW 1 190798726 missense probably damaging 1.00
R1484:Rps6kc1 UTSW 1 190799475 missense possibly damaging 0.63
R1536:Rps6kc1 UTSW 1 190871768 missense possibly damaging 0.89
R1709:Rps6kc1 UTSW 1 190800336 missense possibly damaging 0.72
R2060:Rps6kc1 UTSW 1 190810108 missense possibly damaging 0.94
R2153:Rps6kc1 UTSW 1 190798723 missense probably damaging 1.00
R2871:Rps6kc1 UTSW 1 190899569 missense probably damaging 1.00
R2871:Rps6kc1 UTSW 1 190899569 missense probably damaging 1.00
R4177:Rps6kc1 UTSW 1 190800419 missense possibly damaging 0.92
R4231:Rps6kc1 UTSW 1 190808900 missense probably damaging 1.00
R4401:Rps6kc1 UTSW 1 190799958 missense probably benign 0.32
R4402:Rps6kc1 UTSW 1 190798605 intron probably benign
R4785:Rps6kc1 UTSW 1 190750188 missense probably benign 0.00
R4810:Rps6kc1 UTSW 1 190808963 missense probably damaging 1.00
R4858:Rps6kc1 UTSW 1 190800318 missense probably damaging 1.00
R4887:Rps6kc1 UTSW 1 190798694 missense probably benign 0.13
R4976:Rps6kc1 UTSW 1 190798727 missense probably damaging 0.99
R5134:Rps6kc1 UTSW 1 190773648 missense probably damaging 1.00
R5217:Rps6kc1 UTSW 1 190783605 missense probably damaging 1.00
R5350:Rps6kc1 UTSW 1 190799466 missense probably benign
R5952:Rps6kc1 UTSW 1 190885420 missense probably benign 0.05
R5979:Rps6kc1 UTSW 1 190800435 missense probably damaging 1.00
R6597:Rps6kc1 UTSW 1 190750184 missense probably benign 0.20
R7024:Rps6kc1 UTSW 1 190800210 missense probably benign 0.00
R7192:Rps6kc1 UTSW 1 190800359 missense probably damaging 0.98
R7423:Rps6kc1 UTSW 1 190799096 missense probably damaging 1.00
Posted On2016-08-02