Incidental Mutation 'R7718:Rps6kc1'
ID 595011
Institutional Source Beutler Lab
Gene Symbol Rps6kc1
Ensembl Gene ENSMUSG00000089872
Gene Name ribosomal protein S6 kinase polypeptide 1
Synonyms B130003F20Rik, RPK118
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 190505076-190645207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 190604022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 200 (D200G)
Ref Sequence ENSEMBL: ENSMUSP00000061769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061611] [ENSMUST00000159367] [ENSMUST00000159624]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000061611
AA Change: D200G

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: D200G

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
AA Change: D200G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872
AA Change: D200G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging Het
Other mutations in Rps6kc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Rps6kc1 APN 1 190,505,875 (GRCm39) missense probably damaging 1.00
IGL01310:Rps6kc1 APN 1 190,515,822 (GRCm39) missense probably benign 0.45
IGL01331:Rps6kc1 APN 1 190,532,549 (GRCm39) missense possibly damaging 0.49
IGL01551:Rps6kc1 APN 1 190,505,837 (GRCm39) missense possibly damaging 0.70
IGL01665:Rps6kc1 APN 1 190,643,854 (GRCm39) missense possibly damaging 0.66
IGL02178:Rps6kc1 APN 1 190,604,033 (GRCm39) missense possibly damaging 0.63
IGL02550:Rps6kc1 APN 1 190,604,059 (GRCm39) missense probably damaging 1.00
IGL02986:Rps6kc1 APN 1 190,566,258 (GRCm39) missense probably damaging 1.00
IGL03010:Rps6kc1 APN 1 190,643,803 (GRCm39) nonsense probably null
IGL03087:Rps6kc1 APN 1 190,603,908 (GRCm39) missense probably damaging 1.00
IGL03130:Rps6kc1 APN 1 190,532,008 (GRCm39) missense probably damaging 1.00
IGL03264:Rps6kc1 APN 1 190,604,026 (GRCm39) missense probably benign
IGL03386:Rps6kc1 APN 1 190,531,767 (GRCm39) missense probably damaging 0.97
R0184:Rps6kc1 UTSW 1 190,531,290 (GRCm39) missense probably null 1.00
R0280:Rps6kc1 UTSW 1 190,541,197 (GRCm39) missense probably damaging 1.00
R0482:Rps6kc1 UTSW 1 190,531,627 (GRCm39) missense probably benign 0.00
R0651:Rps6kc1 UTSW 1 190,531,693 (GRCm39) missense possibly damaging 0.51
R0785:Rps6kc1 UTSW 1 190,541,142 (GRCm39) missense probably damaging 1.00
R1398:Rps6kc1 UTSW 1 190,532,212 (GRCm39) missense probably damaging 0.99
R1428:Rps6kc1 UTSW 1 190,530,923 (GRCm39) missense probably damaging 1.00
R1484:Rps6kc1 UTSW 1 190,531,672 (GRCm39) missense possibly damaging 0.63
R1536:Rps6kc1 UTSW 1 190,603,965 (GRCm39) missense possibly damaging 0.89
R1709:Rps6kc1 UTSW 1 190,532,533 (GRCm39) missense possibly damaging 0.72
R2060:Rps6kc1 UTSW 1 190,542,305 (GRCm39) missense possibly damaging 0.94
R2153:Rps6kc1 UTSW 1 190,530,920 (GRCm39) missense probably damaging 1.00
R2871:Rps6kc1 UTSW 1 190,631,766 (GRCm39) missense probably damaging 1.00
R2871:Rps6kc1 UTSW 1 190,631,766 (GRCm39) missense probably damaging 1.00
R4177:Rps6kc1 UTSW 1 190,532,616 (GRCm39) missense possibly damaging 0.92
R4231:Rps6kc1 UTSW 1 190,541,097 (GRCm39) missense probably damaging 1.00
R4401:Rps6kc1 UTSW 1 190,532,155 (GRCm39) missense probably benign 0.32
R4402:Rps6kc1 UTSW 1 190,530,802 (GRCm39) intron probably benign
R4785:Rps6kc1 UTSW 1 190,482,385 (GRCm39) missense probably benign 0.00
R4810:Rps6kc1 UTSW 1 190,541,160 (GRCm39) missense probably damaging 1.00
R4858:Rps6kc1 UTSW 1 190,532,515 (GRCm39) missense probably damaging 1.00
R4887:Rps6kc1 UTSW 1 190,530,891 (GRCm39) missense probably benign 0.13
R4976:Rps6kc1 UTSW 1 190,530,924 (GRCm39) missense probably damaging 0.99
R5134:Rps6kc1 UTSW 1 190,505,845 (GRCm39) missense probably damaging 1.00
R5217:Rps6kc1 UTSW 1 190,515,802 (GRCm39) missense probably damaging 1.00
R5350:Rps6kc1 UTSW 1 190,531,663 (GRCm39) missense probably benign
R5952:Rps6kc1 UTSW 1 190,617,617 (GRCm39) missense probably benign 0.05
R5979:Rps6kc1 UTSW 1 190,532,632 (GRCm39) missense probably damaging 1.00
R6597:Rps6kc1 UTSW 1 190,482,381 (GRCm39) missense probably benign 0.20
R7024:Rps6kc1 UTSW 1 190,532,407 (GRCm39) missense probably benign 0.00
R7192:Rps6kc1 UTSW 1 190,532,556 (GRCm39) missense probably damaging 0.98
R7423:Rps6kc1 UTSW 1 190,531,293 (GRCm39) missense probably damaging 1.00
R7493:Rps6kc1 UTSW 1 190,532,254 (GRCm39) missense probably benign 0.26
R7783:Rps6kc1 UTSW 1 190,505,851 (GRCm39) missense probably benign 0.39
R7794:Rps6kc1 UTSW 1 190,515,825 (GRCm39) missense probably benign 0.05
R7972:Rps6kc1 UTSW 1 190,531,321 (GRCm39) missense probably benign 0.14
R9236:Rps6kc1 UTSW 1 190,532,200 (GRCm39) missense probably damaging 1.00
R9370:Rps6kc1 UTSW 1 190,531,222 (GRCm39) missense probably damaging 1.00
R9586:Rps6kc1 UTSW 1 190,514,774 (GRCm39) missense probably benign 0.03
R9756:Rps6kc1 UTSW 1 190,604,021 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCTGTAAAAGTCAGAAGCAGC -3'
(R):5'- ATGGCAGTATGTGTGACCTG -3'

Sequencing Primer
(F):5'- GTCAGAAGCAGCTTCATAGTCATC -3'
(R):5'- CAGTATGTGTGACCTGTGCCC -3'
Posted On 2019-11-12