Incidental Mutation 'R9370:Rps6kc1'
ID 709255
Institutional Source Beutler Lab
Gene Symbol Rps6kc1
Ensembl Gene ENSMUSG00000089872
Gene Name ribosomal protein S6 kinase polypeptide 1
Synonyms B130003F20Rik, RPK118
MMRRC Submission 068964-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9370 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 190505076-190645207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 190531222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 927 (L927V)
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 damaging
Transcript: ENSMUST00000061611
AA Change: L927V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: L927V

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 probably benign
Transcript: ENSMUST00000160889
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1d1 T A 6: 37,544,099 (GRCm39) *326R probably null Het
Cntn5 T A 9: 9,833,520 (GRCm39) I344F probably benign Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Eln C T 5: 134,741,476 (GRCm39) V563I unknown Het
Epb41l5 T C 1: 119,561,312 (GRCm39) Y83C probably damaging Het
Epha8 T C 4: 136,673,511 (GRCm39) D91G possibly damaging Het
Fscn3 T C 6: 28,434,535 (GRCm39) V370A probably benign Het
Gcc2 A G 10: 58,131,940 (GRCm39) N1550S probably benign Het
Gck T C 11: 5,852,244 (GRCm39) D365G possibly damaging Het
Hhatl C T 9: 121,617,836 (GRCm39) G251E possibly damaging Het
Hspa12a A G 19: 58,813,708 (GRCm39) F139S probably damaging Het
Ikzf2 T C 1: 69,578,018 (GRCm39) D497G probably damaging Het
Ino80 A G 2: 119,232,848 (GRCm39) S1157P probably damaging Het
Jmjd6 A G 11: 116,729,952 (GRCm39) I315T probably benign Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lyst C T 13: 13,935,333 (GRCm39) H3601Y probably damaging Het
Mars2 T C 1: 55,276,624 (GRCm39) S76P probably benign Het
Mtmr10 A G 7: 63,969,249 (GRCm39) E337G probably benign Het
Myo5b A G 18: 74,760,246 (GRCm39) D254G possibly damaging Het
Nell1 A T 7: 49,770,292 (GRCm39) E117V probably damaging Het
Pcdhgb7 T C 18: 37,884,937 (GRCm39) S36P possibly damaging Het
Sacs T A 14: 61,441,080 (GRCm39) I1042N probably damaging Het
Skint2 A G 4: 112,481,259 (GRCm39) N41D possibly damaging Het
Slc5a11 A G 7: 122,834,855 (GRCm39) T5A probably benign Het
Tbc1d22a C T 15: 86,123,441 (GRCm39) T194I probably benign Het
Tmem234 T A 4: 129,500,922 (GRCm39) V93D probably damaging Het
Trim43b T C 9: 88,971,559 (GRCm39) E199G probably benign Het
Ttc24 A T 3: 87,980,136 (GRCm39) V148E probably benign Het
Utp15 A G 13: 98,387,119 (GRCm39) F434L probably damaging Het
Vmn2r81 A G 10: 79,104,424 (GRCm39) Y349C probably damaging Het
Xpo5 T A 17: 46,546,844 (GRCm39) V865E probably damaging Het
Zfhx3 C T 8: 109,521,340 (GRCm39) R821C probably damaging Het
Zfp90 A G 8: 107,145,791 (GRCm39) D41G probably damaging Het
Zzef1 T A 11: 72,744,148 (GRCm39) C835S probably 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
R7718:Rps6kc1 UTSW 1 190,604,022 (GRCm39) missense probably benign 0.13
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
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'- ATTTTCTGCAGAAGCGAACTG -3'
(R):5'- AGGAAATCCATCAGATCTTTGAGG -3'

Sequencing Primer
(F):5'- CTGCAGAAGCGAACTGTAATTACTC -3'
(R):5'- ATCCATCAGATCTTTGAGGACCTGG -3'
Posted On 2022-04-18