Incidental Mutation 'R2871:Rps6kc1'
ID 266562
Institutional Source Beutler Lab
Gene Symbol Rps6kc1
Ensembl Gene ENSMUSG00000089872
Gene Name ribosomal protein S6 kinase polypeptide 1
Synonyms B130003F20Rik, RPK118
MMRRC Submission 040459-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2871 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 190505076-190645207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 190631766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 48 (I48M)
Ref Sequence ENSEMBL: ENSMUSP00000125010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061611] [ENSMUST00000159066] [ENSMUST00000159367] [ENSMUST00000159624]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000061611
AA Change: I48M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: I48M

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 damaging
Transcript: ENSMUST00000159066
AA Change: I36M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124558
Gene: ENSMUSG00000089872
AA Change: I36M

DomainStartEndE-ValueType
PX 9 116 1.36e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159367
SMART Domains Protein: ENSMUSP00000124383
Gene: ENSMUSG00000089872

DomainStartEndE-ValueType
Blast:PX 9 50 4e-22 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000159624
AA Change: I48M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872
AA Change: I48M

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: ENSMUST00000162500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162692
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,846,002 (GRCm39) C811R possibly damaging Het
Akap8l G A 17: 32,557,416 (GRCm39) T65I possibly damaging Het
Amdhd2 A G 17: 24,376,829 (GRCm39) probably benign Het
Arid4a T A 12: 71,069,034 (GRCm39) probably null Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
C030034I22Rik T A 17: 69,725,106 (GRCm39) noncoding transcript Het
Ccnb1-ps C A 7: 41,755,499 (GRCm39) noncoding transcript Het
Cfap54 A T 10: 92,757,281 (GRCm39) F273I possibly damaging Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Eml5 C T 12: 98,831,660 (GRCm39) D433N probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Homo
Ftdc1 A T 16: 58,434,342 (GRCm39) I125K probably benign Het
Gm21759 T A 5: 8,230,863 (GRCm39) probably benign Het
Gm5454 C A 13: 103,494,031 (GRCm39) noncoding transcript Het
Gm9874 A T 17: 30,704,763 (GRCm39) probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Grid2ip C A 5: 143,343,684 (GRCm39) Q127K probably benign Het
Habp2 T A 19: 56,276,423 (GRCm39) probably benign Het
Hdhd2 T C 18: 77,042,702 (GRCm39) F44L probably damaging Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Ift172 C T 5: 31,415,205 (GRCm39) V1335I probably benign Het
Ighv2-2 G A 12: 113,552,118 (GRCm39) T40I possibly damaging Het
Kcnk10 T A 12: 98,401,072 (GRCm39) R520S probably benign Het
Kif1c A G 11: 70,614,907 (GRCm39) E567G probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Homo
Kpna7 T C 5: 144,930,745 (GRCm39) T367A probably benign Het
Lpo A G 11: 87,707,350 (GRCm39) I221T possibly damaging Het
Lrrn3 T C 12: 41,502,722 (GRCm39) I532V probably benign Het
Mapk7 C A 11: 61,381,038 (GRCm39) probably benign Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mki67 G A 7: 135,309,878 (GRCm39) P191L probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mpp7 G A 18: 7,461,678 (GRCm39) P65L possibly damaging Het
Msh2 C A 17: 87,993,012 (GRCm39) Q314K possibly damaging Het
Mtm1 T C X: 70,339,968 (GRCm39) probably benign Homo
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nav1 A G 1: 135,388,495 (GRCm39) silent Het
Nell1 A T 7: 49,899,405 (GRCm39) probably benign Het
Nlrp4b C T 7: 10,444,170 (GRCm39) Q40* probably null Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Npas3 C T 12: 54,114,796 (GRCm39) R542* probably null Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or13a17 A G 7: 140,271,198 (GRCm39) I127V possibly damaging Het
Or13j1 C A 4: 43,706,458 (GRCm39) V37L probably benign Het
Or5t16 A T 2: 86,819,192 (GRCm39) C109* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pcnx3 A T 19: 5,733,774 (GRCm39) probably benign Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Pkp4 C A 2: 59,138,500 (GRCm39) T250K probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Homo
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Psmd13 A T 7: 140,466,968 (GRCm39) T116S probably damaging Het
Rel T C 11: 23,711,129 (GRCm39) I13V probably benign Het
Reln C T 5: 22,254,789 (GRCm39) V527I possibly damaging Het
Rnf6 T C 5: 146,147,215 (GRCm39) Y601C probably benign Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Son A G 16: 91,461,205 (GRCm39) probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vmn2r70 T A 7: 85,208,227 (GRCm39) Y750F probably damaging Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign Het
Zzz3 T A 3: 152,152,481 (GRCm39) silent 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
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
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'- GCAAGTGTGCGGTTCTCATG -3'
(R):5'- CAAGTCAAATCAACAGCCTTAGGG -3'

Sequencing Primer
(F):5'- CAAGTGTGCGGTTCTCATGACATG -3'
(R):5'- CCTTAGGGAGAAGTGCTGC -3'
Posted On 2015-02-18