Incidental Mutation 'IGL01296:Rps6kc1'
ID 73137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6kc1
Ensembl Gene ENSMUSG00000089872
Gene Name ribosomal protein S6 kinase polypeptide 1
Synonyms B130003F20Rik, RPK118
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01296
Quality Score
Status
Chromosome 1
Chromosomal Location 190505076-190645207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 190505875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1029 (R1029H)
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: R1029H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: R1029H

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,880,864 (GRCm39) S301P probably damaging Het
Adam34 A G 8: 44,104,178 (GRCm39) V489A possibly damaging Het
Adcy8 G A 15: 64,655,628 (GRCm39) T617I probably damaging Het
Aggf1 T C 13: 95,490,479 (GRCm39) D605G probably damaging Het
Atp10a T A 7: 58,463,373 (GRCm39) F969I probably benign Het
Becn1 A T 11: 101,182,277 (GRCm39) N97K probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Crtac1 A T 19: 42,272,652 (GRCm39) C578S probably damaging Het
Dcp1b A G 6: 119,192,319 (GRCm39) K412E probably damaging Het
Dlg2 T A 7: 91,589,267 (GRCm39) I327N probably damaging Het
Ehf T A 2: 103,098,500 (GRCm39) probably null Het
Elavl4 T C 4: 110,063,809 (GRCm39) N264S probably benign Het
Enpp2 A T 15: 54,739,065 (GRCm39) I406N probably damaging Het
F10 A T 8: 13,105,383 (GRCm39) Y316F possibly damaging Het
Fam20a A G 11: 109,576,177 (GRCm39) I194T possibly damaging Het
Fcgbp T C 7: 27,789,072 (GRCm39) V546A probably benign Het
Fras1 A T 5: 96,821,557 (GRCm39) Q1438L probably null Het
Gm43638 T C 5: 87,608,451 (GRCm39) I463V probably benign Het
H2-T10 T C 17: 36,431,602 (GRCm39) D84G probably benign Het
Itpr1 T C 6: 108,376,322 (GRCm39) F1262L probably damaging Het
Lama1 A G 17: 68,052,046 (GRCm39) N335D probably benign Het
Lasp1 T C 11: 97,727,016 (GRCm39) V246A probably damaging Het
Lrrk2 A T 15: 91,567,345 (GRCm39) I135L probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mctp2 T C 7: 71,878,274 (GRCm39) K268R probably benign Het
Nbea A T 3: 55,938,957 (GRCm39) H710Q probably benign Het
Notch3 G A 17: 32,385,731 (GRCm39) R13C unknown Het
Ogfod1 A T 8: 94,782,299 (GRCm39) probably benign Het
Or1j11 A G 2: 36,311,716 (GRCm39) Y102C probably benign Het
Or5b111 A G 19: 13,291,490 (GRCm39) L53P probably damaging Het
Or8d2 T C 9: 38,759,548 (GRCm39) I46T probably damaging Het
Pgm3 A G 9: 86,443,932 (GRCm39) V324A probably damaging Het
Ppfia2 A T 10: 106,694,068 (GRCm39) I681F probably damaging Het
Prss23 T C 7: 89,159,095 (GRCm39) K325E possibly damaging Het
Psmd7 T A 8: 108,313,249 (GRCm39) probably benign Het
Rfx2 T A 17: 57,115,317 (GRCm39) M1L possibly damaging Het
Rpa1 T C 11: 75,203,141 (GRCm39) Y418C probably damaging Het
Septin10 A G 10: 59,002,422 (GRCm39) V391A probably benign Het
Skint6 A G 4: 113,093,637 (GRCm39) F169L probably benign Het
Slc44a4 C T 17: 35,140,674 (GRCm39) T289I probably benign Het
Spata31e5 T C 1: 28,816,137 (GRCm39) I632V probably benign Het
Srl T C 16: 4,315,546 (GRCm39) D32G probably damaging Het
Stxbp3-ps T A 19: 9,535,256 (GRCm39) noncoding transcript Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Tmprss7 A G 16: 45,504,937 (GRCm39) V151A probably damaging Het
Trmo A G 4: 46,387,589 (GRCm39) L84P probably damaging Het
Vmn2r98 T A 17: 19,285,447 (GRCm39) I89N probably damaging Het
Zcwpw1 G A 5: 137,795,061 (GRCm39) A86T probably benign Het
Zkscan16 A G 4: 58,956,690 (GRCm39) H324R possibly damaging Het
Other mutations in Rps6kc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07