Incidental Mutation 'IGL00465:Rps6kl1'
ID332149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6kl1
Ensembl Gene ENSMUSG00000019235
Gene Nameribosomal protein S6 kinase-like 1
SynonymsA830084F09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00465
Quality Score
Status
Chromosome12
Chromosomal Location85135249-85151264 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85139429 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 276 (S276P)
Ref Sequence ENSEMBL: ENSMUSP00000019379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019379] [ENSMUST00000221357] [ENSMUST00000221972]
Predicted Effect probably benign
Transcript: ENSMUST00000019379
AA Change: S276P

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: S276P

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
MIT 46 123 8.99e-25 SMART
low complexity region 155 166 N/A INTRINSIC
Pfam:Pkinase_Tyr 178 519 1.9e-12 PFAM
Pfam:Pkinase 367 534 1.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221357
Predicted Effect probably benign
Transcript: ENSMUST00000221972
AA Change: S302P

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222232
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A G 7: 140,294,842 Y411C probably damaging Het
A1bg A T 15: 60,921,253 S2T probably damaging Het
Adamts13 T A 2: 26,973,555 W7R probably benign Het
Anks6 T A 4: 47,046,054 D279V probably damaging Het
C4bp A T 1: 130,639,134 L335Q probably damaging Het
Cd109 A T 9: 78,660,934 K299* probably null Het
Cd200r2 A T 16: 44,909,288 H102L probably damaging Het
Col12a1 A G 9: 79,697,581 Y662H probably damaging Het
Cyp2c37 T C 19: 40,001,997 F380L probably benign Het
Deup1 A G 9: 15,561,370 S549P probably damaging Het
Dysf G T 6: 84,199,848 probably null Het
Etaa1 A T 11: 17,947,825 C166* probably null Het
Fam227b T C 2: 126,144,325 probably null Het
Gucy1b2 T G 14: 62,403,200 Q752P probably benign Het
Hal T C 10: 93,490,069 probably null Het
Hao1 C A 2: 134,554,270 K21N probably damaging Het
Itga4 T C 2: 79,292,050 F536L probably benign Het
Lmod3 A T 6: 97,247,861 I333N probably damaging Het
Mgme1 T A 2: 144,279,516 D297E probably damaging Het
Myh2 G T 11: 67,178,833 probably benign Het
Myo7a A G 7: 98,102,626 M70T probably damaging Het
Nav3 T C 10: 109,852,746 T557A probably damaging Het
Nif3l1 C A 1: 58,455,686 H271Q possibly damaging Het
Nostrin A G 2: 69,185,554 probably benign Het
Nxn C A 11: 76,274,655 probably benign Het
Pcdhb22 A T 18: 37,520,132 D551V probably damaging Het
Pde4d A G 13: 109,936,687 D339G possibly damaging Het
Pkp4 T A 2: 59,338,755 S408T probably damaging Het
Pxmp2 T C 5: 110,283,716 T54A probably benign Het
Rif1 T A 2: 52,121,007 V2362E probably damaging Het
Scaf4 C A 16: 90,247,281 M601I unknown Het
Setd7 T A 3: 51,550,308 T33S probably benign Het
Shroom1 T A 11: 53,464,094 D280E probably benign Het
Slc35f2 G T 9: 53,798,014 probably null Het
Slitrk3 T A 3: 73,051,103 N112I probably damaging Het
Spag1 A G 15: 36,183,821 probably benign Het
Stx6 C T 1: 155,201,933 probably benign Het
Sun1 A T 5: 139,234,685 probably null Het
Tbl1xr1 G A 3: 22,192,268 probably null Het
Tmc2 T C 2: 130,261,304 S787P possibly damaging Het
Traf3ip3 C T 1: 193,194,820 probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Trpm1 G T 7: 64,247,467 M272I possibly damaging Het
Ttc21b T C 2: 66,242,775 E189G probably benign Het
Tubd1 T C 11: 86,555,068 probably benign Het
Vps13a T A 19: 16,752,175 T167S probably damaging Het
Zbtb3 A G 19: 8,803,665 D214G possibly damaging Het
Zfp658 A G 7: 43,567,356 D50G probably benign Het
Zfp976 T A 7: 42,613,685 I243L unknown Het
Other mutations in Rps6kl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Rps6kl1 APN 12 85139383 missense probably benign 0.01
IGL01372:Rps6kl1 APN 12 85146889 missense probably damaging 1.00
IGL02378:Rps6kl1 APN 12 85138674 missense probably damaging 0.98
IGL02930:Rps6kl1 APN 12 85149774 missense probably benign
R2059:Rps6kl1 UTSW 12 85139623 missense probably benign 0.17
R4467:Rps6kl1 UTSW 12 85147808 missense probably damaging 1.00
R4738:Rps6kl1 UTSW 12 85140387 missense probably benign 0.40
R5120:Rps6kl1 UTSW 12 85139348 missense probably damaging 1.00
R5415:Rps6kl1 UTSW 12 85139381 missense probably benign 0.00
R5593:Rps6kl1 UTSW 12 85146901 missense possibly damaging 0.88
R5669:Rps6kl1 UTSW 12 85147867 missense probably damaging 1.00
Z1176:Rps6kl1 UTSW 12 85139355 missense probably benign 0.06
Z1177:Rps6kl1 UTSW 12 85147814 missense probably damaging 0.98
Posted On2015-08-05