Incidental Mutation 'IGL02930:Rps6kl1'
ID364042
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 #IGL02930
Quality Score
Status
Chromosome12
Chromosomal Location85135249-85151264 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85149774 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 39 (T39A)
Ref Sequence ENSEMBL: ENSMUSP00000152336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019379] [ENSMUST00000221972]
Predicted Effect probably benign
Transcript: ENSMUST00000019379
AA Change: T39A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: T39A

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: ENSMUST00000221972
AA Change: T39A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223399
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,226 N3433S possibly damaging Het
Actl9 T C 17: 33,434,099 S378P probably damaging Het
Aldh6a1 C A 12: 84,433,982 L426F possibly damaging Het
Ankef1 T C 2: 136,550,325 I478T possibly damaging Het
Cabs1 A G 5: 87,979,886 D132G probably damaging Het
Ccdc39 T C 3: 33,825,494 E475G probably damaging Het
Cmtm2b A C 8: 104,329,770 M104L probably benign Het
Cops2 T C 2: 125,832,189 probably benign Het
Dnajc4 C A 19: 6,989,433 V176F possibly damaging Het
Eepd1 A G 9: 25,483,240 N267D probably damaging Het
Elobl T G 11: 88,965,186 D17A possibly damaging Het
Erich6 G A 3: 58,622,354 probably benign Het
Flna G A X: 74,223,900 R2548C probably damaging Het
Gm6878 T G 14: 67,310,990 probably benign Het
Gpc1 G T 1: 92,857,299 E355* probably null Het
Islr C T 9: 58,158,200 probably benign Het
Mex3a A T 3: 88,536,225 I203L probably benign Het
Olfr482 A T 7: 108,095,414 I52N probably damaging Het
Olfr794 T C 10: 129,571,315 I220T probably damaging Het
Olfr938 G T 9: 39,078,012 H244Q probably damaging Het
Prokr2 T C 2: 132,373,474 S195G probably benign Het
Pyroxd1 A T 6: 142,359,052 D335V probably damaging Het
Rusc2 G A 4: 43,416,376 A561T probably damaging Het
Sel1l3 A C 5: 53,123,217 V937G possibly damaging Het
Sh3pxd2b A G 11: 32,417,161 T382A possibly damaging Het
Tbx21 A G 11: 97,100,039 I271T probably damaging Het
Timeless T C 10: 128,247,191 V632A probably benign Het
Tle3 A G 9: 61,394,699 N67S possibly damaging Het
Tln2 G A 9: 67,393,662 R95* probably null Het
Trim24 A G 6: 37,951,445 probably benign Het
Uggt1 A T 1: 36,157,456 D1253E probably benign Het
Vmn1r8 A G 6: 57,036,594 K210R probably benign Het
Other mutations in Rps6kl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Rps6kl1 APN 12 85139429 missense probably benign 0.43
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
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 On2015-12-18