Incidental Mutation 'R5415:Rps6kl1'
ID 427690
Institutional Source Beutler Lab
Gene Symbol Rps6kl1
Ensembl Gene ENSMUSG00000019235
Gene Name ribosomal protein S6 kinase-like 1
Synonyms A830084F09Rik
MMRRC Submission 042984-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5415 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85182023-85198038 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85186155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 292 (C292S)
Ref Sequence ENSEMBL: ENSMUSP00000019379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019379] [ENSMUST00000221357] [ENSMUST00000221972]
AlphaFold Q8R2S1
Predicted Effect probably benign
Transcript: ENSMUST00000019379
AA Change: C292S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: C292S

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: C318S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222232
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef18 G A 8: 3,438,075 (GRCm39) R303H probably damaging Het
Ark2c C A 18: 77,554,435 (GRCm39) V60L probably damaging Het
Asb15 A T 6: 24,570,690 (GRCm39) Q556L probably benign Het
Ccr1 G T 9: 123,764,413 (GRCm39) P39H probably damaging Het
Cd177 A T 7: 24,451,816 (GRCm39) L400Q probably damaging Het
Cfap298 G T 16: 90,722,953 (GRCm39) D260E probably benign Het
Cideb T C 14: 55,995,312 (GRCm39) E58G probably damaging Het
Drd2 A G 9: 49,313,553 (GRCm39) K241E possibly damaging Het
Ect2 C T 3: 27,201,002 (GRCm39) C126Y probably damaging Het
Eef1d T C 15: 75,775,030 (GRCm39) T210A probably benign Het
Enpp2 G A 15: 54,745,552 (GRCm39) H315Y probably damaging Het
Ero1b A T 13: 12,616,656 (GRCm39) M362L probably benign Het
Exosc2 A G 2: 31,562,578 (GRCm39) K73E possibly damaging Het
Gm9637 T A 14: 19,402,143 (GRCm38) noncoding transcript Het
Gstm5 A G 3: 107,804,811 (GRCm39) D101G probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kmt2c T C 5: 25,519,699 (GRCm39) D2137G probably benign Het
Mecom T C 3: 30,011,675 (GRCm39) D619G possibly damaging Het
Met A G 6: 17,527,084 (GRCm39) I512V probably benign Het
Myh15 A G 16: 48,937,658 (GRCm39) K753R probably null Het
Nfatc4 A G 14: 56,070,091 (GRCm39) D753G probably benign Het
Or2l5 T A 16: 19,333,996 (GRCm39) H130L possibly damaging Het
Or4c113 T A 2: 88,885,240 (GRCm39) T177S probably benign Het
Or4c12 T A 2: 89,773,731 (GRCm39) T243S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp9 C T 16: 35,763,752 (GRCm39) A10V probably damaging Het
Pcdh8 C A 14: 80,007,688 (GRCm39) E292* probably null Het
Pdpn A T 4: 142,995,788 (GRCm39) V161D probably damaging Het
Peg3 A G 7: 6,711,628 (GRCm39) V1198A probably benign Het
Phykpl T C 11: 51,476,342 (GRCm39) S21P probably benign Het
Plcb1 G T 2: 135,189,322 (GRCm39) V817F possibly damaging Het
Polk T C 13: 96,620,463 (GRCm39) Y579C probably benign Het
Ppp1r18 A G 17: 36,178,511 (GRCm39) N129D probably benign Het
Psg29 C A 7: 16,945,561 (GRCm39) probably null Het
Rims4 C T 2: 163,760,596 (GRCm39) R3H probably benign Het
Uaca G T 9: 60,777,421 (GRCm39) G603C possibly damaging Het
Vmn1r60 T C 7: 5,547,416 (GRCm39) H228R probably benign Het
Vmn2r7 T C 3: 64,623,658 (GRCm39) T221A probably benign Het
Zfp647 C A 15: 76,795,593 (GRCm39) V356L possibly damaging Het
Other mutations in Rps6kl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Rps6kl1 APN 12 85,186,203 (GRCm39) missense probably benign 0.43
IGL00493:Rps6kl1 APN 12 85,186,157 (GRCm39) missense probably benign 0.01
IGL01372:Rps6kl1 APN 12 85,193,663 (GRCm39) missense probably damaging 1.00
IGL02378:Rps6kl1 APN 12 85,185,448 (GRCm39) missense probably damaging 0.98
IGL02930:Rps6kl1 APN 12 85,196,548 (GRCm39) missense probably benign
BB008:Rps6kl1 UTSW 12 85,196,566 (GRCm39) missense possibly damaging 0.92
BB018:Rps6kl1 UTSW 12 85,196,566 (GRCm39) missense possibly damaging 0.92
R2059:Rps6kl1 UTSW 12 85,186,397 (GRCm39) missense probably benign 0.17
R4467:Rps6kl1 UTSW 12 85,194,582 (GRCm39) missense probably damaging 1.00
R4738:Rps6kl1 UTSW 12 85,187,161 (GRCm39) missense probably benign 0.40
R5120:Rps6kl1 UTSW 12 85,186,122 (GRCm39) missense probably damaging 1.00
R5593:Rps6kl1 UTSW 12 85,193,675 (GRCm39) missense possibly damaging 0.88
R5669:Rps6kl1 UTSW 12 85,194,641 (GRCm39) missense probably damaging 1.00
R7931:Rps6kl1 UTSW 12 85,196,566 (GRCm39) missense possibly damaging 0.92
R8681:Rps6kl1 UTSW 12 85,194,629 (GRCm39) missense probably damaging 1.00
R9081:Rps6kl1 UTSW 12 85,185,881 (GRCm39) missense probably damaging 0.96
R9406:Rps6kl1 UTSW 12 85,186,280 (GRCm39) missense probably benign
R9681:Rps6kl1 UTSW 12 85,183,599 (GRCm39) missense probably damaging 0.97
Z1176:Rps6kl1 UTSW 12 85,186,129 (GRCm39) missense probably benign 0.06
Z1177:Rps6kl1 UTSW 12 85,194,588 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGATGCAGCGCCTCTAATGC -3'
(R):5'- TAACTCTGGCTCGGTTCAGGAG -3'

Sequencing Primer
(F):5'- AGCGCCTCTAATGCCAGCAG -3'
(R):5'- TTCAGGAGAAGTCGCAAGCCC -3'
Posted On 2016-09-01