Incidental Mutation 'IGL01372:Rps6kl1'
ID76183
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 #IGL01372
Quality Score
Status
Chromosome12
Chromosomal Location85135249-85151264 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85146889 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 143 (C143S)
Ref Sequence ENSEMBL: ENSMUSP00000019379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019379] [ENSMUST00000221972]
Predicted Effect probably damaging
Transcript: ENSMUST00000019379
AA Change: C143S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: C143S

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 possibly damaging
Transcript: ENSMUST00000221972
AA Change: C153S

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223399
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A G 3: 91,088,309 probably benign Het
Abca7 G A 10: 80,006,255 D1049N probably benign Het
Ankdd1a A T 9: 65,504,139 L362Q probably damaging Het
Ankib1 A T 5: 3,772,594 N37K probably damaging Het
Ankrd55 T A 13: 112,323,143 D90E probably damaging Het
Atp1a2 T C 1: 172,278,943 R831G probably damaging Het
Bcar3 A G 3: 122,523,294 D638G probably damaging Het
Cabp4 T A 19: 4,139,323 E78D probably benign Het
Cmtm8 A G 9: 114,790,687 V130A possibly damaging Het
Cyth3 A G 5: 143,692,638 T66A possibly damaging Het
Dmbt1 A T 7: 131,103,679 I1171F possibly damaging Het
Dnah10 G A 5: 124,779,154 G2060D probably damaging Het
Dnah11 T C 12: 118,192,399 H172R probably damaging Het
Dnah5 C T 15: 28,230,490 A178V probably benign Het
Efcab6 T G 15: 84,044,304 M30L possibly damaging Het
Ehbp1l1 T C 19: 5,715,789 probably benign Het
Eps15 G A 4: 109,322,106 E230K probably damaging Het
Fam91a1 A G 15: 58,430,062 I258M probably damaging Het
Gm5581 G A 6: 131,168,403 noncoding transcript Het
Hrh1 G A 6: 114,479,997 V80I probably damaging Het
Ldhd G A 8: 111,628,400 H290Y probably benign Het
Lepr G A 4: 101,735,577 E130K possibly damaging Het
Mycbpap T C 11: 94,506,456 I40V possibly damaging Het
Nrap T A 19: 56,329,102 probably null Het
Olfr206 A G 16: 59,345,161 I180T probably damaging Het
Olfr342 T A 2: 36,527,451 I13N probably benign Het
Opn5 T A 17: 42,580,544 probably null Het
Otop3 A T 11: 115,345,104 T521S possibly damaging Het
Pcsk5 T G 19: 17,617,744 T409P probably damaging Het
Pde9a T A 17: 31,461,711 F322Y probably benign Het
Pgm5 T A 19: 24,733,621 I406F probably damaging Het
Prrc2b T C 2: 32,223,930 S1998P probably damaging Het
Prune2 T C 19: 17,125,069 Y2531H probably damaging Het
Ptprk T C 10: 28,569,927 V932A probably benign Het
Rapgef6 T A 11: 54,668,611 probably benign Het
Rgsl1 T A 1: 153,826,141 Y224F probably damaging Het
Slc5a5 G A 8: 70,890,376 probably benign Het
Tfb2m A G 1: 179,542,313 S182P probably damaging Het
Tmc3 A G 7: 83,612,538 H608R probably damaging Het
Trim37 T A 11: 87,184,946 H459Q probably benign Het
Vmn2r71 A T 7: 85,620,814 probably benign Het
Xirp2 T C 2: 67,513,990 S2192P possibly damaging 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
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 not run
Z1177:Rps6kl1 UTSW 12 85147814 missense not run
Posted On2013-10-07