Incidental Mutation 'IGL02378:Rps6kl1'
ID 291214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6kl1
Ensembl Gene ENSMUSG00000019235
Gene Name ribosomal protein S6 kinase-like 1
Synonyms A830084F09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02378
Quality Score
Status
Chromosome 12
Chromosomal Location 85182023-85198038 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85185448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 417 (D417Y)
Ref Sequence ENSEMBL: ENSMUSP00000019379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019379] [ENSMUST00000053811] [ENSMUST00000221357] [ENSMUST00000221972]
AlphaFold Q8R2S1
Predicted Effect probably damaging
Transcript: ENSMUST00000019379
AA Change: D417Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: D417Y

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: ENSMUST00000053811
SMART Domains Protein: ENSMUSP00000060346
Gene: ENSMUSG00000004789

DomainStartEndE-ValueType
Pfam:Biotin_lipoyl 72 144 1.7e-22 PFAM
low complexity region 149 180 N/A INTRINSIC
low complexity region 186 201 N/A INTRINSIC
low complexity region 205 217 N/A INTRINSIC
Pfam:2-oxoacid_dh 221 452 2.3e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221357
Predicted Effect possibly damaging
Transcript: ENSMUST00000221972
AA Change: D442Y

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223413
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,080,424 (GRCm39) T414I probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acer2 A T 4: 86,804,491 (GRCm39) T69S probably benign Het
Adcy2 A G 13: 68,878,411 (GRCm39) V409A probably damaging Het
Anks3 T A 16: 4,768,626 (GRCm39) Y239F possibly damaging Het
Arhgap42 G A 9: 9,035,584 (GRCm39) H253Y possibly damaging Het
Asb18 A T 1: 89,920,710 (GRCm39) L189Q probably damaging Het
C3 T C 17: 57,519,698 (GRCm39) R1185G probably benign Het
Cdca7l T A 12: 117,835,862 (GRCm39) V66E possibly damaging Het
Cdrt4 G T 11: 62,883,534 (GRCm39) E79* probably null Het
Cep57 A C 9: 13,732,842 (GRCm39) Y34* probably null Het
Cep63 A T 9: 102,473,314 (GRCm39) probably benign Het
Clip4 T A 17: 72,144,721 (GRCm39) I516K possibly damaging Het
Dnah10 A G 5: 124,850,131 (GRCm39) E1551G probably damaging Het
Dysf T C 6: 84,088,887 (GRCm39) I843T probably damaging Het
Gabra1 C A 11: 42,031,082 (GRCm39) V283F probably damaging Het
Hcfc2 T C 10: 82,544,905 (GRCm39) I179T possibly damaging Het
Htr2c G A X: 145,976,755 (GRCm39) probably benign Het
Irgc G A 7: 24,131,500 (GRCm39) T439I probably benign Het
Itgae T A 11: 73,008,947 (GRCm39) L476H probably benign Het
Jarid2 A C 13: 45,067,801 (GRCm39) K1070T probably damaging Het
Lama2 A G 10: 26,919,652 (GRCm39) I2193T probably damaging Het
Med19 A G 2: 84,515,625 (GRCm39) E103G probably damaging Het
Nav1 C T 1: 135,397,716 (GRCm39) D818N probably benign Het
Nom1 G T 5: 29,656,124 (GRCm39) E830* probably null Het
Or10g9b T G 9: 39,917,769 (GRCm39) T159P probably damaging Het
Or5b98 A C 19: 12,931,747 (GRCm39) S265R probably benign Het
Orai3 G T 7: 127,369,333 (GRCm39) R58L probably damaging Het
Osbpl8 T A 10: 111,118,006 (GRCm39) M583K possibly damaging Het
Pik3cb A T 9: 98,944,893 (GRCm39) M624K probably benign Het
Rars2 G A 4: 34,656,199 (GRCm39) R451H possibly damaging Het
Rgs22 A G 15: 36,103,951 (GRCm39) L170P probably benign Het
Senp6 A G 9: 80,033,674 (GRCm39) D106G probably damaging Het
Setx C T 2: 29,063,738 (GRCm39) probably benign Het
Sfswap T A 5: 129,616,668 (GRCm39) Y371N probably damaging Het
Slc24a3 C T 2: 145,360,322 (GRCm39) R141C possibly damaging Het
Sorcs1 C T 19: 50,171,109 (GRCm39) W926* probably null Het
Steap4 A G 5: 8,026,741 (GRCm39) T235A probably benign Het
Tead2 T A 7: 44,867,571 (GRCm39) probably null Het
Tll1 A T 8: 64,470,660 (GRCm39) L921* probably null Het
Tnfrsf19 T A 14: 61,208,451 (GRCm39) T357S probably benign Het
Tnik C A 3: 28,692,608 (GRCm39) S825* probably null Het
Vil1 T A 1: 74,469,850 (GRCm39) probably null Het
Vmn2r106 T C 17: 20,497,791 (GRCm39) K483E probably damaging Het
Vwa5a G A 9: 38,645,266 (GRCm39) M450I probably benign Het
Xirp2 C T 2: 67,344,112 (GRCm39) P2118S probably benign 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
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
R5415:Rps6kl1 UTSW 12 85,186,155 (GRCm39) missense probably benign 0.00
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
Posted On 2015-04-16