Incidental Mutation 'IGL00519:Cdk18'
ID9570
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk18
Ensembl Gene ENSMUSG00000026437
Gene Namecyclin-dependent kinase 18
SynonymsPctk3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.443) question?
Stock #IGL00519
Quality Score
Status
Chromosome1
Chromosomal Location132112237-132139684 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 132115488 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 433 (R433L)
Ref Sequence ENSEMBL: ENSMUSP00000107981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027697] [ENSMUST00000112362] [ENSMUST00000185601]
Predicted Effect probably benign
Transcript: ENSMUST00000027697
AA Change: R433L

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027697
Gene: ENSMUSG00000026437
AA Change: R433L

DomainStartEndE-ValueType
S_TKc 121 402 1.13e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112362
AA Change: R433L

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107981
Gene: ENSMUSG00000026437
AA Change: R433L

DomainStartEndE-ValueType
S_TKc 121 402 1.13e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185601
SMART Domains Protein: ENSMUSP00000140034
Gene: ENSMUSG00000026437

DomainStartEndE-ValueType
Blast:S_TKc 1 34 6e-15 BLAST
PDB:3MTL|A 1 34 2e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189733
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 43,569,525 N309K probably damaging Het
Asap1 G A 15: 64,110,942 P846S probably damaging Het
Atg10 A G 13: 91,154,211 probably benign Het
Celsr1 A G 15: 86,030,836 Y979H probably damaging Het
Cracr2b T C 7: 141,465,757 probably benign Het
Csmd2 T C 4: 128,483,473 F2049L probably benign Het
Cubn T C 2: 13,282,919 N3450D probably benign Het
Dmrt1 T C 19: 25,603,274 L350P probably damaging Het
Dnah5 A T 15: 28,444,218 D4054V probably benign Het
Dpp8 A T 9: 65,078,008 T783S probably damaging Het
Enpp3 T C 10: 24,787,772 T564A probably benign Het
Exoc6b T C 6: 84,989,453 K180E probably benign Het
Faf1 T A 4: 109,840,381 F301L probably benign Het
Fbxo7 A T 10: 86,029,064 E77V probably damaging Het
Gabpa T G 16: 84,860,601 *455G probably null Het
Hexim2 A T 11: 103,134,079 M1L probably benign Het
Lrrc24 T A 15: 76,718,063 N164I probably damaging Het
Lrrc8b G A 5: 105,481,725 A646T possibly damaging Het
Mansc1 T A 6: 134,610,806 Q136L possibly damaging Het
Mlxip T A 5: 123,447,205 V592E probably benign Het
Ncor2 T C 5: 125,084,924 T429A unknown Het
Tbcd A G 11: 121,575,321 N591S probably damaging Het
Tenm4 T C 7: 96,805,138 probably benign Het
Uri1 A G 7: 37,961,553 S522P probably damaging Het
Ush2a C T 1: 188,444,668 S1343L probably benign Het
Other mutations in Cdk18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Cdk18 APN 1 132118519 critical splice donor site probably null
R0184:Cdk18 UTSW 1 132118538 missense probably benign 0.00
R0606:Cdk18 UTSW 1 132117617 unclassified probably benign
R0624:Cdk18 UTSW 1 132118872 missense probably damaging 1.00
R1295:Cdk18 UTSW 1 132119960 unclassified probably benign
R1296:Cdk18 UTSW 1 132119960 unclassified probably benign
R1298:Cdk18 UTSW 1 132122451 start gained probably benign
R1611:Cdk18 UTSW 1 132122375 missense probably damaging 1.00
R1959:Cdk18 UTSW 1 132117821 missense possibly damaging 0.95
R2184:Cdk18 UTSW 1 132115952 missense probably damaging 1.00
R2279:Cdk18 UTSW 1 132115952 missense probably damaging 1.00
R2391:Cdk18 UTSW 1 132115474 missense probably benign
R4601:Cdk18 UTSW 1 132116919 missense possibly damaging 0.95
R5001:Cdk18 UTSW 1 132118849 critical splice donor site probably null
R5208:Cdk18 UTSW 1 132117480 critical splice donor site probably null
R5818:Cdk18 UTSW 1 132119098 critical splice donor site probably null
R6282:Cdk18 UTSW 1 132120020 missense probably damaging 1.00
R6546:Cdk18 UTSW 1 132122350 missense probably damaging 0.99
R6644:Cdk18 UTSW 1 132122069 nonsense probably null
R6892:Cdk18 UTSW 1 132122110 missense probably benign 0.01
R6965:Cdk18 UTSW 1 132117581 missense probably damaging 0.98
R7698:Cdk18 UTSW 1 132122378 missense probably damaging 1.00
R7828:Cdk18 UTSW 1 132116904 missense possibly damaging 0.69
Posted On2012-12-06