Incidental Mutation 'IGL02510:Cdkl3'
ID296495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdkl3
Ensembl Gene ENSMUSG00000020389
Gene Namecyclin-dependent kinase-like 3
SynonymsB230379H01Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.597) question?
Stock #IGL02510
Quality Score
Status
Chromosome11
Chromosomal Location52004221-52089784 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52011270 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 102 (L102P)
Ref Sequence ENSEMBL: ENSMUSP00000123279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063303] [ENSMUST00000063321] [ENSMUST00000109076] [ENSMUST00000109077] [ENSMUST00000109078] [ENSMUST00000109079] [ENSMUST00000109080] [ENSMUST00000109081] [ENSMUST00000120374] [ENSMUST00000121591] [ENSMUST00000135076] [ENSMUST00000143228]
Predicted Effect probably damaging
Transcript: ENSMUST00000063303
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000063321
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 9e-19 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000109076
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109077
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109078
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 457 8e-14 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000109079
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 9e-19 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000109080
AA Change: L102P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000109081
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000120374
AA Change: L102P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000121591
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000135076
AA Change: L102P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117983
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
Pfam:Pkinase 4 192 5.6e-65 PFAM
Pfam:Pkinase_Tyr 4 192 7.3e-37 PFAM
Pfam:Kinase-like 49 192 3.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143228
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: L102P

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,251,390 S193N probably benign Het
Arrdc1 C A 2: 24,935,100 V16F probably damaging Het
Bsx A T 9: 40,874,221 Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 T253A probably benign Het
Cgnl1 G T 9: 71,725,357 N237K probably benign Het
Cldn14 T A 16: 93,919,956 M1L probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Col7a1 C A 9: 108,973,231 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhrs2 G A 14: 55,236,075 V64M probably damaging Het
Disp3 G A 4: 148,252,701 H886Y probably benign Het
Dst G A 1: 34,229,251 probably null Het
Fnbp4 T C 2: 90,751,475 V215A probably benign Het
Fzd9 A G 5: 135,249,615 L472P probably damaging Het
Gm5096 A G 18: 87,757,529 Q392R probably benign Het
Hpd C T 5: 123,181,910 R15Q possibly damaging Het
Htra2 A G 6: 83,051,611 V412A probably damaging Het
Ift80 A G 3: 68,898,543 F722S probably benign Het
Kcnq2 T C 2: 181,081,361 T741A probably benign Het
Kl A C 5: 150,989,001 E738D probably damaging Het
Klra4 T A 6: 130,059,543 I178L probably damaging Het
Klra9 T C 6: 130,191,222 E27G probably benign Het
Kntc1 T C 5: 123,819,062 Y2145H probably benign Het
Mbd5 T A 2: 49,257,029 M417K probably benign Het
Med31 C T 11: 72,212,056 M75I probably benign Het
Mpeg1 A T 19: 12,461,424 D82V probably damaging Het
Msto1 A G 3: 88,910,345 Y439H probably damaging Het
Olfr23 G A 11: 73,941,005 G253E probably damaging Het
Olfr332 T C 11: 58,490,539 Y72C probably damaging Het
Olfr344 T C 2: 36,568,681 S28P possibly damaging Het
Olfr488 T A 7: 108,256,141 probably benign Het
Prtg G A 9: 72,890,869 V706M probably damaging Het
Sfxn2 G T 19: 46,588,272 A186S probably benign Het
Slc12a5 A T 2: 164,982,808 probably benign Het
Slc7a3 T C X: 101,082,833 E222G probably benign Het
Stox1 A T 10: 62,664,047 H911Q probably benign Het
Sult3a2 A T 10: 33,766,439 N289K probably benign Het
Supt20 A G 3: 54,715,524 probably benign Het
Tchh A G 3: 93,444,078 E275G unknown Het
Tectb A T 19: 55,191,511 N263I probably damaging Het
Tsga10 C T 1: 37,760,985 R608Q possibly damaging Het
Ttyh3 A G 5: 140,629,464 Y390H probably damaging Het
Utf1 C A 7: 139,944,016 S48* probably null Het
Zfp358 G A 8: 3,496,786 G456D probably benign Het
Zufsp A G 10: 33,930,154 probably null Het
Other mutations in Cdkl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Cdkl3 APN 11 52029856 missense probably benign 0.28
IGL01632:Cdkl3 APN 11 52005072 missense probably damaging 1.00
IGL01768:Cdkl3 APN 11 52025917 missense probably damaging 1.00
IGL01974:Cdkl3 APN 11 52011237 missense probably damaging 1.00
IGL01981:Cdkl3 APN 11 52005069 missense probably benign 0.43
R0027:Cdkl3 UTSW 11 52032349 unclassified probably benign
R0027:Cdkl3 UTSW 11 52032349 unclassified probably benign
R0480:Cdkl3 UTSW 11 52005055 missense probably damaging 1.00
R0499:Cdkl3 UTSW 11 52032416 missense possibly damaging 0.52
R0627:Cdkl3 UTSW 11 52011308 missense probably damaging 1.00
R0848:Cdkl3 UTSW 11 52011267 missense probably damaging 1.00
R1510:Cdkl3 UTSW 11 52033514 missense possibly damaging 0.90
R1558:Cdkl3 UTSW 11 52032510 missense possibly damaging 0.62
R2046:Cdkl3 UTSW 11 52026850 missense probably benign
R2077:Cdkl3 UTSW 11 52026839 missense probably damaging 0.98
R2207:Cdkl3 UTSW 11 52027193 makesense probably null
R2271:Cdkl3 UTSW 11 52032495 missense probably benign 0.07
R2272:Cdkl3 UTSW 11 52032495 missense probably benign 0.07
R4032:Cdkl3 UTSW 11 52011291 missense probably damaging 1.00
R4839:Cdkl3 UTSW 11 52005034 missense probably damaging 1.00
R4971:Cdkl3 UTSW 11 52011168 missense possibly damaging 0.48
R6541:Cdkl3 UTSW 11 52022744 missense probably damaging 1.00
R6559:Cdkl3 UTSW 11 52025869 missense probably benign 0.04
R7034:Cdkl3 UTSW 11 52027215 missense probably benign 0.00
R7068:Cdkl3 UTSW 11 52011327 critical splice donor site probably null
Posted On2015-04-16