Incidental Mutation 'IGL01768:Cdkl3'
ID153991
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 #IGL01768
Quality Score
Status
Chromosome11
Chromosomal Location52004221-52089784 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52025917 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 291 (F291I)
Ref Sequence ENSEMBL: ENSMUSP00000123279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063303] [ENSMUST00000063321] [ENSMUST00000109076] [ENSMUST00000109077] [ENSMUST00000109078] [ENSMUST00000109079] [ENSMUST00000109080] [ENSMUST00000109081] [ENSMUST00000120374] [ENSMUST00000121591] [ENSMUST00000128853] [ENSMUST00000143228]
Predicted Effect probably damaging
Transcript: ENSMUST00000063303
AA Change: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: F291I

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: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: F291I

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: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389
AA Change: F291I

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109077
AA Change: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389
AA Change: F291I

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109078
AA Change: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389
AA Change: F291I

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: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: F291I

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: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: F291I

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: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: F291I

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: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: F291I

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: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: F291I

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000128853
SMART Domains Protein: ENSMUSP00000121945
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
Blast:S_TKc 1 110 2e-15 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000143228
AA Change: F291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: F291I

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000147874
SMART Domains Protein: ENSMUSP00000119505
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
Blast:S_TKc 2 36 5e-7 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik A T 6: 73,468,916 L217M possibly damaging Het
Aifm3 T C 16: 17,506,277 V567A possibly damaging Het
Arnt T C 3: 95,491,016 probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Capn5 C T 7: 98,125,273 R570H probably damaging Het
Ccdc173 A T 2: 69,782,127 probably benign Het
Cdh9 A T 15: 16,778,225 D42V possibly damaging Het
Cdk17 T C 10: 93,208,261 S21P probably damaging Het
Clmn T C 12: 104,781,719 E523G probably damaging Het
Cyp4f14 A T 17: 32,908,002 I318N probably damaging Het
Daam1 T A 12: 71,989,885 F1068L probably benign Het
Ext2 A G 2: 93,791,110 probably benign Het
F5 T A 1: 164,176,345 F236L probably benign Het
Fat2 A G 11: 55,262,568 V3606A probably damaging Het
Gpam G A 19: 55,087,520 T220M probably benign Het
Hyal1 C A 9: 107,579,139 L342I probably damaging Het
Ilvbl C A 10: 78,583,293 P459T possibly damaging Het
Itga5 A G 15: 103,351,570 Y632H probably benign Het
Krt73 T C 15: 101,798,856 D299G probably benign Het
Lcp1 T C 14: 75,224,133 V522A probably benign Het
Lmo3 A G 6: 138,416,497 C53R probably damaging Het
Nsun7 T C 5: 66,278,700 V305A probably benign Het
Olfr1391 G A 11: 49,328,131 C240Y probably damaging Het
Olfr1427 A T 19: 12,099,039 I200N probably damaging Het
Olfr859 G A 9: 19,809,160 V281M possibly damaging Het
Oprm1 T C 10: 6,829,186 S196P probably damaging Het
Ovgp1 T C 3: 105,981,351 probably null Het
Pcdhb20 T C 18: 37,506,715 F765L possibly damaging Het
Ppp4r4 T C 12: 103,581,405 V3A probably benign Het
Ruvbl1 A G 6: 88,497,271 I419V probably benign Het
Scara5 T A 14: 65,689,775 C40* probably null Het
Siglec1 T C 2: 131,074,394 Q1212R probably benign Het
Slc31a1 G A 4: 62,388,036 probably null Het
Sparc G T 11: 55,405,243 N87K probably damaging Het
Tcf12 T C 9: 71,868,996 probably null Het
Timm44 A T 8: 4,266,860 F258I probably benign Het
Tm2d2 G T 8: 25,018,079 V80L possibly damaging Het
Tpr A G 1: 150,444,448 D2249G possibly damaging Het
Trim50 G T 5: 135,363,882 G217V possibly damaging Het
Ugcg T C 4: 59,217,216 probably null Het
Vmn2r107 A T 17: 20,345,606 H61L probably benign Het
Zfp84 A G 7: 29,776,666 H261R probably benign Het
Zswim2 A T 2: 83,917,957 M293K probably benign 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
IGL01974:Cdkl3 APN 11 52011237 missense probably damaging 1.00
IGL01981:Cdkl3 APN 11 52005069 missense probably benign 0.43
IGL02510:Cdkl3 APN 11 52011270 missense probably damaging 1.00
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 On2014-02-04