Incidental Mutation 'R0027:Cdkl3'
ID 15071
Institutional Source Beutler Lab
Gene Symbol Cdkl3
Ensembl Gene ENSMUSG00000020389
Gene Name cyclin dependent kinase like 3
Synonyms B230379H01Rik
MMRRC Submission 038322-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.863) question?
Stock # R0027 (G1) of strain 730
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 51895048-51980611 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 51923176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000063303] [ENSMUST00000063321] [ENSMUST00000109076] [ENSMUST00000109077] [ENSMUST00000109078] [ENSMUST00000109079] [ENSMUST00000120374] [ENSMUST00000143228] [ENSMUST00000121591] [ENSMUST00000109080] [ENSMUST00000128853] [ENSMUST00000109081] [ENSMUST00000150736]
AlphaFold Q8BLF2
Predicted Effect probably benign
Transcript: ENSMUST00000063303
SMART Domains Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000063321
SMART Domains Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 9e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109076
SMART Domains Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109077
SMART Domains Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109078
SMART Domains Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 457 8e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109079
SMART Domains Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 9e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000120374
SMART Domains Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000143228
SMART Domains Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000121591
SMART Domains Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109080
SMART Domains Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389

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 probably benign
Transcript: ENSMUST00000128853
SMART Domains Protein: ENSMUSP00000121945
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
Blast:S_TKc 1 110 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109081
SMART Domains Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000207272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Predicted Effect probably benign
Transcript: ENSMUST00000154701
Predicted Effect probably benign
Transcript: ENSMUST00000136021
Predicted Effect probably benign
Transcript: ENSMUST00000150736
Coding Region Coverage
  • 1x: 77.1%
  • 3x: 64.8%
  • 10x: 37.0%
  • 20x: 19.3%
Validation Efficiency 92% (60/65)
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,285,959 (GRCm39) I723F probably damaging Het
Anapc1 G T 2: 128,483,431 (GRCm39) D1221E possibly damaging Het
Arhgef28 T A 13: 98,082,204 (GRCm39) E1201V possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Fam131b T A 6: 42,295,182 (GRCm39) M304L probably benign Het
Ints15 G A 5: 143,293,817 (GRCm39) T220I probably damaging Het
Kif11 C T 19: 37,395,431 (GRCm39) probably benign Het
Lrpprc G A 17: 85,074,435 (GRCm39) R491* probably null Het
Mbtd1 T C 11: 93,815,375 (GRCm39) V321A possibly damaging Het
Mon2 G A 10: 122,871,953 (GRCm39) S357L possibly damaging Het
Nopchap1 G A 10: 83,200,393 (GRCm39) probably benign Het
Papola A C 12: 105,799,395 (GRCm39) S675R probably benign Het
Pcdh9 T A 14: 94,126,081 (GRCm39) I30F probably null Het
Prl6a1 T A 13: 27,502,011 (GRCm39) L126Q probably damaging Het
Rad9b A G 5: 122,489,786 (GRCm39) probably benign Het
Snrnp40 T A 4: 130,262,066 (GRCm39) H151Q probably damaging Het
Stard9 A T 2: 120,533,982 (GRCm39) Q3413L probably benign Het
Ubr4 C A 4: 139,127,704 (GRCm39) N567K probably damaging Het
Other mutations in Cdkl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Cdkl3 APN 11 51,920,683 (GRCm39) missense probably benign 0.28
IGL01632:Cdkl3 APN 11 51,895,899 (GRCm39) missense probably damaging 1.00
IGL01768:Cdkl3 APN 11 51,916,744 (GRCm39) missense probably damaging 1.00
IGL01974:Cdkl3 APN 11 51,902,064 (GRCm39) missense probably damaging 1.00
IGL01981:Cdkl3 APN 11 51,895,896 (GRCm39) missense probably benign 0.43
IGL02510:Cdkl3 APN 11 51,902,097 (GRCm39) missense probably damaging 1.00
R0027:Cdkl3 UTSW 11 51,923,176 (GRCm39) unclassified probably benign
R0480:Cdkl3 UTSW 11 51,895,882 (GRCm39) missense probably damaging 1.00
R0499:Cdkl3 UTSW 11 51,923,243 (GRCm39) missense possibly damaging 0.52
R0627:Cdkl3 UTSW 11 51,902,135 (GRCm39) missense probably damaging 1.00
R0848:Cdkl3 UTSW 11 51,902,094 (GRCm39) missense probably damaging 1.00
R1510:Cdkl3 UTSW 11 51,924,341 (GRCm39) missense possibly damaging 0.90
R1558:Cdkl3 UTSW 11 51,923,337 (GRCm39) missense possibly damaging 0.62
R2046:Cdkl3 UTSW 11 51,917,677 (GRCm39) missense probably benign
R2077:Cdkl3 UTSW 11 51,917,666 (GRCm39) missense probably damaging 0.98
R2207:Cdkl3 UTSW 11 51,918,020 (GRCm39) makesense probably null
R2271:Cdkl3 UTSW 11 51,923,322 (GRCm39) missense probably benign 0.07
R2272:Cdkl3 UTSW 11 51,923,322 (GRCm39) missense probably benign 0.07
R4032:Cdkl3 UTSW 11 51,902,118 (GRCm39) missense probably damaging 1.00
R4839:Cdkl3 UTSW 11 51,895,861 (GRCm39) missense probably damaging 1.00
R4971:Cdkl3 UTSW 11 51,901,995 (GRCm39) missense possibly damaging 0.48
R6541:Cdkl3 UTSW 11 51,913,571 (GRCm39) missense probably damaging 1.00
R6559:Cdkl3 UTSW 11 51,916,696 (GRCm39) missense probably benign 0.04
R7034:Cdkl3 UTSW 11 51,918,042 (GRCm39) missense probably benign 0.00
R7068:Cdkl3 UTSW 11 51,902,154 (GRCm39) critical splice donor site probably null
R7406:Cdkl3 UTSW 11 51,924,369 (GRCm39) missense probably benign 0.11
R7658:Cdkl3 UTSW 11 51,918,009 (GRCm39) missense not run
R7870:Cdkl3 UTSW 11 51,909,284 (GRCm39) critical splice donor site probably null
R8324:Cdkl3 UTSW 11 51,913,706 (GRCm39) critical splice donor site probably null
R8331:Cdkl3 UTSW 11 51,917,704 (GRCm39) missense probably benign 0.04
R8349:Cdkl3 UTSW 11 51,975,260 (GRCm39) missense
R8449:Cdkl3 UTSW 11 51,975,260 (GRCm39) missense
R8806:Cdkl3 UTSW 11 51,923,295 (GRCm39) missense possibly damaging 0.66
R9262:Cdkl3 UTSW 11 51,916,702 (GRCm39) missense probably benign 0.21
R9360:Cdkl3 UTSW 11 51,924,349 (GRCm39) missense probably null 0.00
R9385:Cdkl3 UTSW 11 51,926,779 (GRCm39) missense probably benign 0.01
R9623:Cdkl3 UTSW 11 51,895,816 (GRCm39) missense probably damaging 1.00
R9729:Cdkl3 UTSW 11 51,895,770 (GRCm39) missense probably benign 0.44
Posted On 2012-12-12