Incidental Mutation 'R2207:Cdkl3'
ID 239154
Institutional Source Beutler Lab
Gene Symbol Cdkl3
Ensembl Gene ENSMUSG00000020389
Gene Name cyclin dependent kinase like 3
Synonyms B230379H01Rik
MMRRC Submission 040209-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.863) question?
Stock # R2207 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 51895048-51980611 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 51918020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 354 (*354W)
Ref Sequence ENSEMBL: ENSMUSP00000104705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063303] [ENSMUST00000063321] [ENSMUST00000109076] [ENSMUST00000109077] [ENSMUST00000109078] [ENSMUST00000109079] [ENSMUST00000120374] [ENSMUST00000143228] [ENSMUST00000109081] [ENSMUST00000128853] [ENSMUST00000109080] [ENSMUST00000121591]
AlphaFold Q8BLF2
Predicted Effect probably benign
Transcript: ENSMUST00000063303
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: T408A

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000063321
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: T408A

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 9e-19 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000109076
AA Change: *354W
SMART Domains Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389
AA Change: *354W

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109077
AA Change: *354W
SMART Domains Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389
AA Change: *354W

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109078
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389
AA Change: T408A

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 457 8e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109079
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: T408A

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 9e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000120374
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: T408A

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000143228
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: T408A

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109081
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: T408A

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000128853
AA Change: T41A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121945
Gene: ENSMUSG00000020389
AA Change: T41A

DomainStartEndE-ValueType
Blast:S_TKc 1 110 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109080
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: T408A

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000121591
AA Change: T408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: T408A

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Predicted Effect probably benign
Transcript: ENSMUST00000147874
SMART Domains Protein: ENSMUSP00000119505
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
Blast:S_TKc 2 36 5e-7 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik A G 17: 37,288,965 (GRCm39) probably benign Het
Abcb1b C T 5: 8,874,803 (GRCm39) R488C probably benign Het
Adam34 T C 8: 44,105,274 (GRCm39) I124V probably benign Het
Aicda T A 6: 122,538,244 (GRCm39) V134D possibly damaging Het
Akt2 T A 7: 27,336,625 (GRCm39) probably null Het
Aldh1a3 T C 7: 66,055,769 (GRCm39) R341G probably damaging Het
Ankrd12 G T 17: 66,338,569 (GRCm39) probably null Het
Anxa11 A G 14: 25,874,721 (GRCm39) Y244C probably damaging Het
Atp2c2 G A 8: 120,475,048 (GRCm39) R551Q probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bcl11a G T 11: 24,113,343 (GRCm39) G229W probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
Cacna1h A T 17: 25,603,987 (GRCm39) S1282T probably benign Het
Calcr T C 6: 3,717,133 (GRCm39) Y109C probably damaging Het
Ccdc39 T C 3: 33,890,882 (GRCm39) I241V probably damaging Het
Ccdc9 A G 7: 16,018,194 (GRCm39) probably benign Het
Cdk17 G A 10: 93,064,624 (GRCm39) D298N probably damaging Het
Celf6 A T 9: 59,511,610 (GRCm39) Y401F possibly damaging Het
Clec4a4 C T 6: 122,990,766 (GRCm39) L169F probably damaging Het
Col14a1 T C 15: 55,327,082 (GRCm39) F1411L unknown Het
Col4a2 G T 8: 11,493,352 (GRCm39) G1354W probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cst13 A T 2: 148,665,202 (GRCm39) R66W probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Dhx8 A G 11: 101,641,797 (GRCm39) T632A probably benign Het
Disp1 A G 1: 182,869,906 (GRCm39) F838S possibly damaging Het
Dlg1 A G 16: 31,672,664 (GRCm39) H599R probably benign Het
Dnah12 T A 14: 26,503,744 (GRCm39) V1654E probably damaging Het
Dnah5 C T 15: 28,343,817 (GRCm39) L2406F probably benign Het
Fam98b C G 2: 117,098,300 (GRCm39) R257G probably damaging Het
Fbn2 A T 18: 58,214,471 (GRCm39) C900* probably null Het
Fgf1 A G 18: 38,980,138 (GRCm39) Y79H possibly damaging Het
Foxn1 C A 11: 78,249,630 (GRCm39) A632S probably benign Het
Fsip2 T G 2: 82,807,823 (GRCm39) S1381A probably benign Het
Gtf2b G A 3: 142,484,081 (GRCm39) G85D probably benign Het
Gyg1 C A 3: 20,204,703 (GRCm39) G161C probably damaging Het
Hemgn G T 4: 46,396,301 (GRCm39) L312I possibly damaging Het
Hic2 T C 16: 17,075,324 (GRCm39) M51T possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hpx C T 7: 105,241,633 (GRCm39) R287H probably damaging Het
Igf2bp3 C T 6: 49,065,488 (GRCm39) G468E possibly damaging Het
Il5ra C A 6: 106,689,402 (GRCm39) E397* probably null Het
Itfg1 A T 8: 86,502,827 (GRCm39) S246R probably benign Het
Kdm2a A T 19: 4,412,898 (GRCm39) D29E probably damaging Het
Lamc2 T G 1: 153,009,452 (GRCm39) E784D possibly damaging Het
Lrp2 A T 2: 69,297,372 (GRCm39) N3196K possibly damaging Het
Lyzl1 T A 18: 4,181,962 (GRCm39) C96* probably null Het
Maf1 A G 15: 76,236,718 (GRCm39) T17A probably benign Het
Map1b T C 13: 99,567,591 (GRCm39) D1710G unknown Het
Megf8 C T 7: 25,049,222 (GRCm39) T1773I probably damaging Het
Mei1 T C 15: 81,987,450 (GRCm39) M414T probably benign Het
Myo15a A G 11: 60,396,860 (GRCm39) N2643S probably benign Het
Ndufa9 A G 6: 126,821,772 (GRCm39) Y64H probably damaging Het
Neb A T 2: 52,101,579 (GRCm39) L4354* probably null Het
Nom1 T A 5: 29,644,972 (GRCm39) I480N probably damaging Het
Nrxn3 C T 12: 89,315,082 (GRCm39) T331M probably damaging Het
Or1a1 G T 11: 74,087,150 (GRCm39) V274L possibly damaging Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or4f14b A C 2: 111,775,270 (GRCm39) F177C probably damaging Het
Or51a42 A G 7: 103,708,612 (GRCm39) S66P probably damaging Het
Pcdhb15 A T 18: 37,608,075 (GRCm39) T436S probably benign Het
Pcdhb18 T A 18: 37,624,342 (GRCm39) N557K probably damaging Het
Pcdhb6 T C 18: 37,468,633 (GRCm39) M518T probably benign Het
Pgm2l1 T A 7: 99,917,319 (GRCm39) probably null Het
Pih1d2 C A 9: 50,532,379 (GRCm39) H162N probably benign Het
Pitrm1 T A 13: 6,619,327 (GRCm39) Y721N probably damaging Het
Pla2r1 C A 2: 60,288,779 (GRCm39) V618F probably damaging Het
Plb1 T C 5: 32,473,984 (GRCm39) S599P possibly damaging Het
Prkg1 T C 19: 30,556,260 (GRCm39) D562G probably damaging Het
Proser1 T G 3: 53,385,812 (GRCm39) S565A probably benign Het
Prx T A 7: 27,216,213 (GRCm39) V238E probably damaging Het
Psapl1 T C 5: 36,362,509 (GRCm39) I367T probably damaging Het
Rc3h1 T C 1: 160,767,595 (GRCm39) V128A probably damaging Het
Rrm1 T A 7: 102,091,233 (GRCm39) M1K probably null Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsl1 A G 13: 67,330,892 (GRCm39) T447A probably benign Het
Ryr2 A G 13: 11,825,823 (GRCm39) S552P probably damaging Het
Sbf1 A G 15: 89,190,896 (GRCm39) S225P possibly damaging Het
Serpina3c T A 12: 104,117,757 (GRCm39) I194F probably benign Het
Setd3 C T 12: 108,073,544 (GRCm39) V578M probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc6a1 T A 6: 114,285,632 (GRCm39) V356E probably damaging Het
Slfn1 A G 11: 83,011,992 (GRCm39) E36G possibly damaging Het
Sorcs1 T C 19: 50,218,655 (GRCm39) H609R possibly damaging Het
Spag16 A G 1: 70,764,043 (GRCm39) H621R probably benign Het
Spata31d1e A G 13: 59,890,920 (GRCm39) V300A probably benign Het
Tg G A 15: 66,553,788 (GRCm39) G401D probably benign Het
Tnxb A C 17: 34,928,391 (GRCm39) T2602P possibly damaging Het
Trip11 T C 12: 101,839,701 (GRCm39) N1643S probably benign Het
Ttn G A 2: 76,709,687 (GRCm39) R1581* probably null Het
Ttn A T 2: 76,796,155 (GRCm39) I590K probably benign Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Wdr7 T A 18: 63,910,678 (GRCm39) V690E possibly damaging Het
Xaf1 A T 11: 72,194,228 (GRCm39) E36D possibly damaging Het
Zfp131 A T 13: 120,237,348 (GRCm39) F303I probably damaging Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging Het
Zfp788 A T 7: 41,299,064 (GRCm39) I567F probably damaging Het
Zfyve26 A G 12: 79,292,861 (GRCm39) V2096A 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
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
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
Predicted Primers PCR Primer
(F):5'- GGACGCTAATGACAGCAGATTC -3'
(R):5'- TGCAATGCACCAGACAGGAG -3'

Sequencing Primer
(F):5'- GCTAATGACAGCAGATTCTCTACATC -3'
(R):5'- ACAGGAGGACAGTTGACTTAATC -3'
Posted On 2014-10-02