Incidental Mutation 'R6847:Cdk1'
ID 534819
Institutional Source Beutler Lab
Gene Symbol Cdk1
Ensembl Gene ENSMUSG00000019942
Gene Name cyclin-dependent kinase 1
Synonyms p34, Cdc2, Cdc2a
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6847 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 69335146-69352938 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69338528 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 288 (D288E)
Ref Sequence ENSEMBL: ENSMUSP00000113184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020099] [ENSMUST00000119827] [ENSMUST00000152448]
AlphaFold P11440
Predicted Effect probably benign
Transcript: ENSMUST00000020099
AA Change: D288E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020099
Gene: ENSMUSG00000019942
AA Change: D288E

S_TKc 4 287 7.87e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119827
AA Change: D288E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113184
Gene: ENSMUSG00000019942
AA Change: D288E

S_TKc 4 287 7.87e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152448
SMART Domains Protein: ENSMUSP00000119085
Gene: ENSMUSG00000019942

Pfam:Pkinase 4 200 8.7e-65 PFAM
Pfam:Pkinase_Tyr 5 200 6.9e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (50/50)
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 the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null allele die prior to E1.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810046K07Rik G A 9: 51,290,204 T184M probably damaging Het
Adam26a A G 8: 43,568,428 I675T probably benign Het
Adgrb3 A T 1: 25,093,922 M1121K probably benign Het
Ak9 A G 10: 41,357,801 probably null Het
Akr1c6 T A 13: 4,438,498 C34* probably null Het
Akt3 G A 1: 177,031,659 P449S probably damaging Het
Atg2b A T 12: 105,635,788 V1643E probably damaging Het
Atp2c1 T C 9: 105,418,579 I819V probably damaging Het
Casp3 C T 8: 46,636,266 A183V probably benign Het
Cep131 G A 11: 120,065,691 R944W probably damaging Het
Cep290 A G 10: 100,563,419 K2268E probably damaging Het
Crybg2 A G 4: 134,065,546 E164G probably benign Het
Cubn A C 2: 13,444,253 probably null Het
Dnajc14 A T 10: 128,816,787 E571D possibly damaging Het
Dnase1l1 C T X: 74,277,038 probably null Het
Eef1b2 A G 1: 63,178,489 E44G probably benign Het
Eml6 C T 11: 29,818,447 V747I probably benign Het
Ext1 T G 15: 53,345,154 Q70H probably benign Het
Gbp2b T A 3: 142,598,179 C12S probably damaging Het
Gbp8 A C 5: 105,031,227 D135E probably benign Het
Gm12886 A T 4: 121,416,719 L100* probably null Het
Gpatch1 A T 7: 35,293,558 probably null Het
Ifit3b A T 19: 34,611,525 M34L probably benign Het
Il12a G T 3: 68,695,566 D160Y probably damaging Het
Klhl2 A G 8: 64,759,782 L241P probably damaging Het
Krt80 T C 15: 101,358,729 E195G probably benign Het
Lgi1 T C 19: 38,301,290 V268A probably damaging Het
Lrrfip1 A T 1: 91,105,128 D216V probably damaging Het
Meis3 A G 7: 16,183,864 N314S probably damaging Het
Muc5ac C T 7: 141,809,744 probably benign Het
Myh15 A T 16: 49,145,088 I1119F possibly damaging Het
Nav2 A T 7: 49,491,456 Q916H probably benign Het
Ncam2 A T 16: 81,432,718 Q22L probably damaging Het
Olfr1474 A T 19: 13,471,038 I23F probably benign Het
P2rx4 G A 5: 122,727,751 V329M probably damaging Het
Peg10 A G 6: 4,754,279 probably benign Het
Pgp T C 17: 24,471,401 L267P probably damaging Het
Prdm2 A C 4: 143,132,950 S1257A probably benign Het
Prr12 T C 7: 45,045,740 N1434S unknown Het
Psmc3ip A T 11: 101,095,173 H40Q probably damaging Het
Ptprc A T 1: 138,088,545 N526K probably damaging Het
Sec63 T A 10: 42,791,253 D138E probably damaging Het
Serpinb13 A G 1: 106,998,933 N220D probably benign Het
Siva1 G A 12: 112,644,910 probably benign Het
Slc39a12 A G 2: 14,449,917 H546R probably damaging Het
Slc7a1 G A 5: 148,334,658 A497V probably benign Het
Smg5 G T 3: 88,342,552 K95N probably damaging Het
Speer1 G A 5: 11,344,167 V78M probably damaging Het
Traj50 T A 14: 54,167,644 probably benign Het
Ubr3 T C 2: 69,983,128 V1261A probably damaging Het
Zc3h11a A T 1: 133,638,962 probably null Het
Other mutations in Cdk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02343:Cdk1 APN 10 69340501 missense probably benign
IGL02875:Cdk1 APN 10 69342536 splice site probably benign
IGL03295:Cdk1 APN 10 69342543 missense possibly damaging 0.88
R0064:Cdk1 UTSW 10 69345077 missense probably benign 0.34
R0064:Cdk1 UTSW 10 69345077 missense probably benign 0.34
R0413:Cdk1 UTSW 10 69345099 missense probably benign 0.00
R1635:Cdk1 UTSW 10 69338547 missense probably damaging 1.00
R4173:Cdk1 UTSW 10 69345161 missense probably benign 0.19
R5154:Cdk1 UTSW 10 69340468 unclassified probably benign
R8222:Cdk1 UTSW 10 69340596 missense probably benign 0.00
R8755:Cdk1 UTSW 10 69340605 missense probably benign 0.02
R9681:Cdk1 UTSW 10 69342619 missense possibly damaging 0.89
RF023:Cdk1 UTSW 10 69340498 missense possibly damaging 0.69
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-09-12