Incidental Mutation 'R6847:Cdk1'
ID 534819
Institutional Source Beutler Lab
Gene Symbol Cdk1
Ensembl Gene ENSMUSG00000019942
Gene Name cyclin dependent kinase 1
Synonyms Cdc2, Cdc2a, p34
MMRRC Submission 045021-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6847 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 69170976-69188742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69174358 bp (GRCm39)
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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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
Adam26a A G 8: 44,021,465 (GRCm39) I675T probably benign Het
Adgrb3 A T 1: 25,133,003 (GRCm39) M1121K probably benign Het
Ak9 A G 10: 41,233,797 (GRCm39) probably null Het
Akr1c6 T A 13: 4,488,497 (GRCm39) C34* probably null Het
Akt3 G A 1: 176,859,225 (GRCm39) P449S probably damaging Het
Atg2b A T 12: 105,602,047 (GRCm39) V1643E probably damaging Het
Atp2c1 T C 9: 105,295,778 (GRCm39) I819V probably damaging Het
Casp3 C T 8: 47,089,301 (GRCm39) A183V probably benign Het
Cep131 G A 11: 119,956,517 (GRCm39) R944W probably damaging Het
Cep290 A G 10: 100,399,281 (GRCm39) K2268E probably damaging Het
Crybg2 A G 4: 133,792,857 (GRCm39) E164G probably benign Het
Cubn A C 2: 13,449,064 (GRCm39) probably null Het
Dnajc14 A T 10: 128,652,656 (GRCm39) E571D possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eef1b2 A G 1: 63,217,648 (GRCm39) E44G probably benign Het
Eml6 C T 11: 29,768,447 (GRCm39) V747I probably benign Het
Ext1 T G 15: 53,208,550 (GRCm39) Q70H probably benign Het
Gbp2b T A 3: 142,303,940 (GRCm39) C12S probably damaging Het
Gbp8 A C 5: 105,179,093 (GRCm39) D135E probably benign Het
Gm12886 A T 4: 121,273,916 (GRCm39) L100* probably null Het
Gpatch1 A T 7: 34,992,983 (GRCm39) probably null Het
Ifit3b A T 19: 34,588,925 (GRCm39) M34L probably benign Het
Il12a G T 3: 68,602,899 (GRCm39) D160Y probably damaging Het
Klhl2 A G 8: 65,212,816 (GRCm39) L241P probably damaging Het
Krt80 T C 15: 101,256,610 (GRCm39) E195G probably benign Het
Lgi1 T C 19: 38,289,738 (GRCm39) V268A probably damaging Het
Lrrfip1 A T 1: 91,032,850 (GRCm39) D216V probably damaging Het
Meis3 A G 7: 15,917,789 (GRCm39) N314S probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A T 16: 48,965,451 (GRCm39) I1119F possibly damaging Het
Nav2 A T 7: 49,141,204 (GRCm39) Q916H probably benign Het
Ncam2 A T 16: 81,229,606 (GRCm39) Q22L probably damaging Het
Or5b118 A T 19: 13,448,402 (GRCm39) I23F probably benign Het
P2rx4 G A 5: 122,865,814 (GRCm39) V329M probably damaging Het
Peg10 A G 6: 4,754,279 (GRCm39) probably benign Het
Pgp T C 17: 24,690,375 (GRCm39) L267P probably damaging Het
Pou2af2 G A 9: 51,201,504 (GRCm39) T184M probably damaging Het
Prdm2 A C 4: 142,859,520 (GRCm39) S1257A probably benign Het
Prr12 T C 7: 44,695,164 (GRCm39) N1434S unknown Het
Psmc3ip A T 11: 100,985,999 (GRCm39) H40Q probably damaging Het
Ptprc A T 1: 138,016,283 (GRCm39) N526K probably damaging Het
Sec63 T A 10: 42,667,249 (GRCm39) D138E probably damaging Het
Serpinb13 A G 1: 106,926,663 (GRCm39) N220D probably benign Het
Siva1 G A 12: 112,611,344 (GRCm39) probably benign Het
Slc39a12 A G 2: 14,454,728 (GRCm39) H546R probably damaging Het
Slc7a1 G A 5: 148,271,468 (GRCm39) A497V probably benign Het
Smg5 G T 3: 88,249,859 (GRCm39) K95N probably damaging Het
Speer1a G A 5: 11,394,134 (GRCm39) V78M probably damaging Het
Traj50 T A 14: 54,405,101 (GRCm39) probably benign Het
Ubr3 T C 2: 69,813,472 (GRCm39) V1261A probably damaging Het
Zc3h11a A T 1: 133,566,700 (GRCm39) probably null Het
Other mutations in Cdk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02343:Cdk1 APN 10 69,176,331 (GRCm39) missense probably benign
IGL02875:Cdk1 APN 10 69,178,366 (GRCm39) splice site probably benign
IGL03295:Cdk1 APN 10 69,178,373 (GRCm39) missense possibly damaging 0.88
R0064:Cdk1 UTSW 10 69,180,907 (GRCm39) missense probably benign 0.34
R0064:Cdk1 UTSW 10 69,180,907 (GRCm39) missense probably benign 0.34
R0413:Cdk1 UTSW 10 69,180,929 (GRCm39) missense probably benign 0.00
R1635:Cdk1 UTSW 10 69,174,377 (GRCm39) missense probably damaging 1.00
R4173:Cdk1 UTSW 10 69,180,991 (GRCm39) missense probably benign 0.19
R5154:Cdk1 UTSW 10 69,176,298 (GRCm39) unclassified probably benign
R8222:Cdk1 UTSW 10 69,176,426 (GRCm39) missense probably benign 0.00
R8755:Cdk1 UTSW 10 69,176,435 (GRCm39) missense probably benign 0.02
R9681:Cdk1 UTSW 10 69,178,449 (GRCm39) missense possibly damaging 0.89
RF023:Cdk1 UTSW 10 69,176,328 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- CACAGTGACATCTGCACATATACAG -3'
(R):5'- AAGCTGTCTGGGTGCTTATC -3'

Sequencing Primer
(F):5'- GTCCAGATGACAGTTTACAAA -3'
(R):5'- ATAGAGGGCAGGCTTCTA -3'
Posted On 2018-09-12