Incidental Mutation 'R7288:Cdk6'
ID 566149
Institutional Source Beutler Lab
Gene Symbol Cdk6
Ensembl Gene ENSMUSG00000040274
Gene Name cyclin dependent kinase 6
Synonyms Crk2
MMRRC Submission 045395-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7288 (G1)
Quality Score 175.009
Status Not validated
Chromosome 5
Chromosomal Location 3391485-3581008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3479001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 127 (F127Y)
Ref Sequence ENSEMBL: ENSMUSP00000037925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042410] [ENSMUST00000165117]
AlphaFold Q64261
Predicted Effect probably benign
Transcript: ENSMUST00000042410
AA Change: F127Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037925
Gene: ENSMUSG00000040274
AA Change: F127Y

DomainStartEndE-ValueType
S_TKc 13 300 4.26e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165117
AA Change: F127Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126024
Gene: ENSMUSG00000040274
AA Change: F127Y

DomainStartEndE-ValueType
S_TKc 13 300 4.26e-100 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cyclin dependent kinase family of proteins that play important roles in the progression and regulation of the cell cycle. The encoded protein binds to a D-type cyclin to form an active kinase complex to regulate progression through the G1 phase of the cell cycle. Mice lacking the encoded protein exhibit thymic and splenic hypoplasia, and hematopoietic defects such as reduced number of megakaryocytes and erythrocytes. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display hematopoietic abnormalities affecting spleen and thymus size. Female body weight and fertility are also reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,131 (GRCm39) D204E probably benign Het
Adh1 T G 3: 137,988,493 (GRCm39) D155E probably benign Het
Akt1s1 T C 7: 44,498,571 (GRCm39) L2P unknown Het
Ash1l T A 3: 88,873,199 (GRCm39) probably benign Het
Bend7 C T 2: 4,757,641 (GRCm39) P228S probably damaging Het
Bpifc T C 10: 85,824,585 (GRCm39) E218G possibly damaging Het
Cgnl1 A T 9: 71,632,846 (GRCm39) H168Q possibly damaging Het
Chd7 C T 4: 8,847,093 (GRCm39) T1612I possibly damaging Het
Col4a4 A T 1: 82,470,184 (GRCm39) C782S unknown Het
Copg2 T A 6: 30,801,341 (GRCm39) I364L probably damaging Het
Crygb A G 1: 65,121,084 (GRCm39) L81P probably benign Het
Cyp4f18 A T 8: 72,747,017 (GRCm39) M326K probably damaging Het
Dhx34 A G 7: 15,949,361 (GRCm39) S356P probably benign Het
Dmbt1 C T 7: 130,685,519 (GRCm39) Q855* probably null Het
Dnai3 T C 3: 145,787,007 (GRCm39) T343A probably damaging Het
Dnph1 A G 17: 46,809,938 (GRCm39) N160S probably benign Het
Esrra A T 19: 6,890,139 (GRCm39) C228* probably null Het
Evpl T C 11: 116,114,775 (GRCm39) N972D probably benign Het
Fat3 T C 9: 15,909,888 (GRCm39) D2038G probably damaging Het
Fhit T A 14: 9,763,784 (GRCm38) R102W probably damaging Het
Gal3st1 A T 11: 3,948,609 (GRCm39) D272V probably damaging Het
Gal3st1 T A 11: 3,948,651 (GRCm39) V286D probably damaging Het
Gemin4 A T 11: 76,104,206 (GRCm39) M185K possibly damaging Het
Hecw1 T C 13: 14,490,821 (GRCm39) I311V probably benign Het
Ift172 T C 5: 31,442,630 (GRCm39) Y179C probably damaging Het
Ighv7-3 C T 12: 114,116,963 (GRCm39) W66* probably null Het
Iqgap3 T A 3: 88,016,142 (GRCm39) I975N probably damaging Het
Khdrbs3 A G 15: 68,921,262 (GRCm39) E281G possibly damaging Het
Lamb2 A T 9: 108,365,523 (GRCm39) T1369S probably benign Het
Mettl8 A T 2: 70,812,382 (GRCm39) D84E probably benign Het
Mrgprb3 C A 7: 48,293,059 (GRCm39) C164F probably damaging Het
Mtg2 A G 2: 179,725,180 (GRCm39) Y131C probably damaging Het
Nacc1 C T 8: 85,403,174 (GRCm39) A234T probably benign Het
Nsmaf C T 4: 6,416,641 (GRCm39) V551I probably benign Het
Or13a26 T A 7: 140,284,942 (GRCm39) C259* probably null Het
Or7e175 T A 9: 20,048,737 (GRCm39) Y108* probably null Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Pcdhb12 T A 18: 37,569,068 (GRCm39) D71E probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pkm A G 9: 59,576,196 (GRCm39) S127G probably benign Het
Plxna2 T A 1: 194,479,227 (GRCm39) L1296H probably damaging Het
Ppil6 C G 10: 41,374,524 (GRCm39) T135R probably benign Het
Ppp2r3d T C 9: 101,004,203 (GRCm39) Y378C probably damaging Het
Rabep2 C T 7: 126,043,377 (GRCm39) R426C probably damaging Het
Rad21 A T 15: 51,845,976 (GRCm39) H31Q possibly damaging Het
Rad50 G T 11: 53,545,776 (GRCm39) Y1182* probably null Het
Serpinb9c C T 13: 33,335,883 (GRCm39) A218T possibly damaging Het
Slc34a1 C A 13: 24,003,095 (GRCm39) H248Q probably benign Het
Slc45a4 C A 15: 73,458,785 (GRCm39) E255* probably null Het
Slc8a3 T A 12: 81,263,598 (GRCm39) K596N possibly damaging Het
Tbc1d32 A C 10: 55,927,483 (GRCm39) probably null Het
Tbl2 T A 5: 135,183,253 (GRCm39) I112N possibly damaging Het
Tchp A C 5: 114,853,630 (GRCm39) K238T probably damaging Het
Tfap2d G A 1: 19,189,207 (GRCm39) G251D probably damaging Het
Thrb T A 14: 18,030,186 (GRCm38) M324K probably damaging Het
Tmem259 A T 10: 79,814,300 (GRCm39) L328Q probably damaging Het
Tmtc2 T C 10: 105,249,469 (GRCm39) H88R probably damaging Het
Tnfrsf21 A G 17: 43,348,709 (GRCm39) H107R possibly damaging Het
Trib1 T C 15: 59,526,471 (GRCm39) V347A probably benign Het
Ung T A 5: 114,269,315 (GRCm39) L9* probably null Het
Vmn1r195 G T 13: 22,463,174 (GRCm39) V215F probably damaging Het
Wdr90 A G 17: 26,065,286 (GRCm39) S1657P probably benign Het
Wdsub1 A T 2: 59,708,487 (GRCm39) Y129N possibly damaging Het
Zfp369 T G 13: 65,432,832 (GRCm39) probably null Het
Zfp770 G T 2: 114,026,142 (GRCm39) C642* probably null Het
Zfp981 C T 4: 146,622,100 (GRCm39) R342C probably benign Het
Zhx3 A C 2: 160,623,042 (GRCm39) V375G probably damaging Het
Other mutations in Cdk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4737:Cdk6 UTSW 5 3,394,211 (GRCm39) start gained probably benign
R0583:Cdk6 UTSW 5 3,523,183 (GRCm39) missense probably damaging 0.99
R1474:Cdk6 UTSW 5 3,523,217 (GRCm39) missense probably benign 0.23
R1538:Cdk6 UTSW 5 3,570,675 (GRCm39) missense probably benign 0.02
R2104:Cdk6 UTSW 5 3,394,387 (GRCm39) missense probably benign 0.16
R3029:Cdk6 UTSW 5 3,440,817 (GRCm39) critical splice donor site probably null
R4886:Cdk6 UTSW 5 3,394,444 (GRCm39) missense possibly damaging 0.82
R4939:Cdk6 UTSW 5 3,394,377 (GRCm39) missense probably null 0.99
R5421:Cdk6 UTSW 5 3,523,120 (GRCm39) missense probably damaging 1.00
R5583:Cdk6 UTSW 5 3,394,436 (GRCm39) missense probably damaging 1.00
R6247:Cdk6 UTSW 5 3,394,553 (GRCm39) splice site probably null
R7014:Cdk6 UTSW 5 3,523,152 (GRCm39) missense probably damaging 1.00
R7102:Cdk6 UTSW 5 3,570,709 (GRCm39) missense probably damaging 1.00
R8204:Cdk6 UTSW 5 3,394,461 (GRCm39) missense probably damaging 1.00
R8225:Cdk6 UTSW 5 3,440,790 (GRCm39) missense probably benign 0.23
R8261:Cdk6 UTSW 5 3,440,685 (GRCm39) missense probably benign 0.02
Z1176:Cdk6 UTSW 5 3,440,694 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- CCACCAGTGATTGTTTGAGGTTTAG -3'
(R):5'- ATGATCTCACTTACCACCGAGG -3'

Sequencing Primer
(F):5'- CAGGGAAAACTATTCTTAAGCTGTCC -3'
(R):5'- ACCGAGGTAAGGGCCATCTG -3'
Posted On 2019-06-26