Incidental Mutation 'R7835:Ccne1'
ID 605915
Institutional Source Beutler Lab
Gene Symbol Ccne1
Ensembl Gene ENSMUSG00000002068
Gene Name cyclin E1
Synonyms CycE1, cyclin E
MMRRC Submission 045889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7835 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 37797409-37806915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37802270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 133 (Q133K)
Ref Sequence ENSEMBL: ENSMUSP00000103658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108023] [ENSMUST00000124979] [ENSMUST00000130329]
AlphaFold Q61457
Predicted Effect probably benign
Transcript: ENSMUST00000108023
AA Change: Q133K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103658
Gene: ENSMUSG00000002068
AA Change: Q133K

DomainStartEndE-ValueType
CYCLIN 148 233 5.88e-26 SMART
Cyclin_C 242 364 2.36e-13 SMART
low complexity region 385 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124979
Predicted Effect probably benign
Transcript: ENSMUST00000130329
AA Change: Q133K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117662
Gene: ENSMUSG00000002068
AA Change: Q133K

DomainStartEndE-ValueType
Pfam:Cyclin_N 113 167 5.4e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,749,623 (GRCm39) S1465T probably benign Het
Accsl T A 2: 93,696,329 (GRCm39) K90* probably null Het
Adamts3 A T 5: 89,848,299 (GRCm39) D674E possibly damaging Het
Adap2 T A 11: 80,051,057 (GRCm39) V129D probably benign Het
Ank3 A G 10: 69,823,557 (GRCm39) D742G Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cachd1 G T 4: 100,831,350 (GRCm39) probably null Het
Cers3 C T 7: 66,423,387 (GRCm39) H111Y possibly damaging Het
Chst5 A T 8: 112,617,234 (GRCm39) L129M probably damaging Het
Depdc7 A G 2: 104,558,530 (GRCm39) S164P probably benign Het
Dnah10 G A 5: 124,854,298 (GRCm39) A1966T probably damaging Het
Fcgbp T G 7: 27,816,632 (GRCm39) S2365A possibly damaging Het
Ihh A G 1: 74,985,525 (GRCm39) V320A probably damaging Het
Kdm5d T C Y: 900,558 (GRCm39) V201A possibly damaging Het
Kif13b T A 14: 65,004,901 (GRCm39) H1117Q probably benign Het
Lcn8 C A 2: 25,545,308 (GRCm39) probably null Het
Lrp4 T C 2: 91,325,387 (GRCm39) V1404A possibly damaging Het
Lrrc61 A T 6: 48,545,506 (GRCm39) T110S probably benign Het
Mrpl19 G A 6: 81,939,107 (GRCm39) R232C probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Mzt1 T C 14: 99,283,439 (GRCm39) T21A probably benign Het
Naip6 G T 13: 100,452,512 (GRCm39) A183E probably benign Het
Neb T C 2: 52,040,589 (GRCm39) D6624G probably benign Het
Nup85 A G 11: 115,460,897 (GRCm39) D183G probably benign Het
Olfm5 A T 7: 103,803,652 (GRCm39) Y195* probably null Het
Or7g16 T A 9: 18,727,105 (GRCm39) M162L probably benign Het
Piezo2 A T 18: 63,216,016 (GRCm39) F1216I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Polr1a T C 6: 71,892,126 (GRCm39) V135A probably benign Het
Ppcdc A G 9: 57,327,559 (GRCm39) S83P probably benign Het
Prss21 A T 17: 24,088,425 (GRCm39) Q130L possibly damaging Het
Rdx T A 9: 51,977,088 (GRCm39) N112K probably damaging Het
Rgs22 A G 15: 36,082,057 (GRCm39) probably null Het
Rps23rg1 A G 8: 3,630,452 (GRCm39) probably benign Het
Rps26 C T 10: 128,461,995 (GRCm39) V40I probably benign Het
Runx2 A T 17: 44,919,123 (GRCm39) M405K probably damaging Het
Serinc2 A C 4: 130,169,280 (GRCm39) C4G unknown Het
Sh3rf2 C A 18: 42,244,235 (GRCm39) R266S probably benign Het
Slc38a10 A G 11: 120,007,822 (GRCm39) I386T possibly damaging Het
Stab2 G A 10: 86,708,483 (GRCm39) P1694L probably benign Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tasor G T 14: 27,198,600 (GRCm39) G1311C probably damaging Het
Tmem102 A G 11: 69,695,171 (GRCm39) V267A probably damaging Het
Trim65 A G 11: 116,021,755 (GRCm39) L26P probably damaging Het
Vmn1r160 T A 7: 22,571,379 (GRCm39) M244K possibly damaging Het
Vmn1r57 A T 7: 5,224,138 (GRCm39) H221L probably benign Het
Wdr89 C A 12: 75,679,673 (GRCm39) V194F probably damaging Het
Wee1 C A 7: 109,730,085 (GRCm39) Y396* probably null Het
Zfp451 A T 1: 33,812,060 (GRCm39) V885D probably damaging Het
Zfp981 A T 4: 146,622,333 (GRCm39) Q419H probably benign Het
Znfx1 A G 2: 166,881,747 (GRCm39) Y1081H probably damaging Het
Other mutations in Ccne1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Ccne1 APN 7 37,805,726 (GRCm39) missense probably benign 0.22
IGL02377:Ccne1 APN 7 37,798,415 (GRCm39) critical splice donor site probably null
IGL02800:Ccne1 APN 7 37,802,224 (GRCm39) missense probably damaging 1.00
R1355:Ccne1 UTSW 7 37,805,747 (GRCm39) missense possibly damaging 0.80
R1938:Ccne1 UTSW 7 37,805,702 (GRCm39) critical splice donor site probably null
R4810:Ccne1 UTSW 7 37,799,018 (GRCm39) missense probably damaging 1.00
R4858:Ccne1 UTSW 7 37,798,744 (GRCm39) missense probably damaging 1.00
R4982:Ccne1 UTSW 7 37,799,996 (GRCm39) missense probably damaging 1.00
R6480:Ccne1 UTSW 7 37,806,279 (GRCm39) start gained probably benign
R6981:Ccne1 UTSW 7 37,797,998 (GRCm39) unclassified probably benign
R7165:Ccne1 UTSW 7 37,798,726 (GRCm39) missense probably damaging 1.00
R7398:Ccne1 UTSW 7 37,805,702 (GRCm39) critical splice donor site probably null
R7458:Ccne1 UTSW 7 37,800,096 (GRCm39) missense probably damaging 1.00
R8744:Ccne1 UTSW 7 37,802,598 (GRCm39) missense probably benign 0.17
R8855:Ccne1 UTSW 7 37,800,046 (GRCm39) missense probably benign
R8866:Ccne1 UTSW 7 37,800,046 (GRCm39) missense probably benign
R9011:Ccne1 UTSW 7 37,806,085 (GRCm39) missense probably benign 0.05
R9185:Ccne1 UTSW 7 37,799,255 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCAACTTTAATATGTCTAAGGGAC -3'
(R):5'- CATTTCAGCCTCGGAAAATCAGAC -3'

Sequencing Primer
(F):5'- AGGGACAAGATTATTTCAGAAACTTC -3'
(R):5'- GACCCATGGCTTCTCAGTG -3'
Posted On 2019-12-20