Incidental Mutation 'R6981:Ccne1'
ID 542678
Institutional Source Beutler Lab
Gene Symbol Ccne1
Ensembl Gene ENSMUSG00000002068
Gene Name cyclin E1
Synonyms CycE1, cyclin E
MMRRC Submission 045089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6981 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 37797409-37806915 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 37797998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108023] [ENSMUST00000124979] [ENSMUST00000130329]
AlphaFold Q61457
Predicted Effect unknown
Transcript: ENSMUST00000108023
AA Change: V390E
SMART Domains Protein: ENSMUSP00000103658
Gene: ENSMUSG00000002068
AA Change: V390E

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
SMART Domains Protein: ENSMUSP00000117662
Gene: ENSMUSG00000002068

DomainStartEndE-ValueType
Pfam:Cyclin_N 113 167 5.4e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,184,544 (GRCm39) probably benign Het
5031439G07Rik A C 15: 84,833,798 (GRCm39) Y419* probably null Het
Abca2 T A 2: 25,334,151 (GRCm39) F1809L probably damaging Het
Ache C T 5: 137,289,940 (GRCm39) T423I probably benign Het
Acvrl1 A G 15: 101,036,226 (GRCm39) T395A probably damaging Het
Ap3b2 A G 7: 81,127,741 (GRCm39) I145T probably damaging Het
Arhgef4 A C 1: 34,761,533 (GRCm39) Q263P unknown Het
Asgr2 C T 11: 69,987,636 (GRCm39) L45F probably damaging Het
Baiap2l1 T A 5: 144,222,389 (GRCm39) Y122F possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Car8 A T 4: 8,185,650 (GRCm39) probably null Het
Carns1 T C 19: 4,220,081 (GRCm39) T385A probably benign Het
Ccdc47 T C 11: 106,093,563 (GRCm39) T41A probably benign Het
Cdh4 C T 2: 179,439,297 (GRCm39) T148I probably benign Het
Cep85 C T 4: 133,879,572 (GRCm39) R392Q probably damaging Het
Ces1h T C 8: 94,080,123 (GRCm39) T464A unknown Het
Cfl1 T A 19: 5,542,644 (GRCm39) S41R possibly damaging Het
Crnn T C 3: 93,055,442 (GRCm39) V76A probably damaging Het
Cspg4 A G 9: 56,794,385 (GRCm39) T707A probably benign Het
Dgkh A T 14: 78,865,182 (GRCm39) C53* probably null Het
Dhx34 G T 7: 15,949,255 (GRCm39) A391E possibly damaging Het
Dlx1 C A 2: 71,362,697 (GRCm39) N201K probably benign Het
Dnah6 T C 6: 72,998,161 (GRCm39) E4087G probably benign Het
Dock6 T C 9: 21,756,846 (GRCm39) Y134C probably damaging Het
Duox2 A G 2: 122,121,708 (GRCm39) V662A possibly damaging Het
Dusp12 A G 1: 170,708,530 (GRCm39) F12L probably damaging Het
Eppk1 T C 15: 75,995,237 (GRCm39) E548G probably benign Het
Foxj2 A G 6: 122,819,798 (GRCm39) D562G probably benign Het
Foxj2 A G 6: 122,805,403 (GRCm39) I92V probably damaging Het
Gm17728 A G 17: 9,640,991 (GRCm39) R34G probably damaging Het
Gpc6 T C 14: 117,861,960 (GRCm39) I292T probably damaging Het
Gpr15 T A 16: 58,538,548 (GRCm39) K180N probably benign Het
Gtf2ird1 G T 5: 134,412,776 (GRCm39) probably benign Het
H2ac12 A G 13: 22,219,719 (GRCm39) S2P probably benign Het
Hps3 T A 3: 20,076,984 (GRCm39) T393S probably damaging Het
Hspa1a A T 17: 35,189,267 (GRCm39) probably null Het
Hydin A G 8: 111,257,704 (GRCm39) E2378G possibly damaging Het
Ighv1-18 A G 12: 114,646,298 (GRCm39) L102P probably damaging Het
Itga5 T A 15: 103,258,653 (GRCm39) N814I probably benign Het
Kcnb2 T C 1: 15,780,480 (GRCm39) S451P probably damaging Het
Klhl32 T G 4: 24,709,030 (GRCm39) I112L probably damaging Het
Knstrn T G 2: 118,664,575 (GRCm39) I47R possibly damaging Het
Med23 T A 10: 24,771,722 (GRCm39) S581T possibly damaging Het
Mgat5 C T 1: 127,318,588 (GRCm39) T361I probably damaging Het
Nipal3 A G 4: 135,206,858 (GRCm39) V112A probably damaging Het
Or10a5 T A 7: 106,635,956 (GRCm39) V198D possibly damaging Het
Or2b2 A G 13: 21,887,243 (GRCm39) E24G probably benign Het
Or4k41 T C 2: 111,279,697 (GRCm39) F71L probably benign Het
Or5g27 A G 2: 85,409,825 (GRCm39) M81V probably benign Het
Paxip1 G A 5: 27,970,766 (GRCm39) Q528* probably null Het
Proser2 T C 2: 6,118,801 (GRCm39) D14G probably damaging Het
Rp1 T G 1: 4,415,878 (GRCm39) I1745L probably benign Het
Rxfp2 G T 5: 149,972,313 (GRCm39) probably null Het
Slc45a1 T C 4: 150,723,051 (GRCm39) S278G possibly damaging Het
Smurf1 A G 5: 144,823,179 (GRCm39) I455T possibly damaging Het
Speg T C 1: 75,407,557 (GRCm39) L3188P probably damaging Het
Tcaf3 G T 6: 42,574,059 (GRCm39) A51D probably damaging Het
Tecrl T C 5: 83,502,768 (GRCm39) N12S possibly damaging Het
Tmem17 T A 11: 22,468,508 (GRCm39) I149N possibly damaging Het
Tmem171 A G 13: 98,828,976 (GRCm39) V58A possibly damaging Het
Ttn A G 2: 76,691,521 (GRCm39) probably benign Het
Ubqln5 A G 7: 103,777,808 (GRCm39) S339P probably benign Het
Vmn1r16 T A 6: 57,300,473 (GRCm39) I50L probably benign Het
Vmn2r103 A T 17: 20,013,739 (GRCm39) Y177F probably benign Het
Zfp28 C A 7: 6,397,692 (GRCm39) T709K probably damaging Het
Zfp958 A G 8: 4,676,170 (GRCm39) N46S probably benign Het
Zyx T A 6: 42,327,291 (GRCm39) V30E unknown 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
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
R7835:Ccne1 UTSW 7 37,802,270 (GRCm39) missense probably benign 0.03
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'- GATGCACCTCTCCATAGAGCAC -3'
(R):5'- AGTCTGTGTCTCAGTATGCGAATAC -3'

Sequencing Primer
(F):5'- TAGAGCACAGCATCTGCAG -3'
(R):5'- GCTGACCTTGAACTCAGAAGTCTG -3'
Posted On 2018-11-28