Incidental Mutation 'IGL02377:Ccne1'
ID 291202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccne1
Ensembl Gene ENSMUSG00000002068
Gene Name cyclin E1
Synonyms CycE1, cyclin E
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02377
Quality Score
Status
Chromosome 7
Chromosomal Location 37797409-37806915 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 37798415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108023] [ENSMUST00000124979] [ENSMUST00000130329]
AlphaFold Q61457
Predicted Effect probably null
Transcript: ENSMUST00000108023
SMART Domains Protein: ENSMUSP00000103658
Gene: ENSMUSG00000002068

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 noncoding transcript
Transcript: ENSMUST00000128785
Predicted Effect probably benign
Transcript: ENSMUST00000130329
SMART Domains Protein: ENSMUSP00000117662
Gene: ENSMUSG00000002068

DomainStartEndE-ValueType
Pfam:Cyclin_N 113 167 5.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137097
Coding Region Coverage
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,937,689 (GRCm39) probably benign Het
Abca15 T C 7: 119,965,133 (GRCm39) probably benign Het
App T C 16: 84,879,719 (GRCm39) Q138R probably benign Het
Asah2 T A 19: 31,986,814 (GRCm39) I529F probably benign Het
Atp8b3 A G 10: 80,356,128 (GRCm39) S1195P probably benign Het
Brca1 A G 11: 101,415,149 (GRCm39) M134T probably benign Het
Cacna1s T C 1: 135,996,732 (GRCm39) L111P probably damaging Het
Capns2 A T 8: 93,628,215 (GRCm39) N35Y probably benign Het
Cfap91 G T 16: 38,153,181 (GRCm39) probably benign Het
Csf1r G T 18: 61,257,540 (GRCm39) probably benign Het
Dipk2b T A X: 18,313,930 (GRCm39) I131F possibly damaging Het
Dlg3 A T X: 99,817,007 (GRCm39) Y326F possibly damaging Het
Dnah8 T C 17: 31,013,770 (GRCm39) V3837A probably damaging Het
Dock10 A G 1: 80,562,711 (GRCm39) probably null Het
Emg1 A G 6: 124,681,620 (GRCm39) V208A probably benign Het
Eml6 T A 11: 29,727,282 (GRCm39) D1280V probably damaging Het
Ep400 T C 5: 110,868,691 (GRCm39) D911G unknown Het
Fam171a1 T C 2: 3,224,623 (GRCm39) probably null Het
Fcgbp T C 7: 27,806,395 (GRCm39) V2121A possibly damaging Het
Fggy G A 4: 95,511,714 (GRCm39) probably benign Het
Fignl1 G T 11: 11,752,845 (GRCm39) T70K possibly damaging Het
Fndc3b T C 3: 27,674,801 (GRCm39) E47G probably damaging Het
Frmd4a A G 2: 4,539,385 (GRCm39) K189E possibly damaging Het
Hpse T A 5: 100,839,199 (GRCm39) Y383F probably damaging Het
Ip6k2 T C 9: 108,681,798 (GRCm39) L197P probably damaging Het
Klf1 A C 8: 85,631,561 (GRCm39) H375P probably damaging Het
Krtap6-5 T A 16: 88,844,734 (GRCm39) probably benign Het
Lacc1 A T 14: 77,267,055 (GRCm39) S403T probably damaging Het
Lama3 A G 18: 12,689,807 (GRCm39) I2850V possibly damaging Het
Lats2 C T 14: 57,929,052 (GRCm39) R941Q probably damaging Het
Lgals3bp A T 11: 118,284,290 (GRCm39) Y430N probably benign Het
Lrig3 A T 10: 125,850,743 (GRCm39) H1103L probably benign Het
Lrrc40 G A 3: 157,742,365 (GRCm39) M1I probably null Het
Magee2 A T X: 103,900,399 (GRCm39) V84D possibly damaging Het
Msantd2 G A 9: 37,434,602 (GRCm39) V281I possibly damaging Het
Mycbpap A G 11: 94,394,076 (GRCm39) V340A probably damaging Het
Myh6 A T 14: 55,181,775 (GRCm39) M1842K probably benign Het
Mylk4 T C 13: 32,906,130 (GRCm39) D145G possibly damaging Het
Nfkbid C T 7: 30,124,689 (GRCm39) Q160* probably null Het
Or11h6 T A 14: 50,879,975 (GRCm39) probably null Het
Or2y1d A T 11: 49,321,859 (GRCm39) K185N probably damaging Het
Or5w1b T A 2: 87,475,630 (GRCm39) Y279F probably damaging Het
Or7e168 C T 9: 19,720,343 (GRCm39) S243F probably damaging Het
Or8c11 A T 9: 38,289,542 (GRCm39) T122S probably damaging Het
Or9q2 T G 19: 13,772,693 (GRCm39) Q94P possibly damaging Het
Pdgfrb A C 18: 61,213,404 (GRCm39) Q916P probably damaging Het
Pex14 T C 4: 149,050,743 (GRCm39) Q174R probably benign Het
Pogz T C 3: 94,786,321 (GRCm39) S970P probably damaging Het
Potegl T C 2: 23,102,667 (GRCm39) probably benign Het
Rabggta A G 14: 55,955,952 (GRCm39) V165A possibly damaging Het
Rdh10 G A 1: 16,176,438 (GRCm39) W66* probably null Het
Ripor2 T A 13: 24,879,549 (GRCm39) probably benign Het
Slc35g1 T A 19: 38,391,678 (GRCm39) M320K possibly damaging Het
Slc9a7 A G X: 20,068,963 (GRCm39) Y197H probably damaging Het
Smn1 T C 13: 100,272,192 (GRCm39) probably benign Het
Spam1 G A 6: 24,796,696 (GRCm39) G216S probably damaging Het
Spata31 A T 13: 65,068,194 (GRCm39) N114I probably damaging Het
Sptbn1 A T 11: 30,069,491 (GRCm39) V1615D possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc2 T A X: 40,914,355 (GRCm39) Q1005H possibly damaging Het
Thra G A 11: 98,652,742 (GRCm39) R189Q probably damaging Het
Trappc11 A T 8: 47,983,685 (GRCm39) probably null Het
Vps13d G T 4: 144,882,934 (GRCm39) H886Q probably damaging Het
Zfp157 G A 5: 138,445,859 (GRCm39) W71* probably null Het
Other mutations in Ccne1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Ccne1 APN 7 37,805,726 (GRCm39) missense probably benign 0.22
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
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
Posted On 2015-04-16