Mutagenetix > Incidental Mutation

Incidental Mutation 'R6480:Ccne1'

517034

Institutional Source

Beutler Lab

Gene Symbol

Ccne1

Ensembl Gene

ENSMUSG00000002068

Gene Name

cyclin E1

Synonyms

CycE1, cyclin E

MMRRC Submission

044612-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6480 (G1)

Quality Score

206.009

Status

Not validated

Chromosome

Chromosomal Location

37797409-37806915 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 37806279 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

probably benign
Transcript: ENSMUST00000108023

SMART Domains

Protein: ENSMUSP00000103658
Gene: ENSMUSG00000002068

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Cyclin_N	113	167	5.4e-12	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl8b	T	A	6: 108,792,010 (GRCm39)	N90K	possibly damaging	Het
Art3	T	C	5: 92,540,676 (GRCm39)	F140L	probably damaging	Het
Ascc3	T	A	10: 50,587,049 (GRCm39)	M967K	probably damaging	Het
Cdc14b	T	C	13: 64,373,464 (GRCm39)		probably null	Het
Ceacam2	T	A	7: 25,219,414 (GRCm39)	E282V	probably damaging	Het
Clk4	T	A	11: 51,161,373 (GRCm39)	C86*	probably null	Het
Cul2	A	C	18: 3,417,561 (GRCm39)	K115T	possibly damaging	Het
Dhx29	A	T	13: 113,090,322 (GRCm39)	K800*	probably null	Het
Dlec1	T	C	9: 118,976,758 (GRCm39)	F1741S	probably benign	Het
Dnah12	A	G	14: 26,594,412 (GRCm39)	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd4	A	T	7: 140,874,706 (GRCm39)	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,003,466 (GRCm39)	Y273*	probably null	Het
Fbn1	T	A	2: 125,177,338 (GRCm39)	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,361,899 (GRCm39)	I121V	probably benign	Het
Glg1	T	C	8: 111,924,338 (GRCm39)	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,703,810 (GRCm39)	S32P	probably benign	Het
Itgax	C	A	7: 127,747,771 (GRCm39)	F1062L	probably benign	Het
Lct	G	A	1: 128,222,057 (GRCm39)	T1494I	probably damaging	Het
Lilra6	G	A	7: 3,915,932 (GRCm39)	T309I	probably damaging	Het
Mical3	T	C	6: 121,011,236 (GRCm39)	T321A	possibly damaging	Het
Mmp23	T	A	4: 155,736,798 (GRCm39)	N104I	probably damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ndufs2	A	G	1: 171,064,267 (GRCm39)	S348P	probably damaging	Het
Nepro	T	C	16: 44,547,438 (GRCm39)	S52P	probably damaging	Het
Nlrp6	A	G	7: 140,507,356 (GRCm39)	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,090,590 (GRCm39)	V9A	probably benign	Het
Or1q1	T	C	2: 36,887,007 (GRCm39)	F62L	probably benign	Het
Or2a7	T	C	6: 43,151,000 (GRCm39)	F27L	probably benign	Het
Or5b105	T	A	19: 13,079,838 (GRCm39)	T277S	probably benign	Het
Or6c3	A	T	10: 129,308,590 (GRCm39)	I10F	possibly damaging	Het
Per2	A	T	1: 91,357,104 (GRCm39)		probably null	Het
Pgbd1	T	C	13: 21,607,646 (GRCm39)	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,676,195 (GRCm39)	V113A	probably benign	Het
Pipox	A	G	11: 77,773,474 (GRCm39)	L259P	probably damaging	Het
Pkd1l3	C	T	8: 110,365,019 (GRCm39)	Q1124*	probably null	Het
Plcd3	A	G	11: 102,965,757 (GRCm39)	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,248,411 (GRCm39)	M142R	probably benign	Het
Rwdd3	T	C	3: 120,950,101 (GRCm39)	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,250,818 (GRCm39)	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,202,297 (GRCm39)	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,043,617 (GRCm39)	M91I	probably damaging	Het
Spg11	T	C	2: 121,922,786 (GRCm39)	S888G	probably benign	Het
Spta1	A	T	1: 174,014,714 (GRCm39)		probably null	Het
Stk35	C	A	2: 129,652,607 (GRCm39)	D369E	possibly damaging	Het
Tanc1	T	C	2: 59,637,986 (GRCm39)	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 126,798,050 (GRCm39)	N697S	probably damaging	Het
Tcof1	A	T	18: 60,947,852 (GRCm39)		probably null	Het
Tg	T	A	15: 66,543,160 (GRCm39)	Y25N	probably damaging	Het
Thbs1	T	C	2: 117,949,598 (GRCm39)	C563R	probably damaging	Het
Tlr11	A	G	14: 50,600,512 (GRCm39)	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,294,976 (GRCm39)	H550L	probably benign	Het
Utp20	A	G	10: 88,591,048 (GRCm39)		probably null	Het
Wbp1l	T	A	19: 46,642,758 (GRCm39)	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,556,078 (GRCm39)	S161R	possibly damaging	Het
Zfp865	A	G	7: 5,032,782 (GRCm39)	T256A	probably damaging	Het
Zpr1	A	G	9: 46,186,009 (GRCm39)	D160G	probably benign	Het

Other mutations in Ccne1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

Posted On

2018-05-21