Mutagenetix > Incidental Mutation

Incidental Mutation 'R7398:Ccne1'

573962

Institutional Source

Beutler Lab

Gene Symbol

Ccne1

Ensembl Gene

ENSMUSG00000002068

Gene Name

cyclin E1

Synonyms

CycE1, cyclin E

MMRRC Submission

045480-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

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 37805702 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 null
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 null
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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	A	2: 31,680,811 (GRCm39)	S368T	probably damaging	Het
Acmsd	A	G	1: 127,657,172 (GRCm39)		probably benign	Het
Arid3b	A	T	9: 57,703,495 (GRCm39)	S445T	probably benign	Het
Brinp1	A	G	4: 68,759,591 (GRCm39)	V91A	probably benign	Het
Col3a1	A	T	1: 45,366,973 (GRCm39)	I249F	unknown	Het
Crybg3	T	C	16: 59,377,688 (GRCm39)	I1189V	probably benign	Het
Cyp2d34	A	T	15: 82,500,964 (GRCm39)	D389E	probably benign	Het
D130043K22Rik	A	C	13: 25,077,360 (GRCm39)	I998L	probably damaging	Het
Dgkq	A	G	5: 108,803,056 (GRCm39)	I298T	possibly damaging	Het
Dnah17	T	C	11: 117,971,550 (GRCm39)	E2161G	probably damaging	Het
Dnajc25	T	C	4: 59,017,824 (GRCm39)		probably null	Het
Dpp9	G	A	17: 56,496,405 (GRCm39)	R768*	probably null	Het
Dusp6	T	A	10: 99,100,740 (GRCm39)	N245K	probably damaging	Het
Eea1	C	A	10: 95,831,493 (GRCm39)	H195N	probably benign	Het
Efhc1	A	G	1: 21,059,744 (GRCm39)	E598G	probably benign	Het
Epb41l1	T	C	2: 156,376,682 (GRCm39)	V809A	probably damaging	Het
Gas8	T	A	8: 124,245,690 (GRCm39)	M1K	probably null	Het
Gcm1	G	A	9: 77,971,961 (GRCm39)	V301I	probably benign	Het
Gm11554	T	A	11: 99,695,085 (GRCm39)	S43C	unknown	Het
Gm7298	A	G	6: 121,758,912 (GRCm39)	I1177V	probably benign	Het
Gm8011	A	G	14: 42,285,918 (GRCm39)	T27A		Het
Hmcn1	A	G	1: 150,522,421 (GRCm39)	I3493T	probably benign	Het
Insrr	T	G	3: 87,716,039 (GRCm39)	I578S	probably damaging	Het
Kif13b	A	G	14: 64,994,972 (GRCm39)	D908G	probably null	Het
Lhcgr	G	C	17: 89,079,474 (GRCm39)	Q71E	probably benign	Het
Lrrc34	T	C	3: 30,697,491 (GRCm39)	D80G	probably damaging	Het
Lrrc7	C	A	3: 157,997,595 (GRCm39)	E156*	probably null	Het
Lrrc9	A	G	12: 72,547,590 (GRCm39)	D1255G	probably damaging	Het
Mcidas	A	G	13: 113,133,416 (GRCm39)	N116D	probably benign	Het
Mmp7	A	G	9: 7,697,594 (GRCm39)	N210D	probably damaging	Het
Morc3	A	G	16: 93,671,748 (GRCm39)	D926G	probably damaging	Het
Mrgpra9	A	G	7: 46,885,385 (GRCm39)	I94T	possibly damaging	Het
Muc16	C	A	9: 18,549,038 (GRCm39)	V5752F	possibly damaging	Het
Myo16	A	T	8: 10,612,183 (GRCm39)	D1276V	unknown	Het
Nlrc4	T	G	17: 74,753,537 (GRCm39)	E282A	probably damaging	Het
Nos2	T	A	11: 78,827,297 (GRCm39)	Y227*	probably null	Het
Obox5	A	C	7: 15,492,713 (GRCm39)	M223L	probably benign	Het
Or10ak13	C	A	4: 118,638,896 (GRCm39)	L295F	possibly damaging	Het
Pygm	G	A	19: 6,435,966 (GRCm39)	R139H	probably damaging	Het
Ranbp2	C	A	10: 58,303,099 (GRCm39)	P789T	probably damaging	Het
Riok2	T	G	17: 17,607,501 (GRCm39)	S350A	probably benign	Het
Rnf214	C	T	9: 45,778,845 (GRCm39)	V445I	possibly damaging	Het
Skida1	C	T	2: 18,051,083 (GRCm39)	V603I	unknown	Het
Skint6	T	A	4: 112,755,335 (GRCm39)	R747S	probably benign	Het
Slc24a5	G	A	2: 124,927,694 (GRCm39)	W331*	probably null	Het
Slc5a10	A	T	11: 61,564,405 (GRCm39)	C525S	probably benign	Het
Styxl2	A	G	1: 165,928,044 (GRCm39)	S523P	probably damaging	Het
Sult2b1	T	C	7: 45,380,718 (GRCm39)	Y288C	probably damaging	Het
Tagln3	G	T	16: 45,543,440 (GRCm39)	N67K	probably damaging	Het
Trav21-dv12	A	T	14: 54,114,162 (GRCm39)	H94L	probably benign	Het
Tshz2	A	G	2: 169,726,094 (GRCm39)	E230G	probably damaging	Het
Usb1	T	A	8: 96,071,931 (GRCm39)	H210Q	probably damaging	Het
Vill	C	T	9: 118,899,716 (GRCm39)	P767L	probably benign	Het
Vmn2r94	A	T	17: 18,477,603 (GRCm39)	N269K	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
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'- TGGTTCCTCCAGGTATCAGTAC -3'
(R):5'- CTTTAGTTGAATGTCGTTCATGACC -3'

Sequencing Primer
(F):5'- GGTATCAGTACCTGTAACCTTAAAGG -3'
(R):5'- GAATGTCGTTCATGACCTAACAAAC -3'

Posted On

2019-09-13