Mutagenetix > Incidental Mutation

Incidental Mutation 'R5666:E2f1'

444401

Institutional Source

Beutler Lab

Gene Symbol

E2f1

Ensembl Gene

ENSMUSG00000027490

Gene Name

E2F transcription factor 1

Synonyms

E2F-1

MMRRC Submission

043309-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R5666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154401327-154411812 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 154411101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000894] [ENSMUST00000103145]

AlphaFold

Q61501

Predicted Effect

probably benign
Transcript: ENSMUST00000000894

SMART Domains

Protein: ENSMUSP00000000894
Gene: ENSMUSG00000027490

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:E2F_TDP	77	142	1.1e-25	PFAM
low complexity region	156	173	N/A	INTRINSIC
low complexity region	273	295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103145

SMART Domains

Protein: ENSMUSP00000099434
Gene: ENSMUSG00000027490

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
E2F_TDP	122	187	1.63e-30	SMART
Pfam:E2F_CC-MB	201	294	2.2e-37	PFAM
low complexity region	318	340	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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 is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show defective T lymphocyte development, impaired pancreatic growth and beta cell function, altered glucose homeostasis, testicular atrophy, salivary gland and adipose tissue defects, and increased tumor induction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Abce1	C	A	8: 80,416,906 (GRCm39)	E368D	probably benign	Het
Becn2	C	T	1: 175,749,179 (GRCm39)	T415M	probably damaging	Het
Bmper	T	A	9: 23,384,759 (GRCm39)	M588K	probably damaging	Het
Bop1	T	C	15: 76,338,433 (GRCm39)	E503G	probably benign	Het
Btla	A	T	16: 45,070,782 (GRCm39)	D247V	probably damaging	Het
Cap2	T	A	13: 46,684,559 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Chd3	T	C	11: 69,244,177 (GRCm39)	E1202G	possibly damaging	Het
Cmya5	T	C	13: 93,182,457 (GRCm39)	I3568V	possibly damaging	Het
Col4a4	A	G	1: 82,463,300 (GRCm39)		probably null	Het
Cpxm2	C	T	7: 131,656,625 (GRCm39)	E546K	probably benign	Het
Cyp2j5	C	T	4: 96,546,930 (GRCm39)	V195I	probably benign	Het
Ddb2	C	T	2: 91,042,926 (GRCm39)	V353M	probably damaging	Het
Dscam	G	A	16: 96,519,364 (GRCm39)	T791I	probably benign	Het
Dtd2	T	A	12: 52,046,643 (GRCm39)	L65F	probably damaging	Het
Ephb3	A	G	16: 21,041,241 (GRCm39)	N732S	probably benign	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Foxm1	C	T	6: 128,350,130 (GRCm39)	S339L	possibly damaging	Het
Fzd6	A	T	15: 38,894,510 (GRCm39)	R225S	probably benign	Het
Gfpt1	A	T	6: 87,030,795 (GRCm39)	I60F	possibly damaging	Het
Glce	A	G	9: 61,967,793 (GRCm39)	S453P	probably damaging	Het
Gm4787	G	A	12: 81,424,805 (GRCm39)	T451I	probably benign	Het
Hs2st1	A	T	3: 144,275,554 (GRCm39)	V22E	probably damaging	Het
Hspa9	T	C	18: 35,087,300 (GRCm39)	I2V	probably null	Het
Ikzf2	A	G	1: 69,617,059 (GRCm39)	V96A	probably benign	Het
Ilkap	T	C	1: 91,318,863 (GRCm39)	T38A	probably benign	Het
Lpin3	A	G	2: 160,739,250 (GRCm39)	T353A	probably benign	Het
Myh1	T	A	11: 67,112,178 (GRCm39)	I1744N	probably benign	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Ndc1	T	C	4: 107,246,723 (GRCm39)	V382A	possibly damaging	Het
Ndufaf4	A	T	4: 24,898,636 (GRCm39)	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,507,462 (GRCm39)	T213A	probably benign	Het
Nkain4	A	G	2: 180,584,995 (GRCm39)	L73P	probably damaging	Het
Nmt1	C	T	11: 102,949,041 (GRCm39)	R299*	probably null	Het
Or1j20	T	A	2: 36,760,401 (GRCm39)	D274E	probably benign	Het
Or2y8	A	C	11: 52,035,525 (GRCm39)	Y277*	probably null	Het
Or4b12	T	C	2: 90,096,308 (GRCm39)	I155M	probably benign	Het
Or5k1	G	A	16: 58,617,424 (GRCm39)	P262S	possibly damaging	Het
Padi2	G	T	4: 140,676,542 (GRCm39)	R560L	possibly damaging	Het
Palmd	T	C	3: 116,717,750 (GRCm39)	N249S	possibly damaging	Het
Pde1c	A	C	6: 56,103,842 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,334,156 (GRCm39)	S410P	probably benign	Het
Phldb1	T	C	9: 44,627,078 (GRCm39)	M456V	probably damaging	Het
Pla2g2d	T	A	4: 138,507,591 (GRCm39)	C82S	probably damaging	Het
Rgs21	A	G	1: 144,412,680 (GRCm39)	V48A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc4a2	G	T	5: 24,639,836 (GRCm39)	V506L	probably damaging	Het
Slc7a4	A	G	16: 17,393,815 (GRCm39)		probably benign	Het
Sptbn5	C	G	2: 119,916,048 (GRCm39)		probably benign	Het
Sstr2	T	A	11: 113,515,539 (GRCm39)	W153R	probably damaging	Het
Steap2	C	T	5: 5,723,681 (GRCm39)	V400I	probably benign	Het
Syne2	G	A	12: 75,997,733 (GRCm39)	G2236D	probably benign	Het
Tas2r130	T	C	6: 131,607,342 (GRCm39)	N151S	possibly damaging	Het
Tex52	T	C	6: 128,352,518 (GRCm39)	S13P	probably benign	Het
Tmprss13	A	G	9: 45,256,253 (GRCm39)	I456V	probably damaging	Het
Trim24	T	C	6: 37,942,536 (GRCm39)	F946S	probably benign	Het
Vmn2r10	A	T	5: 109,146,910 (GRCm39)	Y459*	probably null	Het
Vwa1	A	G	4: 155,858,922 (GRCm39)	L13P	probably damaging	Het
Zfp648	C	A	1: 154,079,963 (GRCm39)	Q41K	probably benign	Het

Other mutations in E2f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0666:E2f1	UTSW	2	154,402,849 (GRCm39)	missense	probably benign	0.01
R0674:E2f1	UTSW	2	154,406,029 (GRCm39)	missense	probably damaging	1.00
R1796:E2f1	UTSW	2	154,402,849 (GRCm39)	missense	probably benign	0.02
R3747:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3751:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3752:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3753:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3843:E2f1	UTSW	2	154,402,748 (GRCm39)	missense	probably benign	0.00
R3844:E2f1	UTSW	2	154,402,748 (GRCm39)	missense	probably benign	0.00
R3968:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3969:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3970:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R4409:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R4700:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R5396:E2f1	UTSW	2	154,406,368 (GRCm39)	missense	probably benign	0.00
R6368:E2f1	UTSW	2	154,406,396 (GRCm39)	missense	possibly damaging	0.81
R9348:E2f1	UTSW	2	154,402,755 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2016-11-09