Mutagenetix > Incidental Mutation

Incidental Mutation 'R7253:E2f7'

568591

Institutional Source

Beutler Lab

Gene Symbol

E2f7

Ensembl Gene

ENSMUSG00000020185

Gene Name

E2F transcription factor 7

Synonyms

D10Ertd739e, A630014C11Rik, E2F7

MMRRC Submission

045314-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R7253 (G1)

Quality Score

119.008

Status

Validated

Chromosome

Chromosomal Location

110581300-110623245 bp(+) (GRCm39)

Type of Mutation

splice site (529 bp from exon)

DNA Base Change (assembly)

A to G at 110602164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073781] [ENSMUST00000173471]

AlphaFold

Q6S7F2

Predicted Effect

probably null
Transcript: ENSMUST00000073781

SMART Domains

Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185

Domain	Start	End	E-Value	Type
E2F_TDP	143	212	1.12e-28	SMART
E2F_TDP	283	368	1.28e-32	SMART
low complexity region	591	602	N/A	INTRINSIC
low complexity region	755	767	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173471

SMART Domains

Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	143	212	1.8e-23	PFAM
Pfam:E2F_TDP	283	368	3.7e-24	PFAM
low complexity region	591	602	N/A	INTRINSIC
low complexity region	755	767	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173948

SMART Domains

Protein: ENSMUSP00000134039
Gene: ENSMUSG00000020185

Domain	Start	End	E-Value	Type
E2F_TDP	29	98	1.12e-28	SMART
E2F_TDP	169	219	3.34e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop normally through puberty and survive to old age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,391 (GRCm39)	H199R	not run	Het
Ak9	A	G	10: 41,308,480 (GRCm39)	N1804S	unknown	Het
Akr1c21	C	A	13: 4,627,139 (GRCm39)	T147N	probably damaging	Het
Aldh1a2	A	G	9: 71,123,216 (GRCm39)	T30A	probably benign	Het
Alox15	T	C	11: 70,236,724 (GRCm39)	D447G	probably damaging	Het
Amigo2	T	C	15: 97,142,956 (GRCm39)	I489V	probably benign	Het
Ano9	A	T	7: 140,687,350 (GRCm39)	Y322N	probably damaging	Het
Arhgap40	G	T	2: 158,389,576 (GRCm39)	W583L	probably benign	Het
Atxn2	A	G	5: 121,916,084 (GRCm39)	E430G	probably damaging	Het
Brip1	T	C	11: 86,034,104 (GRCm39)	Y539C	possibly damaging	Het
C87436	T	A	6: 86,442,790 (GRCm39)	L454Q	probably damaging	Het
Casp4	T	G	9: 5,324,868 (GRCm39)	Y227D	probably benign	Het
Ccn6	T	G	10: 39,031,031 (GRCm39)	N164T	probably benign	Het
Chd4	T	A	6: 125,083,555 (GRCm39)		probably null	Het
Chrna10	A	G	7: 101,761,293 (GRCm39)	C433R	probably benign	Het
Cntln	A	T	4: 85,036,710 (GRCm39)	N214I	probably damaging	Het
Colec12	G	A	18: 9,848,922 (GRCm39)	V367I	probably damaging	Het
Cyp46a1	T	C	12: 108,318,255 (GRCm39)	I222T	probably benign	Het
Dagla	A	T	19: 10,239,945 (GRCm39)		probably null	Het
Dcaf7	C	A	11: 105,938,669 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Fam184a	G	T	10: 53,574,901 (GRCm39)	T236K	probably benign	Het
Glyctk	T	C	9: 106,032,661 (GRCm39)	T451A	probably damaging	Het
Hectd4	A	G	5: 121,452,944 (GRCm39)	K484E	possibly damaging	Het
Hspbap1	G	T	16: 35,637,600 (GRCm39)	C243F	unknown	Het
Hspg2	A	C	4: 137,247,257 (GRCm39)	N1160T	probably benign	Het
Ighv5-8	C	T	12: 113,618,728 (GRCm39)	L48F	probably benign	Het
Jazf1	C	A	6: 52,754,637 (GRCm39)	E146D	probably benign	Het
Katnb1	C	T	8: 95,822,125 (GRCm39)	Q284*	probably null	Het
Kctd18	G	T	1: 58,001,115 (GRCm39)	Y213*	probably null	Het
Klk1b26	T	C	7: 43,664,213 (GRCm39)	S23P	possibly damaging	Het
Krt88	T	C	15: 101,348,392 (GRCm39)	L26P	probably damaging	Het
Lrrc8b	G	A	5: 105,629,522 (GRCm39)	V623I	probably benign	Het
Map3k4	T	A	17: 12,490,955 (GRCm39)	M159L	probably benign	Het
Mast3	C	A	8: 71,242,326 (GRCm39)		probably null	Het
Mier1	G	A	4: 102,996,544 (GRCm39)		probably null	Het
Mrpl46	T	C	7: 78,431,207 (GRCm39)	D117G	probably damaging	Het
Ms4a6b	A	G	19: 11,497,760 (GRCm39)	S20G	probably benign	Het
Mup10	A	T	4: 60,538,077 (GRCm39)	M4K	unknown	Het
Nlrp5	C	T	7: 23,116,816 (GRCm39)	A180V	possibly damaging	Het
Nlrx1	T	A	9: 44,176,001 (GRCm39)		probably null	Het
Odad3	T	C	9: 21,913,767 (GRCm39)	T2A	probably damaging	Het
Or2a52	T	C	6: 43,144,744 (GRCm39)	F251L	probably damaging	Het
Or2t45	T	C	11: 58,669,822 (GRCm39)	Y290H	probably damaging	Het
Or4c103	T	C	2: 88,513,969 (GRCm39)	T36A	possibly damaging	Het
Or51aa2	C	T	7: 103,187,995 (GRCm39)	A149T	probably benign	Het
Or5af2	T	A	11: 58,708,366 (GRCm39)	C177*	probably null	Het
Or5ak22	A	G	2: 85,229,983 (GRCm39)	I298T	probably benign	Het
Otud1	C	A	2: 19,663,742 (GRCm39)	D290E	probably damaging	Het
Pank4	A	G	4: 155,055,377 (GRCm39)	N249S	probably benign	Het
Pccb	G	T	9: 100,913,966 (GRCm39)	S84R	probably benign	Het
Pemt	A	T	11: 59,862,081 (GRCm39)	H194Q	possibly damaging	Het
Phtf2	A	G	5: 20,970,856 (GRCm39)	I634T	possibly damaging	Het
Pias2	T	G	18: 77,207,811 (GRCm39)	I232R	probably damaging	Het
Plce1	A	G	19: 38,686,952 (GRCm39)	E620G	probably damaging	Het
Pramel17	A	T	4: 101,692,725 (GRCm39)	V425E	probably benign	Het
Ptpn13	G	A	5: 103,713,150 (GRCm39)	E1758K	possibly damaging	Het
Ptprq	T	A	10: 107,444,134 (GRCm39)	Q1490L	probably benign	Het
Ptx3	G	T	3: 66,132,368 (GRCm39)	M296I	probably benign	Het
R3hdm2	C	T	10: 127,317,644 (GRCm39)	P464L	probably damaging	Het
Rapgef1	A	G	2: 29,589,733 (GRCm39)	E258G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,122 (GRCm39)		probably benign	Het
Senp8	T	C	9: 59,644,478 (GRCm39)	N226S	probably benign	Het
Six5	C	T	7: 18,828,901 (GRCm39)	R114C	probably damaging	Het
Slc10a1	T	C	12: 81,004,958 (GRCm39)	T195A	probably benign	Het
Slpi	G	T	2: 164,197,467 (GRCm39)	Q51K	probably benign	Het
Smarca4	T	C	9: 21,570,256 (GRCm39)	V753A	probably benign	Het
Tbc1d32	C	A	10: 56,074,537 (GRCm39)	M225I	probably benign	Het
Tent5a	C	A	9: 85,208,770 (GRCm39)	G18C	probably benign	Het
Tnfrsf21	G	A	17: 43,348,558 (GRCm39)	V57I	probably benign	Het
Trim44	G	T	2: 102,177,313 (GRCm39)	P336T	possibly damaging	Het
Txlnb	A	G	10: 17,703,633 (GRCm39)	I264V	probably damaging	Het
Xirp2	A	C	2: 67,343,826 (GRCm39)	E2022D	probably benign	Het
Zfp975	A	G	7: 42,311,036 (GRCm39)	*526R	probably null	Het
Zp1	A	G	19: 10,893,933 (GRCm39)	L424P	probably damaging	Het

Other mutations in E2f7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:E2f7	APN	10	110,589,954 (GRCm39)	missense	probably benign	0.09
IGL01592:E2f7	APN	10	110,582,267 (GRCm39)	missense	possibly damaging	0.86
IGL01614:E2f7	APN	10	110,595,839 (GRCm39)	missense	probably damaging	1.00
IGL01829:E2f7	APN	10	110,614,955 (GRCm39)	missense	probably benign	0.00
IGL01843:E2f7	APN	10	110,610,596 (GRCm39)	missense	probably benign	0.01
IGL02683:E2f7	APN	10	110,618,320 (GRCm39)	missense	probably benign	0.28
IGL03229:E2f7	APN	10	110,590,207 (GRCm39)	missense	probably benign	0.04
R0245:E2f7	UTSW	10	110,610,656 (GRCm39)	nonsense	probably null
R2108:E2f7	UTSW	10	110,616,763 (GRCm39)	missense	probably benign	0.20
R2259:E2f7	UTSW	10	110,582,204 (GRCm39)	missense	probably damaging	0.99
R3408:E2f7	UTSW	10	110,620,578 (GRCm39)	missense	possibly damaging	0.57
R4356:E2f7	UTSW	10	110,595,712 (GRCm39)	missense	probably damaging	0.98
R4542:E2f7	UTSW	10	110,602,984 (GRCm39)	missense	probably damaging	1.00
R4763:E2f7	UTSW	10	110,616,710 (GRCm39)	missense	probably damaging	0.97
R5236:E2f7	UTSW	10	110,603,070 (GRCm39)	missense	probably damaging	1.00
R5520:E2f7	UTSW	10	110,595,806 (GRCm39)	missense	probably damaging	1.00
R6481:E2f7	UTSW	10	110,610,542 (GRCm39)	missense	probably damaging	1.00
R7320:E2f7	UTSW	10	110,599,991 (GRCm39)	missense	not run
R7348:E2f7	UTSW	10	110,616,836 (GRCm39)	missense	probably damaging	0.98
R8219:E2f7	UTSW	10	110,595,704 (GRCm39)	missense	probably damaging	1.00
R8530:E2f7	UTSW	10	110,614,859 (GRCm39)	missense	probably benign	0.31
R8887:E2f7	UTSW	10	110,610,674 (GRCm39)	missense	probably benign	0.02
R8958:E2f7	UTSW	10	110,601,615 (GRCm39)	missense	probably damaging	0.98
R9092:E2f7	UTSW	10	110,616,874 (GRCm39)	missense	probably benign	0.01
R9166:E2f7	UTSW	10	110,618,085 (GRCm39)	missense	probably benign	0.04
R9192:E2f7	UTSW	10	110,599,851 (GRCm39)	missense	probably damaging	1.00
R9454:E2f7	UTSW	10	110,620,542 (GRCm39)	missense	probably benign	0.00
R9474:E2f7	UTSW	10	110,614,918 (GRCm39)	missense	probably damaging	0.99
R9474:E2f7	UTSW	10	110,603,050 (GRCm39)	missense	probably damaging	1.00
R9538:E2f7	UTSW	10	110,616,628 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- ACTTCTCTGAAGGGTGGAGATG -3'
(R):5'- CATTGCACGTATGAAAGTGGG -3'

Sequencing Primer
(F):5'- TGAAAGTTGTCTACAGGTAAGCAG -3'
(R):5'- CACGTATGAAAGTGGGGAGACAC -3'

Posted On

2019-08-28