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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R7253 (G1)

Quality Score

119.008

Status

Validated

Chromosome

Chromosomal Location

110745439-110787384 bp(+) (GRCm38)

Type of Mutation

splice site (529 bp from exon)

DNA Base Change (assembly)

A to G at 110766303 bp (GRCm38)

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	H199R	not run	Het
Ak9	A	G	10: 41,432,484	N1804S	unknown	Het
Akr1c21	C	A	13: 4,577,140	T147N	probably damaging	Het
Aldh1a2	A	G	9: 71,215,934	T30A	probably benign	Het
Alox15	T	C	11: 70,345,898	D447G	probably damaging	Het
Amigo2	T	C	15: 97,245,075	I489V	probably benign	Het
Ano9	A	T	7: 141,107,437	Y322N	probably damaging	Het
Arhgap40	G	T	2: 158,547,656	W583L	probably benign	Het
Atxn2	A	G	5: 121,778,021	E430G	probably damaging	Het
B020004J07Rik	A	T	4: 101,835,528	V425E	probably benign	Het
Brip1	T	C	11: 86,143,278	Y539C	possibly damaging	Het
C87436	T	A	6: 86,465,808	L454Q	probably damaging	Het
Casp4	T	G	9: 5,324,868	Y227D	probably benign	Het
Ccdc151	T	C	9: 22,002,471	T2A	probably damaging	Het
Chd4	T	A	6: 125,106,592		probably null	Het
Chrna10	A	G	7: 102,112,086	C433R	probably benign	Het
Cntln	A	T	4: 85,118,473	N214I	probably damaging	Het
Colec12	G	A	18: 9,848,922	V367I	probably damaging	Het
Cyp46a1	T	C	12: 108,351,996	I222T	probably benign	Het
Dagla	A	T	19: 10,262,581		probably null	Het
Dcaf7	C	A	11: 106,047,843		probably null	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Fam184a	G	T	10: 53,698,805	T236K	probably benign	Het
Fam46a	C	A	9: 85,326,717	G18C	probably benign	Het
Glyctk	T	C	9: 106,155,462	T451A	probably damaging	Het
Hectd4	A	G	5: 121,314,881	K484E	possibly damaging	Het
Hspbap1	G	T	16: 35,817,230	C243F	unknown	Het
Hspg2	A	C	4: 137,519,946	N1160T	probably benign	Het
Ighv5-8	C	T	12: 113,655,108	L48F	probably benign	Het
Jazf1	C	A	6: 52,777,652	E146D	probably benign	Het
Katnb1	C	T	8: 95,095,497	Q284*	probably null	Het
Kctd18	G	T	1: 57,961,956	Y213*	probably null	Het
Klk1b26	T	C	7: 44,014,789	S23P	possibly damaging	Het
Krt88	T	C	15: 101,450,511	L26P	probably damaging	Het
Lrrc8b	G	A	5: 105,481,656	V623I	probably benign	Het
Map3k4	T	A	17: 12,272,068	M159L	probably benign	Het
Mast3	C	A	8: 70,789,682		probably null	Het
Mier1	G	A	4: 103,139,347		probably null	Het
Mrpl46	T	C	7: 78,781,459	D117G	probably damaging	Het
Ms4a6b	A	G	19: 11,520,396	S20G	probably benign	Het
Mup10	A	T	4: 60,582,078	M4K	unknown	Het
Nlrp5	C	T	7: 23,417,391	A180V	possibly damaging	Het
Nlrx1	T	A	9: 44,264,704		probably null	Het
Olfr1195	T	C	2: 88,683,625	T36A	possibly damaging	Het
Olfr313	T	A	11: 58,817,540	C177*	probably null	Het
Olfr315	T	C	11: 58,778,996	Y290H	probably damaging	Het
Olfr437	T	C	6: 43,167,810	F251L	probably damaging	Het
Olfr612	C	T	7: 103,538,788	A149T	probably benign	Het
Olfr992	A	G	2: 85,399,639	I298T	probably benign	Het
Otud1	C	A	2: 19,658,931	D290E	probably damaging	Het
Pank4	A	G	4: 154,970,920	N249S	probably benign	Het
Pccb	G	T	9: 101,031,913	S84R	probably benign	Het
Pemt	A	T	11: 59,971,255	H194Q	possibly damaging	Het
Phtf2	A	G	5: 20,765,858	I634T	possibly damaging	Het
Pias2	T	G	18: 77,120,115	I232R	probably damaging	Het
Plce1	A	G	19: 38,698,508	E620G	probably damaging	Het
Ptpn13	G	A	5: 103,565,284	E1758K	possibly damaging	Het
Ptprq	T	A	10: 107,608,273	Q1490L	probably benign	Het
Ptx3	G	T	3: 66,224,947	M296I	probably benign	Het
R3hdm2	C	T	10: 127,481,775	P464L	probably damaging	Het
Rapgef1	A	G	2: 29,699,721	E258G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,915		probably benign	Het
Senp8	T	C	9: 59,737,195	N226S	probably benign	Het
Six5	C	T	7: 19,094,976	R114C	probably damaging	Het
Slc10a1	T	C	12: 80,958,184	T195A	probably benign	Het
Slpi	G	T	2: 164,355,547	Q51K	probably benign	Het
Smarca4	T	C	9: 21,658,960	V753A	probably benign	Het
Tbc1d32	C	A	10: 56,198,441	M225I	probably benign	Het
Tnfrsf21	G	A	17: 43,037,667	V57I	probably benign	Het
Trim44	G	T	2: 102,346,968	P336T	possibly damaging	Het
Txlnb	A	G	10: 17,827,885	I264V	probably damaging	Het
Wisp3	T	G	10: 39,155,035	N164T	probably benign	Het
Xirp2	A	C	2: 67,513,482	E2022D	probably benign	Het
Zfp975	A	G	7: 42,661,612	*526R	probably null	Het
Zp1	A	G	19: 10,916,569	L424P	probably damaging	Het

Other mutations in E2f7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:E2f7	APN	10	110754093	missense	probably benign	0.09
IGL01592:E2f7	APN	10	110746406	missense	possibly damaging	0.86
IGL01614:E2f7	APN	10	110759978	missense	probably damaging	1.00
IGL01829:E2f7	APN	10	110779094	missense	probably benign	0.00
IGL01843:E2f7	APN	10	110774735	missense	probably benign	0.01
IGL02683:E2f7	APN	10	110782459	missense	probably benign	0.28
IGL03229:E2f7	APN	10	110754346	missense	probably benign	0.04
R0245:E2f7	UTSW	10	110774795	nonsense	probably null
R2108:E2f7	UTSW	10	110780902	missense	probably benign	0.20
R2259:E2f7	UTSW	10	110746343	missense	probably damaging	0.99
R3408:E2f7	UTSW	10	110784717	missense	possibly damaging	0.57
R4356:E2f7	UTSW	10	110759851	missense	probably damaging	0.98
R4542:E2f7	UTSW	10	110767123	missense	probably damaging	1.00
R4763:E2f7	UTSW	10	110780849	missense	probably damaging	0.97
R5236:E2f7	UTSW	10	110767209	missense	probably damaging	1.00
R5520:E2f7	UTSW	10	110759945	missense	probably damaging	1.00
R6481:E2f7	UTSW	10	110774681	missense	probably damaging	1.00
R7320:E2f7	UTSW	10	110764130	missense	not run
R7348:E2f7	UTSW	10	110780975	missense	probably damaging	0.98
R8219:E2f7	UTSW	10	110759843	missense	probably damaging	1.00
R8530:E2f7	UTSW	10	110778998	missense	probably benign	0.31
R8887:E2f7	UTSW	10	110774813	missense	probably benign	0.02
R8958:E2f7	UTSW	10	110765754	missense	probably damaging	0.98
R9092:E2f7	UTSW	10	110781013	missense	probably benign	0.01
R9166:E2f7	UTSW	10	110782224	missense	probably benign	0.04
R9192:E2f7	UTSW	10	110763990	missense	probably damaging	1.00
R9454:E2f7	UTSW	10	110784681	missense	probably benign	0.00
R9474:E2f7	UTSW	10	110767189	missense	probably damaging	1.00
R9474:E2f7	UTSW	10	110779057	missense	probably damaging	0.99
R9538:E2f7	UTSW	10	110780767	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