Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02415:E2f5'

292416

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E2f5

Ensembl Gene

ENSMUSG00000027552

Gene Name

E2F transcription factor 5

Synonyms

E2F-5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.611) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

14643701-14671369 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14668957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 283 (V283E)

Ref Sequence

ENSEMBL: ENSMUSP00000127877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029069] [ENSMUST00000108365] [ENSMUST00000165922] [ENSMUST00000185384] [ENSMUST00000185423] [ENSMUST00000186870]

AlphaFold

Q61502

Predicted Effect

probably benign
Transcript: ENSMUST00000029069
AA Change: V282E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029069
Gene: ENSMUSG00000027552
AA Change: V282E

Domain	Start	End	E-Value	Type
low complexity region	6	33	N/A	INTRINSIC
Pfam:E2F_TDP	40	106	3.3e-28	PFAM
coiled coil region	111	146	N/A	INTRINSIC
low complexity region	223	256	N/A	INTRINSIC
low complexity region	283	293	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108365

SMART Domains

Protein: ENSMUSP00000104002
Gene: ENSMUSG00000078784

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165922
AA Change: V283E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127877
Gene: ENSMUSG00000027552
AA Change: V283E

Domain	Start	End	E-Value	Type
low complexity region	6	33	N/A	INTRINSIC
E2F_TDP	40	106	8.76e-31	SMART
Pfam:E2F_CC-MB	123	221	6.9e-35	PFAM
low complexity region	224	257	N/A	INTRINSIC
low complexity region	284	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185384

Predicted Effect

probably benign
Transcript: ENSMUST00000185423

Predicted Effect

probably benign
Transcript: ENSMUST00000186870

Coding Region Coverage

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 evolutionarily conserved domains that are present 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 is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop non-obstructive hydrocephalus, ruffled coats, ataxic gait, and dehydration after weaning and die prematurely at an average age of 6 weeks. They exhibit dilated ventricles and cerebral cortex atrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,777,056 (GRCm39)	D124G	probably benign	Het
Adamts13	T	A	2: 26,879,295 (GRCm39)	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,854,506 (GRCm39)		probably null	Het
Amy1	T	C	3: 113,357,234 (GRCm39)	I202V	probably benign	Het
Bdp1	G	A	13: 100,225,916 (GRCm39)	T322I	probably damaging	Het
Cep295	A	G	9: 15,264,316 (GRCm39)	L110S	probably damaging	Het
Cep72	T	C	13: 74,198,273 (GRCm39)	D369G	probably benign	Het
Chd3	A	T	11: 69,239,739 (GRCm39)		probably benign	Het
Ckmt2	G	A	13: 92,011,459 (GRCm39)		probably benign	Het
Cyp2s1	T	C	7: 25,507,562 (GRCm39)	T296A	probably damaging	Het
Eeig2	A	G	3: 108,887,608 (GRCm39)	Y219H	probably damaging	Het
F5	A	G	1: 164,019,498 (GRCm39)	T658A	probably damaging	Het
Gml	A	T	15: 74,688,289 (GRCm39)	Y59*	probably null	Het
Kmo	A	T	1: 175,476,889 (GRCm39)		probably benign	Het
Krt25	A	T	11: 99,213,398 (GRCm39)	I107N	probably damaging	Het
Llgl2	A	G	11: 115,744,111 (GRCm39)	M773V	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Med12	T	C	X: 100,325,396 (GRCm39)	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,940,942 (GRCm39)	T150A	probably benign	Het
Muc2	G	T	7: 141,305,609 (GRCm39)	E646*	probably null	Het
Muc20	T	A	16: 32,615,051 (GRCm39)	T109S	unknown	Het
Nr2f6	T	C	8: 71,827,156 (GRCm39)	T382A	probably benign	Het
Nrap	A	G	19: 56,370,741 (GRCm39)	I172T	probably damaging	Het
Or5an1	A	G	19: 12,260,862 (GRCm39)	Y150C	probably benign	Het
Or8b47	T	C	9: 38,435,408 (GRCm39)	C127R	probably benign	Het
P3h1	A	T	4: 119,105,152 (GRCm39)	Q710L	probably benign	Het
Parvb	A	G	15: 84,177,016 (GRCm39)	H185R	probably damaging	Het
Pkhd1	A	G	1: 20,484,645 (GRCm39)	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,592,983 (GRCm39)	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,326,272 (GRCm39)	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,506,930 (GRCm39)	N284S	possibly damaging	Het
Reln	T	A	5: 22,176,949 (GRCm39)	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,311,798 (GRCm39)	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,804,239 (GRCm39)	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,260,172 (GRCm39)		probably null	Het
Stx6	A	G	1: 155,069,059 (GRCm39)	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,391,509 (GRCm39)	D90E	possibly damaging	Het
Taok1	A	G	11: 77,431,066 (GRCm39)		probably benign	Het
Tbx15	A	T	3: 99,259,826 (GRCm39)	M566L	probably benign	Het
Tcaf1	C	T	6: 42,663,584 (GRCm39)	A99T	probably benign	Het
Tcf20	T	A	15: 82,737,660 (GRCm39)	M1264L	probably benign	Het
Tenm4	G	A	7: 96,523,281 (GRCm39)	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,288,726 (GRCm39)		probably benign	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Ulk1	T	C	5: 110,935,487 (GRCm39)	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,804,033 (GRCm39)	I181V	probably benign	Het
Vmn2r66	G	A	7: 84,656,020 (GRCm39)	T332I	probably damaging	Het
Wdr1	C	A	5: 38,688,453 (GRCm39)	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,371,539 (GRCm39)	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,565,150 (GRCm39)	E573K	probably benign	Het
Zfp334	G	T	2: 165,223,771 (GRCm39)	Q91K	possibly damaging	Het

Other mutations in E2f5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:E2f5	APN	3	14,652,363 (GRCm39)	splice site	probably benign
IGL02388:E2f5	APN	3	14,653,340 (GRCm39)	missense	probably benign	0.00
R0401:E2f5	UTSW	3	14,644,085 (GRCm39)	critical splice donor site	probably null
R1977:E2f5	UTSW	3	14,652,416 (GRCm39)	missense	probably damaging	1.00
R2434:E2f5	UTSW	3	14,644,074 (GRCm39)	missense	probably damaging	1.00
R3029:E2f5	UTSW	3	14,668,725 (GRCm39)	missense	probably benign	0.37
R4405:E2f5	UTSW	3	14,668,823 (GRCm39)	missense	probably benign	0.09
R4407:E2f5	UTSW	3	14,668,823 (GRCm39)	missense	probably benign	0.09
R4780:E2f5	UTSW	3	14,652,379 (GRCm39)	missense	probably benign	0.01
R6627:E2f5	UTSW	3	14,668,917 (GRCm39)	missense	probably benign	0.06
R9557:E2f5	UTSW	3	14,653,311 (GRCm39)	missense	probably benign	0.09

Posted On

2015-04-16