Incidental Mutation 'IGL02415:E2f5'
ID292416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f5
Ensembl Gene ENSMUSG00000027552
Gene NameE2F transcription factor 5
SynonymsE2F-5
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.728) question?
Stock #IGL02415
Quality Score
Status
Chromosome3
Chromosomal Location14578641-14606309 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 14603897 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 D124G probably benign Het
Adamts13 T A 2: 26,989,283 I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 probably null Het
Amy1 T C 3: 113,563,585 I202V probably benign Het
Bdp1 G A 13: 100,089,408 T322I probably damaging Het
Cep295 A G 9: 15,353,020 L110S probably damaging Het
Cep72 T C 13: 74,050,154 D369G probably benign Het
Chd3 A T 11: 69,348,913 probably benign Het
Ckmt2 G A 13: 91,863,340 probably benign Het
Cyp2s1 T C 7: 25,808,137 T296A probably damaging Het
F5 A G 1: 164,191,929 T658A probably damaging Het
Fam102b A G 3: 108,980,292 Y219H probably damaging Het
Gml A T 15: 74,816,440 Y59* probably null Het
Kmo A T 1: 175,649,323 probably benign Het
Krt25 A T 11: 99,322,572 I107N probably damaging Het
Llgl2 A G 11: 115,853,285 M773V probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Med12 T C X: 101,281,790 V761A probably damaging Het
Mrpl19 T C 6: 81,963,961 T150A probably benign Het
Muc2 G T 7: 141,751,872 E646* probably null Het
Muc20 T A 16: 32,794,681 T109S unknown Het
Nr2f6 T C 8: 71,374,512 T382A probably benign Het
Nrap A G 19: 56,382,309 I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 C127R probably benign Het
P3h1 A T 4: 119,247,955 Q710L probably benign Het
Parvb A G 15: 84,292,815 H185R probably damaging Het
Pkhd1 A G 1: 20,414,421 I1970T probably damaging Het
Pkhd1 T C 1: 20,522,759 Y1710C probably damaging Het
Plxna2 C A 1: 194,643,964 R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 N284S possibly damaging Het
Reln T A 5: 21,971,951 S1906C possibly damaging Het
Rln1 T C 19: 29,334,398 R67G probably damaging Het
Shcbp1 C T 8: 4,754,239 V224I possibly damaging Het
Slc13a4 A G 6: 35,283,237 probably null Het
Stx6 A G 1: 155,193,313 E195G possibly damaging Het
Sult2b1 G T 7: 45,742,085 D90E possibly damaging Het
Taok1 A G 11: 77,540,240 probably benign Het
Tbx15 A T 3: 99,352,510 M566L probably benign Het
Tcaf1 C T 6: 42,686,650 A99T probably benign Het
Tcf20 T A 15: 82,853,459 M1264L probably benign Het
Tenm4 G A 7: 96,874,074 V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 probably benign Het
Ubr1 C A 2: 120,970,603 probably benign Het
Ulk1 T C 5: 110,787,621 D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 T332I probably damaging Het
Wdr1 C A 5: 38,531,110 D161Y probably damaging Het
Wnt7a T C 6: 91,394,557 Y141C probably damaging Het
Xrra1 G A 7: 99,915,943 E573K probably benign Het
Zfp334 G T 2: 165,381,851 Q91K possibly damaging Het
Other mutations in E2f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:E2f5 APN 3 14587303 splice site probably benign
IGL02388:E2f5 APN 3 14588280 missense probably benign 0.00
R0401:E2f5 UTSW 3 14579025 critical splice donor site probably null
R1977:E2f5 UTSW 3 14587356 missense probably damaging 1.00
R2434:E2f5 UTSW 3 14579014 missense probably damaging 1.00
R3029:E2f5 UTSW 3 14603665 missense probably benign 0.37
R4405:E2f5 UTSW 3 14603763 missense probably benign 0.09
R4407:E2f5 UTSW 3 14603763 missense probably benign 0.09
R4780:E2f5 UTSW 3 14587319 missense probably benign 0.01
R6627:E2f5 UTSW 3 14603857 missense probably benign 0.06
Posted On2015-04-16