Incidental Mutation 'R3029:E2f5'
Institutional Source Beutler Lab
Gene Symbol E2f5
Ensembl Gene ENSMUSG00000027552
Gene NameE2F transcription factor 5
MMRRC Submission 040545-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.702) question?
Stock #R3029 (G1)
Quality Score225
Status Not validated
Chromosomal Location14578641-14606309 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14603665 bp
Amino Acid Change Isoleucine to Valine at position 206 (I206V)
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: I205V

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029069
Gene: ENSMUSG00000027552
AA Change: I205V

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

signal peptide 1 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165922
AA Change: I206V

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127877
Gene: ENSMUSG00000027552
AA Change: I206V

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik A G 1: 85,718,245 I213T probably benign Het
Atp8a2 CGT CGTGT 14: 59,691,465 probably null Het
Cdh15 G A 8: 122,862,024 R279Q probably damaging Het
Cdk6 G A 5: 3,390,817 probably null Het
Cryab T A 9: 50,756,338 I124N probably damaging Het
Eya4 T C 10: 23,123,878 T396A probably benign Het
Fat2 T C 11: 55,284,709 Y1726C probably damaging Het
Gad1 G A 2: 70,594,690 V443I probably benign Het
H2-M11 C T 17: 36,548,150 T194I possibly damaging Het
Ighv7-2 A G 12: 113,912,480 F2L probably benign Het
Itgad T A 7: 128,178,371 I141N possibly damaging Het
Kcnh1 C T 1: 192,506,060 T970M probably benign Het
Mrc2 G A 11: 105,348,431 probably null Het
Nlrp1a T A 11: 71,123,630 T265S probably damaging Het
Nsun4 A G 4: 116,052,725 S213P possibly damaging Het
Pkdrej C T 15: 85,817,004 R1577Q probably benign Het
Proz A T 8: 13,061,042 I5F probably benign Het
Rbm48 A T 5: 3,596,043 F54I possibly damaging Het
Rgs20 T C 1: 5,070,053 D42G probably benign Het
Rxfp2 A C 5: 150,043,130 D111A probably benign Het
Sparcl1 T C 5: 104,093,226 T111A possibly damaging Het
Vmn2r14 T A 5: 109,215,910 L713F probably 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
IGL02415:E2f5 APN 3 14603897 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-02-05