Incidental Mutation 'R2235:E2f4'
ID 240398
Institutional Source Beutler Lab
Gene Symbol E2f4
Ensembl Gene ENSMUSG00000014859
Gene Name E2F transcription factor 4
Synonyms 2010111M04Rik
MMRRC Submission 040236-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2235 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106024295-106032002 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106025283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 121 (V121E)
Ref Sequence ENSEMBL: ENSMUSP00000015003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000057855] [ENSMUST00000212777]
AlphaFold Q8R0K9
Predicted Effect probably damaging
Transcript: ENSMUST00000015003
AA Change: V121E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859
AA Change: V121E

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
E2F_TDP 17 83 3.56e-31 SMART
Pfam:E2F_CC-MB 100 196 2.8e-36 PFAM
low complexity region 201 252 N/A INTRINSIC
low complexity region 360 372 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057855
SMART Domains Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251

DomainStartEndE-ValueType
Pfam:Sec6 189 722 5.4e-116 PFAM
low complexity region 723 739 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212261
Predicted Effect probably benign
Transcript: ENSMUST00000212777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212974
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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 evolutionally conserved domains found 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 binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die postnatally of an increased susceptibility to bacterial infection and exhibit craniofacial defects, erythroid abnormalities, and growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,619,023 (GRCm39) V256A probably benign Het
Acbd6 A G 1: 155,434,454 (GRCm39) D24G probably damaging Het
Adcy2 A T 13: 68,816,611 (GRCm39) Y792N probably damaging Het
Alpk1 T C 3: 127,474,569 (GRCm39) K478R probably benign Het
Atad2b T G 12: 5,056,745 (GRCm39) F867C probably damaging Het
Bach1 A G 16: 87,517,001 (GRCm39) D514G probably damaging Het
BC035947 A T 1: 78,474,599 (GRCm39) D644E probably damaging Het
Chrm4 A G 2: 91,758,875 (GRCm39) S428G probably benign Het
Clca3a1 G T 3: 144,714,829 (GRCm39) P596Q possibly damaging Het
Cldn34b3 A T X: 75,310,830 (GRCm39) I133F probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Csta1 C T 16: 35,945,445 (GRCm39) V23I probably damaging Het
Cts6 T A 13: 61,343,247 (GRCm39) I325F probably damaging Het
Dnah6 T C 6: 73,077,068 (GRCm39) D2347G probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
Fhip1a A T 3: 85,568,408 (GRCm39) L1037Q probably damaging Het
Fndc11 A G 2: 180,864,067 (GRCm39) S291G possibly damaging Het
Hid1 A G 11: 115,241,945 (GRCm39) I555T probably damaging Het
Hyou1 C T 9: 44,300,388 (GRCm39) T855M probably benign Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Itprid1 A T 6: 55,874,797 (GRCm39) H249L possibly damaging Het
Kcnab1 T A 3: 65,226,888 (GRCm39) V189D probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc49 A T 9: 60,505,440 (GRCm39) F538L possibly damaging Het
Ly6h A G 15: 75,437,038 (GRCm39) S113P probably benign Het
Mto1 A C 9: 78,364,846 (GRCm39) T362P possibly damaging Het
Myot A G 18: 44,487,339 (GRCm39) D392G probably damaging Het
Or10a3 A G 7: 108,480,172 (GRCm39) F214L probably benign Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Osbpl6 T C 2: 76,417,113 (GRCm39) F577L probably damaging Het
Otc A G X: 10,169,606 (GRCm39) Q216R probably benign Het
Pds5a A T 5: 65,811,441 (GRCm39) F331I probably damaging Het
Pld3 G A 7: 27,240,532 (GRCm39) T136M probably benign Het
Prph2 A T 17: 47,222,092 (GRCm39) D157V probably damaging Het
Racgap1 A G 15: 99,524,417 (GRCm39) S357P probably benign Het
Ralgapa1 A T 12: 55,763,856 (GRCm39) H1403Q probably benign Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sel1l2 T C 2: 140,086,085 (GRCm39) Y502C probably damaging Het
Sis A T 3: 72,820,527 (GRCm39) F1412L probably benign Het
Slc4a11 T C 2: 130,527,544 (GRCm39) E617G probably benign Het
Smap1 T C 1: 23,898,139 (GRCm39) N99S probably benign Het
Smg7 A T 1: 152,744,064 (GRCm39) Y40N probably damaging Het
Sox4 C T 13: 29,136,613 (GRCm39) R131Q probably damaging Het
Spaca6 T C 17: 18,058,507 (GRCm39) probably null Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Thap4 G T 1: 93,652,934 (GRCm39) Q441K probably benign Het
Tmprss11c G T 5: 86,429,945 (GRCm39) T40K probably benign Het
Tpr T A 1: 150,317,843 (GRCm39) F2117Y probably benign Het
Traf5 T C 1: 191,738,806 (GRCm39) M125V probably damaging Het
Trim65 G T 11: 116,021,503 (GRCm39) T110K possibly damaging Het
Ubp1 T G 9: 113,793,712 (GRCm39) S340R probably damaging Het
Vit T C 17: 78,912,867 (GRCm39) S267P probably benign Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Zfp990 T A 4: 145,264,461 (GRCm39) H486Q probably damaging Het
Zkscan6 T C 11: 65,719,098 (GRCm39) S373P probably benign Het
Other mutations in E2f4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:E2f4 APN 8 106,030,809 (GRCm39) unclassified probably benign
IGL01642:E2f4 APN 8 106,027,968 (GRCm39) missense probably damaging 1.00
R0488:E2f4 UTSW 8 106,025,171 (GRCm39) missense probably damaging 0.97
R0534:E2f4 UTSW 8 106,030,851 (GRCm39) missense probably damaging 1.00
R0835:E2f4 UTSW 8 106,027,140 (GRCm39) nonsense probably null
R1548:E2f4 UTSW 8 106,031,320 (GRCm39) makesense probably null
R2120:E2f4 UTSW 8 106,026,973 (GRCm39) missense probably damaging 1.00
R2233:E2f4 UTSW 8 106,025,283 (GRCm39) missense probably damaging 1.00
R7369:E2f4 UTSW 8 106,026,966 (GRCm39) missense probably benign 0.00
R7731:E2f4 UTSW 8 106,025,265 (GRCm39) missense probably damaging 0.99
R8265:E2f4 UTSW 8 106,027,977 (GRCm39) missense probably damaging 1.00
R8293:E2f4 UTSW 8 106,024,451 (GRCm39) missense probably damaging 0.98
R9283:E2f4 UTSW 8 106,024,395 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- TGGCACCCAGAGATCTTAGG -3'
(R):5'- GAAATTTCTGGAACCTGGGGTC -3'

Sequencing Primer
(F):5'- ATCTTAGGGATCCCACGCTCAG -3'
(R):5'- TGGAAGAGACTGGAGCCTCC -3'
Posted On 2014-10-15