Incidental Mutation 'R1548:E2f4'
ID 172332
Institutional Source Beutler Lab
Gene Symbol E2f4
Ensembl Gene ENSMUSG00000014859
Gene Name E2F transcription factor 4
Synonyms 2010111M04Rik
MMRRC Submission 039587-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1548 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106024295-106032002 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 106031320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 411 (*411W)
Ref Sequence ENSEMBL: ENSMUSP00000015003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000109375] [ENSMUST00000212033] [ENSMUST00000212046]
AlphaFold Q8R0K9
Predicted Effect probably null
Transcript: ENSMUST00000015003
AA Change: *411W
SMART Domains Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859
AA Change: *411W

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 noncoding transcript
Transcript: ENSMUST00000093622
Predicted Effect probably benign
Transcript: ENSMUST00000109375
SMART Domains Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791

DomainStartEndE-ValueType
Pfam:DUF3361 115 268 3.8e-55 PFAM
Pfam:ELMO_CED12 291 468 1.1e-42 PFAM
PH 542 665 2.17e0 SMART
low complexity region 694 706 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184892
Predicted Effect probably benign
Transcript: ENSMUST00000212033
Predicted Effect probably benign
Transcript: ENSMUST00000212046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212572
Meta Mutation Damage Score 0.9577 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (69/70)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,588,818 (GRCm39) R78S probably damaging Het
Acad10 G C 5: 121,764,104 (GRCm39) probably benign Het
Acad10 G T 5: 121,764,103 (GRCm39) probably benign Het
Ang2 C A 14: 51,432,990 (GRCm39) E131* probably null Het
Ankfn1 T C 11: 89,417,367 (GRCm39) N82D probably damaging Het
Anks1b T C 10: 89,885,847 (GRCm39) I181T possibly damaging Het
Bcl2l12 C G 7: 44,642,242 (GRCm39) G215R probably damaging Het
Bnc2 A G 4: 84,194,194 (GRCm39) Y1044H probably damaging Het
Cacna1s T C 1: 136,038,675 (GRCm39) F1172S probably damaging Het
Cct8 A G 16: 87,282,472 (GRCm39) I482T probably damaging Het
Cfap74 C T 4: 155,518,502 (GRCm39) T580I probably benign Het
Cib1 A T 7: 79,878,162 (GRCm39) Y105* probably null Het
Cpa1 G A 6: 30,642,334 (GRCm39) G245D probably damaging Het
Csmd3 A G 15: 47,845,371 (GRCm39) V801A possibly damaging Het
Ddx10 T C 9: 53,060,861 (GRCm39) probably null Het
Ddx4 T C 13: 112,736,531 (GRCm39) N613S probably damaging Het
Drd3 A G 16: 43,641,704 (GRCm39) D340G probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Foxp1 A T 6: 98,922,381 (GRCm39) I450N probably damaging Het
Ftdc1 A T 16: 58,436,202 (GRCm39) D40E probably benign Het
Gpr19 A G 6: 134,847,047 (GRCm39) F175S possibly damaging Het
Gpr21 C T 2: 37,408,084 (GRCm39) T210M probably damaging Het
Grhl2 C T 15: 37,336,567 (GRCm39) A488V probably benign Het
Hif3a T C 7: 16,778,328 (GRCm39) T435A probably benign Het
Hoxb4 C T 11: 96,209,725 (GRCm39) R44* probably null Het
Ifi47 A G 11: 48,986,698 (GRCm39) D155G probably damaging Het
Igdcc4 T C 9: 65,042,509 (GRCm39) L142P probably benign Het
Ints6 G A 14: 62,951,141 (GRCm39) P296L probably damaging Het
Itga3 A G 11: 94,937,745 (GRCm39) probably null Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Krtap20-1 G A 16: 88,812,277 (GRCm39) probably benign Het
Lgals12 A T 19: 7,581,677 (GRCm39) H50Q probably benign Het
Lrp12 A G 15: 39,735,902 (GRCm39) S696P probably damaging Het
Lrp6 G A 6: 134,436,392 (GRCm39) T1258I possibly damaging Het
Meis2 C T 2: 115,889,183 (GRCm39) D190N probably damaging Het
Mir100hg T C 9: 41,492,672 (GRCm39) L116P probably damaging Het
Mon2 C T 10: 122,871,912 (GRCm39) probably benign Het
Muc6 A G 7: 141,238,368 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myo15a A G 11: 60,379,064 (GRCm39) H1394R probably damaging Het
Myo5a A T 9: 75,079,028 (GRCm39) I929F probably damaging Het
Nek6 T A 2: 38,458,907 (GRCm39) Y141N probably damaging Het
Notch4 T A 17: 34,787,396 (GRCm39) C319S probably damaging Het
Nwd2 A T 5: 63,957,525 (GRCm39) D285V probably benign Het
Olfml1 T C 7: 107,189,582 (GRCm39) S216P possibly damaging Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Pfkfb2 G T 1: 130,625,820 (GRCm39) H453Q probably benign Het
Pigt C T 2: 164,343,439 (GRCm39) T305I probably benign Het
Plxnb1 C T 9: 108,929,968 (GRCm39) L275F possibly damaging Het
Ppm1d C T 11: 85,230,431 (GRCm39) R350C probably damaging Het
Prss1l G T 6: 41,372,945 (GRCm39) L72F probably damaging Het
Rassf1 C A 9: 107,429,045 (GRCm39) P84T probably benign Het
Rgl3 G T 9: 21,892,002 (GRCm39) R361S probably benign Het
Rnf213 G A 11: 119,333,533 (GRCm39) R2914H probably damaging Het
Ryr2 A T 13: 11,569,435 (GRCm39) C4956* probably null Het
Scaper C T 9: 55,723,954 (GRCm39) R668H probably damaging Het
Spata6 T C 4: 111,636,203 (GRCm39) F165L probably benign Het
Tcirg1 A T 19: 3,946,845 (GRCm39) W694R probably benign Het
Tmem245 A T 4: 56,906,233 (GRCm39) Y160* probably null Het
Tshr T C 12: 91,500,805 (GRCm39) Y279H probably damaging Het
Ttf1 A C 2: 28,955,150 (GRCm39) K171N probably damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Xdh A G 17: 74,220,896 (GRCm39) V611A probably damaging Het
Zfp142 G T 1: 74,609,263 (GRCm39) H1408N probably damaging 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
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
R2235: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'- TCCGAGCTGCTGGAAGAACTGATG -3'
(R):5'- ACAGTCACAAGTGCCAGTGCAAG -3'

Sequencing Primer
(F):5'- CTTCAGAAGGTGGGTAGCC -3'
(R):5'- TGCCAGTGCAAGACAGG -3'
Posted On 2014-04-13