Incidental Mutation 'IGL01107:E2f4'
ID 51777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f4
Ensembl Gene ENSMUSG00000014859
Gene Name E2F transcription factor 4
Synonyms 2010111M04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01107
Quality Score
Status
Chromosome 8
Chromosomal Location 106024295-106032002 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 106030809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000109375] [ENSMUST00000212033] [ENSMUST00000212046]
AlphaFold Q8R0K9
Predicted Effect probably benign
Transcript: ENSMUST00000015003
SMART Domains Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859

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: ENSMUST00000212572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212345
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,687,948 (GRCm39) F215Y probably damaging Het
2700049A03Rik T C 12: 71,241,242 (GRCm39) probably null Het
Akip1 C T 7: 109,311,045 (GRCm39) T195M probably damaging Het
Arhgef16 T C 4: 154,364,701 (GRCm39) N631S probably benign Het
Brat1 C T 5: 140,702,932 (GRCm39) S544L probably damaging Het
Cfap65 C T 1: 74,958,342 (GRCm39) probably null Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Dnajc4 C T 19: 6,966,869 (GRCm39) R153H probably benign Het
Dusp11 A G 6: 85,929,352 (GRCm39) probably benign Het
Ece1 T A 4: 137,665,969 (GRCm39) L271Q probably damaging Het
Fcgrt T C 7: 44,742,752 (GRCm39) D343G probably damaging Het
Igsf10 T C 3: 59,238,945 (GRCm39) E412G probably damaging Het
Il4ra G T 7: 125,175,086 (GRCm39) L431F possibly damaging Het
Ilrun A T 17: 28,005,043 (GRCm39) probably null Het
Krt86 T A 15: 101,373,306 (GRCm39) L200Q probably damaging Het
Lpcat1 T A 13: 73,642,947 (GRCm39) F126I probably damaging Het
Prag1 A G 8: 36,567,085 (GRCm39) T79A probably benign Het
Pramel13 A T 4: 144,119,664 (GRCm39) I301N probably benign Het
Psg29 G T 7: 16,938,850 (GRCm39) L41F probably benign Het
Rai14 C T 15: 10,599,797 (GRCm39) probably benign Het
Reg3a A G 6: 78,360,228 (GRCm39) D136G probably benign Het
Rif1 A G 2: 52,001,315 (GRCm39) T1590A probably benign Het
Rorb A T 19: 18,934,692 (GRCm39) L300* probably null Het
Sin3b T C 8: 73,457,733 (GRCm39) C150R possibly damaging Het
Smarcc1 C A 9: 110,051,005 (GRCm39) H942N probably damaging Het
Tas2r105 A G 6: 131,664,074 (GRCm39) V118A probably benign Het
Tmem131 T C 1: 36,868,662 (GRCm39) S388G probably damaging Het
Ttll9 C A 2: 152,844,809 (GRCm39) probably benign Het
Ush1c A G 7: 45,859,325 (GRCm39) L498P probably damaging Het
Vmn2r100 A G 17: 19,741,618 (GRCm39) Y110C probably damaging Het
Zbtb11 T C 16: 55,826,370 (GRCm39) Y800H probably damaging Het
Zdhhc20 T A 14: 58,103,046 (GRCm39) E101V probably damaging Het
Other mutations in E2f4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21