Incidental Mutation 'IGL02112:E2f2'
ID280181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f2
Ensembl Gene ENSMUSG00000018983
Gene NameE2F transcription factor 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.593) question?
Stock #IGL02112
Quality Score
Status
Chromosome4
Chromosomal Location136172394-136196057 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 136192834 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 377 (T377A)
Ref Sequence ENSEMBL: ENSMUSP00000050047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061721]
Predicted Effect probably benign
Transcript: ENSMUST00000061721
AA Change: T377A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000050047
Gene: ENSMUSG00000018983
AA Change: T377A

DomainStartEndE-ValueType
low complexity region 41 54 N/A INTRINSIC
E2F_TDP 131 196 2.93e-32 SMART
Pfam:E2F_CC-MB 212 306 3.1e-38 PFAM
low complexity region 348 376 N/A INTRINSIC
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 and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature death with signs of inflammatory and autoimmune disorders such as increased memory T cells, enlarged spleen, glomerulonephritis, inflammed liver, inflammed lung, increased double stranded DNA antibodies, hair loss, and erythema. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik G T 11: 76,003,388 C197F probably benign Het
Adam34 T A 8: 43,651,138 Y490F possibly damaging Het
Appbp2 A T 11: 85,201,620 H271Q probably benign Het
Arhgap17 A T 7: 123,318,417 D181E possibly damaging Het
Arhgap25 T A 6: 87,467,937 Y286F possibly damaging Het
Atf2 T C 2: 73,819,037 K352R probably damaging Het
Bdp1 G A 13: 100,037,800 T2076I probably benign Het
C1s2 A G 6: 124,625,308 V642A probably benign Het
Cldn18 T A 9: 99,698,075 T170S probably benign Het
Cntnap5c T A 17: 58,313,858 H977Q probably benign Het
Col15a1 T A 4: 47,253,985 probably benign Het
Csmd1 A T 8: 16,081,705 Y1669N probably benign Het
Csmd3 A C 15: 48,313,869 S424R possibly damaging Het
Cyp4a31 A G 4: 115,570,983 D306G probably damaging Het
Dusp27 C A 1: 166,099,671 E791* probably null Het
Edil3 A G 13: 89,180,255 D276G probably damaging Het
Ei24 A T 9: 36,782,342 Y305N probably damaging Het
Erbin T C 13: 103,862,336 N181D probably benign Het
Gli3 A G 13: 15,662,514 Q494R probably damaging Het
Gm16519 T C 17: 70,929,296 I80T probably damaging Het
Haus8 T A 8: 71,255,561 E163V probably damaging Het
Hephl1 G T 9: 15,081,815 probably benign Het
Hnrnph3 A G 10: 63,016,405 probably null Het
Mast2 A T 4: 116,319,764 C437S probably damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Mfge8 A T 7: 79,143,340 V126D probably benign Het
Nrd1 A G 4: 109,027,432 probably benign Het
Olfr77 T A 9: 19,920,525 N105K possibly damaging Het
Panx2 A G 15: 89,069,569 T576A probably benign Het
Per3 T C 4: 151,029,183 Y306C probably benign Het
Ppm1h G A 10: 122,802,400 G192R possibly damaging Het
Prss22 T C 17: 23,993,971 E264G probably damaging Het
Rasa3 A G 8: 13,585,042 probably benign Het
Rpl7a-ps8 C A 7: 19,954,060 probably benign Het
Rundc1 A G 11: 101,433,599 D377G probably benign Het
Sh3bp1 T C 15: 78,905,884 probably null Het
Sobp A G 10: 43,021,877 S571P probably benign Het
Syce1 C A 7: 140,779,632 M114I probably benign Het
Tdrd6 G A 17: 43,629,351 R269W probably damaging Het
Tmprss13 T C 9: 45,339,404 S408P probably damaging Het
Tonsl T C 15: 76,633,402 T706A probably benign Het
Tpcn2 A G 7: 145,256,792 S603P probably benign Het
Trmt12 A T 15: 58,872,816 Q21L probably damaging Het
Vmn1r68 C T 7: 10,527,860 G104S probably damaging Het
Vmn2r82 T C 10: 79,395,999 W611R probably benign Het
Vmn2r90 C A 17: 17,712,203 T124K probably damaging Het
Vmn2r99 A G 17: 19,380,232 E506G probably null Het
Other mutations in E2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:E2f2 APN 4 136180417 nonsense probably null
IGL02078:E2f2 APN 4 136193012 missense probably damaging 1.00
IGL02123:E2f2 APN 4 136172848 missense probably benign 0.00
R0398:E2f2 UTSW 4 136180544 missense probably damaging 1.00
R1594:E2f2 UTSW 4 136186830 missense possibly damaging 0.85
R4729:E2f2 UTSW 4 136184449 missense probably damaging 0.99
R5092:E2f2 UTSW 4 136186937 missense probably benign 0.04
R5184:E2f2 UTSW 4 136184440 missense possibly damaging 0.95
R5462:E2f2 UTSW 4 136172913 missense probably benign 0.06
R5987:E2f2 UTSW 4 136172934 missense probably benign 0.00
R6237:E2f2 UTSW 4 136178485 missense possibly damaging 0.48
R7678:E2f2 UTSW 4 136192826 nonsense probably null
Posted On2015-04-16