Incidental Mutation 'IGL02123:E2f2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f2
Ensembl Gene ENSMUSG00000018983
Gene NameE2F transcription factor 2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.484) question?
Stock #IGL02123
Quality Score
Chromosomal Location136172394-136196057 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 136172848 bp
Amino Acid Change Asparagine to Serine at position 23 (N23S)
Ref Sequence ENSEMBL: ENSMUSP00000050047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061721]
Predicted Effect probably benign
Transcript: ENSMUST00000061721
AA Change: N23S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050047
Gene: ENSMUSG00000018983
AA Change: N23S

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T C 7: 28,629,489 T31A probably benign Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ampd3 T C 7: 110,802,559 V429A possibly damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cldn11 C T 3: 31,150,187 T13M probably benign Het
Cngb3 C A 4: 19,367,801 Q237K probably damaging Het
Col12a1 A G 9: 79,662,458 probably null Het
Copa T A 1: 172,112,128 L621H probably damaging Het
Dbn1 T C 13: 55,476,740 D332G possibly damaging Het
Drc1 T C 5: 30,347,104 S197P probably benign Het
Epb41l2 T A 10: 25,460,844 L246H probably damaging Het
Fam13b G A 18: 34,445,618 probably benign Het
Fam184b A G 5: 45,639,151 M30T possibly damaging Het
Fam71d T C 12: 78,734,207 probably null Het
Fn3krp G A 11: 121,429,444 R205H probably benign Het
Fndc11 A G 2: 181,221,650 I83V probably benign Het
Gm3460 C T 14: 6,619,542 R150H probably benign Het
Hs6st1 T A 1: 36,103,871 F296I possibly damaging Het
Igsf10 T A 3: 59,318,660 I2531F probably damaging Het
Klhl40 T C 9: 121,779,923 F385L probably benign Het
Krt83 A T 15: 101,487,585 M302K possibly damaging Het
Lrrc43 A T 5: 123,494,279 I162F probably damaging Het
Map3k21 A G 8: 125,926,110 E325G probably damaging Het
Mpo A T 11: 87,794,795 N33I probably benign Het
Mpp4 A G 1: 59,161,466 probably null Het
Muc5b C T 7: 141,863,757 T3480I possibly damaging Het
Myo6 T C 9: 80,264,272 probably benign Het
Nostrin C T 2: 69,156,109 probably benign Het
Nphp1 T C 2: 127,754,049 M498V probably benign Het
Nr4a2 A T 2: 57,111,655 L199Q possibly damaging Het
Pcdhb6 A T 18: 37,335,820 N598I probably damaging Het
Pex19 T A 1: 172,134,286 M207K probably damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Plekha2 T C 8: 25,042,729 K409E probably damaging Het
Plxna2 T C 1: 194,794,383 L1169P probably damaging Het
Pmpcb A G 5: 21,743,375 probably benign Het
Ptrh1 T C 2: 32,776,814 probably benign Het
Rc3h2 T C 2: 37,398,253 E439G probably damaging Het
Ric1 C T 19: 29,594,800 A665V probably benign Het
Stx18 T A 5: 38,128,103 V219D probably damaging Het
Taf7 A T 18: 37,642,480 probably benign Het
Tbc1d8 A G 1: 39,380,236 S766P probably damaging Het
Tbc1d8 A G 1: 39,376,907 I895T possibly damaging Het
Tekt3 C A 11: 63,083,940 H362N probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tmem94 T C 11: 115,787,538 S196P possibly damaging Het
Vmn2r14 T C 5: 109,220,067 Y353C probably damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vmn2r90 T G 17: 17,733,482 M636R probably benign Het
Vmn2r98 T A 17: 19,080,679 C648S probably damaging Het
Zfpm2 G A 15: 41,102,195 C560Y probably damaging 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
IGL02112:E2f2 APN 4 136192834 missense probably benign 0.08
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
R8247:E2f2 UTSW 4 136172815 missense possibly damaging 0.76
R8261:E2f2 UTSW 4 136184480 synonymous silent
Posted On2015-04-16