Incidental Mutation 'IGL02123:E2f2'
ID 280726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f2
Ensembl Gene ENSMUSG00000018983
Gene Name E2F transcription factor 2
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.405) question?
Stock # IGL02123
Quality Score
Status
Chromosome 4
Chromosomal Location 135899705-135923368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135900159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 23 (N23S)
Ref Sequence ENSEMBL: ENSMUSP00000050047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061721]
AlphaFold P56931
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

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T C 7: 28,328,914 (GRCm39) T31A probably benign Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ampd3 T C 7: 110,401,766 (GRCm39) V429A possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cldn11 C T 3: 31,204,336 (GRCm39) T13M probably benign Het
Cngb3 C A 4: 19,367,801 (GRCm39) Q237K probably damaging Het
Col12a1 A G 9: 79,569,740 (GRCm39) probably null Het
Copa T A 1: 171,939,695 (GRCm39) L621H probably damaging Het
Dbn1 T C 13: 55,624,553 (GRCm39) D332G possibly damaging Het
Drc1 T C 5: 30,504,448 (GRCm39) S197P probably benign Het
Epb41l2 T A 10: 25,336,742 (GRCm39) L246H probably damaging Het
Fam13b G A 18: 34,578,671 (GRCm39) probably benign Het
Fam184b A G 5: 45,796,493 (GRCm39) M30T possibly damaging Het
Fn3krp G A 11: 121,320,270 (GRCm39) R205H probably benign Het
Fndc11 A G 2: 180,863,443 (GRCm39) I83V probably benign Het
Garin2 T C 12: 78,780,981 (GRCm39) probably null Het
Gm3629 C T 14: 17,834,541 (GRCm39) R150H probably benign Het
Hs6st1 T A 1: 36,142,952 (GRCm39) F296I possibly damaging Het
Igsf10 T A 3: 59,226,081 (GRCm39) I2531F probably damaging Het
Klhl40 T C 9: 121,608,989 (GRCm39) F385L probably benign Het
Krt87 A T 15: 101,385,466 (GRCm39) M302K possibly damaging Het
Lrrc43 A T 5: 123,632,342 (GRCm39) I162F probably damaging Het
Map3k21 A G 8: 126,652,849 (GRCm39) E325G probably damaging Het
Mpo A T 11: 87,685,621 (GRCm39) N33I probably benign Het
Mpp4 A G 1: 59,200,625 (GRCm39) probably null Het
Muc5b C T 7: 141,417,494 (GRCm39) T3480I possibly damaging Het
Myo6 T C 9: 80,171,554 (GRCm39) probably benign Het
Nostrin C T 2: 68,986,453 (GRCm39) probably benign Het
Nphp1 T C 2: 127,595,969 (GRCm39) M498V probably benign Het
Nr4a2 A T 2: 57,001,667 (GRCm39) L199Q possibly damaging Het
Pcdhb6 A T 18: 37,468,873 (GRCm39) N598I probably damaging Het
Pex19 T A 1: 171,961,853 (GRCm39) M207K probably damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Plekha2 T C 8: 25,532,745 (GRCm39) K409E probably damaging Het
Plxna2 T C 1: 194,476,691 (GRCm39) L1169P probably damaging Het
Pmpcb A G 5: 21,948,373 (GRCm39) probably benign Het
Ptrh1 T C 2: 32,666,826 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,288,265 (GRCm39) E439G probably damaging Het
Ric1 C T 19: 29,572,200 (GRCm39) A665V probably benign Het
Stx18 T A 5: 38,285,447 (GRCm39) V219D probably damaging Het
Taf7 A T 18: 37,775,533 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,415,988 (GRCm39) I895T possibly damaging Het
Tbc1d8 A G 1: 39,419,317 (GRCm39) S766P probably damaging Het
Tekt3 C A 11: 62,974,766 (GRCm39) H362N probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tmem94 T C 11: 115,678,364 (GRCm39) S196P possibly damaging Het
Vmn2r14 T C 5: 109,367,933 (GRCm39) Y353C probably damaging Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vmn2r90 T G 17: 17,953,744 (GRCm39) M636R probably benign Het
Vmn2r98 T A 17: 19,300,941 (GRCm39) C648S probably damaging Het
Zfpm2 G A 15: 40,965,591 (GRCm39) C560Y probably damaging Het
Other mutations in E2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:E2f2 APN 4 135,907,728 (GRCm39) nonsense probably null
IGL02078:E2f2 APN 4 135,920,323 (GRCm39) missense probably damaging 1.00
IGL02112:E2f2 APN 4 135,920,145 (GRCm39) missense probably benign 0.08
R0398:E2f2 UTSW 4 135,907,855 (GRCm39) missense probably damaging 1.00
R1594:E2f2 UTSW 4 135,914,141 (GRCm39) missense possibly damaging 0.85
R4729:E2f2 UTSW 4 135,911,760 (GRCm39) missense probably damaging 0.99
R5092:E2f2 UTSW 4 135,914,248 (GRCm39) missense probably benign 0.04
R5184:E2f2 UTSW 4 135,911,751 (GRCm39) missense possibly damaging 0.95
R5462:E2f2 UTSW 4 135,900,224 (GRCm39) missense probably benign 0.06
R5987:E2f2 UTSW 4 135,900,245 (GRCm39) missense probably benign 0.00
R6237:E2f2 UTSW 4 135,905,796 (GRCm39) missense possibly damaging 0.48
R7678:E2f2 UTSW 4 135,920,137 (GRCm39) nonsense probably null
R8247:E2f2 UTSW 4 135,900,126 (GRCm39) missense possibly damaging 0.76
R8261:E2f2 UTSW 4 135,911,791 (GRCm39) synonymous silent
R9147:E2f2 UTSW 4 135,908,595 (GRCm39) critical splice acceptor site probably null
R9148:E2f2 UTSW 4 135,908,595 (GRCm39) critical splice acceptor site probably null
R9606:E2f2 UTSW 4 135,911,743 (GRCm39) nonsense probably null
Posted On 2015-04-16