Incidental Mutation 'IGL02078:E2f2'
ID 283368
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 # IGL02078
Quality Score
Status
Chromosome 4
Chromosomal Location 135899705-135923368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135920323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 436 (D436G)
Ref Sequence ENSEMBL: ENSMUSP00000050047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061721]
AlphaFold P56931
Predicted Effect probably damaging
Transcript: ENSMUST00000061721
AA Change: D436G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050047
Gene: ENSMUSG00000018983
AA Change: D436G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,179 (GRCm39) D87G probably benign Het
Acap1 C T 11: 69,786,112 (GRCm39) R18Q probably damaging Het
Atp1a1 A C 3: 101,499,179 (GRCm39) V140G probably damaging Het
Bmpr1b G A 3: 141,576,498 (GRCm39) P112S possibly damaging Het
Chst8 T A 7: 34,374,759 (GRCm39) N360I possibly damaging Het
Cldn23 A T 8: 36,293,359 (GRCm39) V43E possibly damaging Het
Clta T C 4: 44,030,232 (GRCm39) F168S probably damaging Het
Cyp2c40 T C 19: 39,755,926 (GRCm39) I463V probably benign Het
Fbxo24 T G 5: 137,622,611 (GRCm39) T52P probably damaging Het
Gria4 G A 9: 4,793,878 (GRCm39) A60V probably damaging Het
Grm1 C T 10: 10,565,354 (GRCm39) V985M probably benign Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Inf2 T A 12: 112,568,048 (GRCm39) V200E probably damaging Het
Kif20b T A 19: 34,913,044 (GRCm39) V319E probably damaging Het
Klhl10 A G 11: 100,336,577 (GRCm39) D188G probably benign Het
Mobp G A 9: 119,996,980 (GRCm39) R37H probably damaging Het
Mybpc2 T A 7: 44,153,204 (GRCm39) D1086V probably damaging Het
Nadk A C 4: 155,663,860 (GRCm39) probably benign Het
Or7g33 T A 9: 19,448,749 (GRCm39) H159L probably benign Het
Per1 A G 11: 68,995,125 (GRCm39) E619G probably damaging Het
Rab3gap1 G A 1: 127,796,652 (GRCm39) probably benign Het
Rimkla A G 4: 119,325,344 (GRCm39) L355P probably damaging Het
Rnf139 A G 15: 58,771,880 (GRCm39) D635G possibly damaging Het
Sall1 T A 8: 89,757,003 (GRCm39) N1034Y probably damaging Het
Serpinb13 A T 1: 106,926,688 (GRCm39) Q228L probably damaging Het
Sin3b G T 8: 73,480,208 (GRCm39) M903I possibly damaging Het
Slco1a5 A T 6: 142,200,172 (GRCm39) M204K probably benign Het
Smo A G 6: 29,754,707 (GRCm39) D259G possibly damaging Het
Spata31g1 A C 4: 42,972,685 (GRCm39) K673Q possibly damaging Het
Sult2a4 T C 7: 13,723,469 (GRCm39) I15M probably benign Het
Ttn T A 2: 76,772,785 (GRCm39) probably null Het
Wdtc1 C A 4: 133,033,271 (GRCm39) D176Y probably damaging Het
Other mutations in E2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:E2f2 APN 4 135,907,728 (GRCm39) nonsense probably null
IGL02112:E2f2 APN 4 135,920,145 (GRCm39) missense probably benign 0.08
IGL02123:E2f2 APN 4 135,900,159 (GRCm39) missense probably benign 0.00
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