Incidental Mutation 'IGL00770:E2f3'
ID277884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f3
Ensembl Gene ENSMUSG00000016477
Gene NameE2F transcription factor 3
SynonymsE2F3b, E2f3a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00770
Quality Score
Status
Chromosome13
Chromosomal Location29906575-29986063 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 29918704 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 68 (D68E)
Ref Sequence ENSEMBL: ENSMUSP00000152368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102948] [ENSMUST00000221536] [ENSMUST00000222730]
Predicted Effect probably damaging
Transcript: ENSMUST00000102948
AA Change: D191E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100012
Gene: ENSMUSG00000016477
AA Change: D191E

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
low complexity region 37 51 N/A INTRINSIC
low complexity region 106 124 N/A INTRINSIC
low complexity region 155 168 N/A INTRINSIC
E2F_TDP 170 235 3.53e-35 SMART
Pfam:E2F_CC-MB 251 344 5.1e-38 PFAM
low complexity region 417 430 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146092
Predicted Effect probably damaging
Transcript: ENSMUST00000221536
AA Change: D74E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222730
AA Change: D68E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit increased lethality prior to adulthood but otherwise appear normal. Mouse embryonic fibroblast cells from mice homozygous for a null allele are defective in cell cycle progression and exhibit reduced proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,388,539 A1397T possibly damaging Het
Aldob A G 4: 49,536,843 S349P probably benign Het
Cd2 A T 3: 101,283,029 probably null Het
Cmtm2a A G 8: 104,292,930 S43P probably damaging Het
Cts6 T C 13: 61,198,339 probably benign Het
Ect2 G A 3: 27,098,443 R869W probably damaging Het
Eml1 A G 12: 108,514,515 probably null Het
Fundc1 T A X: 17,558,013 probably null Het
Gabrb1 G T 5: 72,108,446 probably null Het
Lrrk2 T G 15: 91,801,833 probably benign Het
Map3k2 C T 18: 32,228,239 P584L probably benign Het
Mindy2 T C 9: 70,631,033 D340G probably benign Het
Nav3 T C 10: 109,816,263 D877G probably damaging Het
Nol9 T C 4: 152,052,015 S515P probably benign Het
Osgepl1 A G 1: 53,320,246 I305V probably benign Het
Pign A G 1: 105,597,756 V449A probably benign Het
Rad54b G A 4: 11,593,765 R131K probably benign Het
Rgl3 A T 9: 21,987,722 probably benign Het
Scn2a A G 2: 65,735,853 D1407G probably damaging Het
Sf3b3 A T 8: 110,817,638 I790N probably damaging Het
Srebf1 C T 11: 60,205,139 R358Q probably damaging Het
Tmem18 A G 12: 30,588,721 R133G unknown Het
Tnfrsf11b T G 15: 54,254,072 R262S probably benign Het
Tsc1 A T 2: 28,665,011 H171L probably damaging Het
Ubr5 T C 15: 38,006,541 T1157A probably benign Het
Wdcp A G 12: 4,855,303 E608G probably damaging Het
Other mutations in E2f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00774:E2f3 APN 13 29918704 missense probably damaging 1.00
IGL02541:E2f3 APN 13 29916844 critical splice donor site probably null
IGL02669:E2f3 APN 13 29916991 missense probably benign 0.00
IGL03119:E2f3 APN 13 29985365 missense probably benign 0.21
Hillside UTSW 13 29918669 missense probably damaging 1.00
Slippery UTSW 13 29918585 missense possibly damaging 0.94
R0830:E2f3 UTSW 13 29985560 missense probably benign 0.02
R0948:E2f3 UTSW 13 29985533 missense probably damaging 0.99
R1442:E2f3 UTSW 13 29918669 missense probably damaging 1.00
R1813:E2f3 UTSW 13 29920176 missense probably damaging 0.97
R2496:E2f3 UTSW 13 29911306 missense probably damaging 1.00
R4715:E2f3 UTSW 13 29911275 missense probably damaging 1.00
R5202:E2f3 UTSW 13 29918636 missense probably damaging 1.00
R5902:E2f3 UTSW 13 29985267 unclassified probably benign
R6796:E2f3 UTSW 13 29918585 missense possibly damaging 0.94
R7546:E2f3 UTSW 13 29910129 missense probably damaging 0.98
R7705:E2f3 UTSW 13 29985323 missense probably benign 0.39
R7779:E2f3 UTSW 13 29918615 missense probably damaging 0.99
Posted On2015-04-16