Incidental Mutation 'IGL03119:E2f3'
ID 409914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f3
Ensembl Gene ENSMUSG00000016477
Gene Name E2F transcription factor 3
Synonyms E2F3b, E2f3a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03119
Quality Score
Status
Chromosome 13
Chromosomal Location 29906575-29986063 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29985365 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 102 (S102P)
Ref Sequence ENSEMBL: ENSMUSP00000100012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102948] [ENSMUST00000221536] [ENSMUST00000222730]
AlphaFold O35261
Predicted Effect probably benign
Transcript: ENSMUST00000102948
AA Change: S102P

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100012
Gene: ENSMUSG00000016477
AA Change: S102P

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 benign
Transcript: ENSMUST00000221536
Predicted Effect probably benign
Transcript: ENSMUST00000222730
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,714,887 T626A probably benign Het
Adcy1 C T 11: 7,109,051 T319I probably damaging Het
Adgrv1 A G 13: 81,382,373 S5861P probably damaging Het
Adgrv1 A C 13: 81,433,700 C4742G probably benign Het
Arid5b A T 10: 68,243,227 D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 T121A probably benign Het
Atxn7 C T 14: 14,100,734 L807F probably damaging Het
Cep104 A C 4: 153,981,724 K126N probably damaging Het
Dcaf6 T C 1: 165,339,976 E708G probably damaging Het
Dst A G 1: 34,161,062 Y107C probably damaging Het
Eif3e A C 15: 43,265,604 S207A probably benign Het
Etl4 A G 2: 20,713,387 Y313C probably damaging Het
Fyttd1 T C 16: 32,900,695 V121A probably benign Het
Gstk1 T C 6: 42,249,899 S200P probably damaging Het
Ifrd1 A T 12: 40,212,334 F244L probably null Het
Ints7 T C 1: 191,610,365 V491A probably damaging Het
Kcnd2 G T 6: 21,216,509 E71* probably null Het
Ltbp3 A T 19: 5,757,443 Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 T961A probably benign Het
Naa25 T A 5: 121,434,978 V720E probably null Het
Olfr1480 T C 19: 13,530,435 I298T probably benign Het
Olfr599 A G 7: 103,338,722 I223V probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Peli1 T C 11: 21,140,560 probably benign Het
Ptbp1 T C 10: 79,859,624 V209A probably damaging Het
Ranbp2 A G 10: 58,452,003 Y31C probably damaging Het
Smg1 G A 7: 118,195,113 probably benign Het
Stat2 A G 10: 128,283,517 M457V probably benign Het
Trpm6 G T 19: 18,838,017 E1156* probably null Het
Usp53 T A 3: 122,961,415 R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 S193P probably benign Het
Xrn2 A G 2: 147,042,872 I626V probably damaging Het
Zfp574 G A 7: 25,080,473 A307T probably benign Het
Other mutations in E2f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:E2f3 APN 13 29918704 missense probably damaging 1.00
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
Crumble UTSW 13 29911318 missense probably damaging 1.00
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
R8354:E2f3 UTSW 13 29985804 unclassified probably benign
R8518:E2f3 UTSW 13 29913470 missense probably damaging 0.98
R8868:E2f3 UTSW 13 29911318 missense probably damaging 1.00
R9017:E2f3 UTSW 13 29913495 missense probably damaging 1.00
R9041:E2f3 UTSW 13 29909956 missense probably damaging 0.97
R9272:E2f3 UTSW 13 29918646 missense probably damaging 1.00
R9336:E2f3 UTSW 13 29911256 missense possibly damaging 0.87
Posted On 2016-08-02