Incidental Mutation 'IGL01796:E2f2'
ID155363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f2
Ensembl Gene ENSMUSG00000018983
Gene NameE2F transcription factor 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.484) question?
Stock #IGL01796
Quality Score
Status
Chromosome4
Chromosomal Location136172394-136196057 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 136180417 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 142 (K142*)
Ref Sequence ENSEMBL: ENSMUSP00000050047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061721]
Predicted Effect probably null
Transcript: ENSMUST00000061721
AA Change: K142*
SMART Domains Protein: ENSMUSP00000050047
Gene: ENSMUSG00000018983
AA Change: K142*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149750
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,513,209 Y511H probably damaging Het
Abca7 T G 10: 80,013,909 Y1948D probably damaging Het
Adgrl2 C A 3: 148,858,975 G319V probably damaging Het
Adgrv1 T A 13: 81,567,342 D909V probably benign Het
Anapc16 T C 10: 59,988,757 E119G possibly damaging Het
C1qtnf12 T C 4: 155,966,429 V285A possibly damaging Het
Cbr1 A C 16: 93,608,231 N89T probably damaging Het
Cdh23 T A 10: 60,311,137 Q2778L probably benign Het
Clca4c-ps A G 3: 144,889,579 noncoding transcript Het
Cst9 T C 2: 148,835,349 F47L probably damaging Het
Dqx1 T C 6: 83,066,427 probably benign Het
Dus4l T C 12: 31,642,795 S150G probably benign Het
Eif2ak4 T A 2: 118,446,304 H169Q probably benign Het
Fmo9 C T 1: 166,663,335 A525T probably benign Het
Gm42878 T C 5: 121,545,184 D6G probably benign Het
Igfals A G 17: 24,880,082 Y49C probably damaging Het
Iltifb T C 10: 118,290,164 N176S possibly damaging Het
Ipo7 T C 7: 110,029,848 probably benign Het
Itga1 T C 13: 114,985,121 E784G probably damaging Het
Jcad G T 18: 4,672,855 E206* probably null Het
Kif24 A T 4: 41,392,978 probably benign Het
Lrrc2 T A 9: 110,980,818 probably null Het
Ltbp1 A G 17: 75,227,245 probably benign Het
Man2c1 C T 9: 57,137,960 T451I possibly damaging Het
Manba T A 3: 135,542,389 N346K probably damaging Het
Nell1 T C 7: 50,176,216 probably benign Het
Nfat5 T C 8: 107,367,641 V744A probably damaging Het
Nms T C 1: 38,946,111 M98T possibly damaging Het
Nos1 A T 5: 117,938,274 K1120* probably null Het
Olfr741 C A 14: 50,485,541 Q28K probably benign Het
Plekho1 C T 3: 95,990,835 R172H probably damaging Het
Pot1b A T 17: 55,669,750 C391S possibly damaging Het
Scn1a G A 2: 66,332,301 probably benign Het
Sgce T G 6: 4,711,326 N149H probably damaging Het
Slc45a1 A G 4: 150,643,969 W126R probably damaging Het
Slc9a1 G A 4: 133,420,093 probably benign Het
Tmem131l T A 3: 83,938,055 K423* probably null Het
Tnrc18 C T 5: 142,764,887 E1444K possibly damaging Het
Tpp1 T C 7: 105,747,650 probably benign Het
Trip12 A C 1: 84,728,278 S610R probably benign Het
Ushbp1 G T 8: 71,387,432 A525E probably benign Het
Vmn2r106 A T 17: 20,268,052 M695K possibly damaging Het
Vmn2r118 A G 17: 55,608,585 I455T probably benign Het
Zbtb41 T C 1: 139,442,883 F686S probably damaging Het
Other mutations in E2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02078:E2f2 APN 4 136193012 missense probably damaging 1.00
IGL02112:E2f2 APN 4 136192834 missense probably benign 0.08
IGL02123:E2f2 APN 4 136172848 missense probably benign 0.00
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 On2014-02-04