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]
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Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
C |
5: 125,590,273 (GRCm39) |
Y511H |
probably damaging |
Het |
Abca7 |
T |
G |
10: 79,849,743 (GRCm39) |
Y1948D |
probably damaging |
Het |
Adgrl2 |
C |
A |
3: 148,564,611 (GRCm39) |
G319V |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,715,461 (GRCm39) |
D909V |
probably benign |
Het |
Anapc16 |
T |
C |
10: 59,824,579 (GRCm39) |
E119G |
possibly damaging |
Het |
C1qtnf12 |
T |
C |
4: 156,050,886 (GRCm39) |
V285A |
possibly damaging |
Het |
Cbr1 |
A |
C |
16: 93,405,119 (GRCm39) |
N89T |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,146,916 (GRCm39) |
Q2778L |
probably benign |
Het |
Clca4c-ps |
A |
G |
3: 144,595,340 (GRCm39) |
|
noncoding transcript |
Het |
Cst9 |
T |
C |
2: 148,677,269 (GRCm39) |
F47L |
probably damaging |
Het |
Dqx1 |
T |
C |
6: 83,043,408 (GRCm39) |
|
probably benign |
Het |
Dus4l |
T |
C |
12: 31,692,794 (GRCm39) |
S150G |
probably benign |
Het |
Eif2ak4 |
T |
A |
2: 118,276,785 (GRCm39) |
H169Q |
probably benign |
Het |
Fmo9 |
C |
T |
1: 166,490,904 (GRCm39) |
A525T |
probably benign |
Het |
Gm42878 |
T |
C |
5: 121,683,247 (GRCm39) |
D6G |
probably benign |
Het |
Igfals |
A |
G |
17: 25,099,056 (GRCm39) |
Y49C |
probably damaging |
Het |
Il22b |
T |
C |
10: 118,126,069 (GRCm39) |
N176S |
possibly damaging |
Het |
Ipo7 |
T |
C |
7: 109,629,055 (GRCm39) |
|
probably benign |
Het |
Itga1 |
T |
C |
13: 115,121,657 (GRCm39) |
E784G |
probably damaging |
Het |
Jcad |
G |
T |
18: 4,672,855 (GRCm39) |
E206* |
probably null |
Het |
Kif24 |
A |
T |
4: 41,392,978 (GRCm39) |
|
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,809,886 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
A |
G |
17: 75,534,240 (GRCm39) |
|
probably benign |
Het |
Man2c1 |
C |
T |
9: 57,045,244 (GRCm39) |
T451I |
possibly damaging |
Het |
Manba |
T |
A |
3: 135,248,150 (GRCm39) |
N346K |
probably damaging |
Het |
Nell1 |
T |
C |
7: 49,825,964 (GRCm39) |
|
probably benign |
Het |
Nfat5 |
T |
C |
8: 108,094,273 (GRCm39) |
V744A |
probably damaging |
Het |
Nms |
T |
C |
1: 38,985,192 (GRCm39) |
M98T |
possibly damaging |
Het |
Nos1 |
A |
T |
5: 118,076,339 (GRCm39) |
K1120* |
probably null |
Het |
Or11g25 |
C |
A |
14: 50,722,998 (GRCm39) |
Q28K |
probably benign |
Het |
Plekho1 |
C |
T |
3: 95,898,147 (GRCm39) |
R172H |
probably damaging |
Het |
Pot1b |
A |
T |
17: 55,976,750 (GRCm39) |
C391S |
possibly damaging |
Het |
Scn1a |
G |
A |
2: 66,162,645 (GRCm39) |
|
probably benign |
Het |
Sgce |
T |
G |
6: 4,711,326 (GRCm39) |
N149H |
probably damaging |
Het |
Slc45a1 |
A |
G |
4: 150,728,426 (GRCm39) |
W126R |
probably damaging |
Het |
Slc9a1 |
G |
A |
4: 133,147,404 (GRCm39) |
|
probably benign |
Het |
Tmem131l |
T |
A |
3: 83,845,362 (GRCm39) |
K423* |
probably null |
Het |
Tnrc18 |
C |
T |
5: 142,750,642 (GRCm39) |
E1444K |
possibly damaging |
Het |
Tpp1 |
T |
C |
7: 105,396,857 (GRCm39) |
|
probably benign |
Het |
Trip12 |
A |
C |
1: 84,705,999 (GRCm39) |
S610R |
probably benign |
Het |
Ushbp1 |
G |
T |
8: 71,840,076 (GRCm39) |
A525E |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,488,314 (GRCm39) |
M695K |
possibly damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,915,585 (GRCm39) |
I455T |
probably benign |
Het |
Zbtb41 |
T |
C |
1: 139,370,621 (GRCm39) |
F686S |
probably damaging |
Het |
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Other mutations in E2f2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
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