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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |