Incidental Mutation 'R5462:E2f2'
| ID |
433059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f2
|
| Ensembl Gene |
ENSMUSG00000018983 |
| Gene Name |
E2F transcription factor 2 |
| Synonyms |
|
| MMRRC Submission |
043024-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.440)
|
| Stock # |
R5462 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135899705-135923368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135900224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 45
(T45S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061721]
|
| AlphaFold |
P56931 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061721
AA Change: T45S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000050047
Gene: ENSMUSG00000018983
AA Change: T45S
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
| 4933412E24Rik |
A |
G |
15: 59,886,917 (GRCm39) |
F508L |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Amz1 |
A |
G |
5: 140,733,976 (GRCm39) |
Y184C |
probably damaging |
Het |
| Calm3 |
A |
T |
7: 16,651,619 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cep112 |
T |
A |
11: 108,409,570 (GRCm39) |
N479K |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,436,695 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
C |
8: 16,011,486 (GRCm39) |
N2522K |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,930,042 (GRCm39) |
L18P |
probably damaging |
Het |
| Grk3 |
T |
C |
5: 113,117,074 (GRCm39) |
Y67C |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,042,851 (GRCm39) |
C2290* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,233,175 (GRCm39) |
T1853A |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,164,655 (GRCm39) |
L1587P |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,720,897 (GRCm39) |
N2337D |
probably benign |
Het |
| Mettl3 |
T |
C |
14: 52,537,336 (GRCm39) |
Q182R |
probably damaging |
Het |
| Mterf1b |
A |
G |
5: 4,246,541 (GRCm39) |
S61G |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,437,562 (GRCm39) |
Y2100C |
probably damaging |
Het |
| Nt5m |
T |
A |
11: 59,765,385 (GRCm39) |
W138R |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,640 (GRCm39) |
Y252C |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,486,728 (GRCm39) |
Y114H |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,453,971 (GRCm39) |
S322T |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,857,171 (GRCm39) |
D373E |
probably damaging |
Het |
| Snx29 |
A |
T |
16: 11,328,876 (GRCm39) |
M552L |
possibly damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,050,520 (GRCm39) |
F2356L |
possibly damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,238,052 (GRCm39) |
Q241K |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,045 (GRCm39) |
I56T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,238 (GRCm39) |
Y753C |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,220,973 (GRCm39) |
W297R |
probably damaging |
Het |
| Zbtb47 |
G |
T |
9: 121,596,729 (GRCm39) |
R695L |
probably damaging |
Het |
| Zfp267 |
C |
T |
3: 36,219,969 (GRCm39) |
T664I |
possibly 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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCCGAGTGGCGATCTCC -3'
(R):5'- CCAGCTGTAATCAAGCCGTAG -3'
Sequencing Primer
(F):5'- AGTGGCGATCTCCGAGCTC -3'
(R):5'- GCGTCCCAAGCACCCTCTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation