Incidental Mutation 'R3844:E2f1'
| ID |
277266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f1
|
| Ensembl Gene |
ENSMUSG00000027490 |
| Gene Name |
E2F transcription factor 1 |
| Synonyms |
E2F-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.858)
|
| Stock # |
R3844 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154401327-154411812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154402748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 340
(S340P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000894]
[ENSMUST00000000895]
[ENSMUST00000103145]
[ENSMUST00000109716]
[ENSMUST00000125793]
|
| AlphaFold |
Q61501 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000894
AA Change: S340P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000000894
Gene: ENSMUSG00000027490
AA Change: S340P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:E2F_TDP
|
77 |
142 |
1.1e-25 |
PFAM |
|
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
295 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000895
|
| SMART Domains |
Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_1
|
31 |
58 |
7.3e-8 |
PFAM |
|
Pfam:EF-hand_5
|
32 |
57 |
4.6e-9 |
PFAM |
|
low complexity region
|
180 |
203 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
237 |
N/A |
INTRINSIC |
|
Pfam:ABM
|
252 |
327 |
4.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103145
AA Change: S385P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099434
Gene: ENSMUSG00000027490
AA Change: S385P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
82 |
N/A |
INTRINSIC |
|
E2F_TDP
|
122 |
187 |
1.63e-30 |
SMART |
|
Pfam:E2F_CC-MB
|
201 |
294 |
2.2e-37 |
PFAM |
|
low complexity region
|
318 |
340 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109716
|
| SMART Domains |
Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_1
|
31 |
59 |
6.9e-8 |
PFAM |
|
Pfam:EF-hand_5
|
32 |
57 |
1.7e-9 |
PFAM |
|
low complexity region
|
180 |
203 |
N/A |
INTRINSIC |
|
Pfam:ABM
|
232 |
303 |
2.7e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124382
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125793
|
| SMART Domains |
Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
146 |
168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149725
|
| Meta Mutation Damage Score |
0.0713 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| 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, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show defective T lymphocyte development, impaired pancreatic growth and beta cell function, altered glucose homeostasis, testicular atrophy, salivary gland and adipose tissue defects, and increased tumor induction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
T |
11: 6,150,032 (GRCm39) |
R2* |
probably null |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam5 |
T |
A |
8: 25,303,426 (GRCm39) |
D167V |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,387,046 (GRCm39) |
E50V |
probably damaging |
Het |
| Arid4b |
C |
T |
13: 14,361,645 (GRCm39) |
S703L |
probably damaging |
Het |
| Ccl25 |
T |
G |
8: 4,404,183 (GRCm39) |
V179G |
possibly damaging |
Het |
| Clk2 |
A |
G |
3: 89,077,710 (GRCm39) |
N222S |
probably benign |
Het |
| Col13a1 |
C |
T |
10: 61,685,988 (GRCm39) |
G668D |
unknown |
Het |
| Col20a1 |
A |
G |
2: 180,634,242 (GRCm39) |
E69G |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,959,257 (GRCm39) |
H172Y |
probably benign |
Het |
| Dock8 |
T |
G |
19: 25,042,794 (GRCm39) |
Y125* |
probably null |
Het |
| Fars2 |
T |
C |
13: 36,389,084 (GRCm39) |
F191S |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,392,790 (GRCm39) |
V888A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,648,733 (GRCm39) |
H1392L |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,819,950 (GRCm39) |
H5228Y |
possibly damaging |
Het |
| Galnt14 |
A |
G |
17: 74,016,924 (GRCm39) |
|
probably null |
Het |
| Grm8 |
A |
T |
6: 27,429,507 (GRCm39) |
N462K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,789 (GRCm39) |
E410G |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,158,513 (GRCm39) |
I77F |
probably damaging |
Het |
| Klhl11 |
A |
T |
11: 100,363,133 (GRCm39) |
M141K |
possibly damaging |
Het |
| Lactbl1 |
A |
G |
4: 136,365,271 (GRCm39) |
H541R |
possibly damaging |
Het |
| Mylk |
A |
G |
16: 34,742,247 (GRCm39) |
M920V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,233 (GRCm39) |
T124A |
possibly damaging |
Het |
| Piwil4 |
T |
A |
9: 14,641,256 (GRCm39) |
T179S |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,313,717 (GRCm39) |
L1479P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,952,916 (GRCm39) |
H292R |
probably benign |
Het |
| Rps6ka4 |
C |
A |
19: 6,815,171 (GRCm39) |
E202* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,867,107 (GRCm39) |
D13G |
possibly damaging |
Het |
| Sri |
A |
G |
5: 8,114,576 (GRCm39) |
D177G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,938,365 (GRCm39) |
V1437A |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,471,926 (GRCm39) |
R523G |
probably damaging |
Het |
| Tm9sf3 |
A |
T |
19: 41,205,555 (GRCm39) |
L561M |
possibly damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,646,309 (GRCm39) |
D1417Y |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,186,437 (GRCm39) |
S648L |
probably damaging |
Het |
| Zfp827 |
T |
A |
8: 79,863,248 (GRCm39) |
L69Q |
probably damaging |
Het |
|
| Other mutations in E2f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0666:E2f1
|
UTSW |
2 |
154,402,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0674:E2f1
|
UTSW |
2 |
154,406,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:E2f1
|
UTSW |
2 |
154,402,849 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3747:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3752:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3753:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3843:E2f1
|
UTSW |
2 |
154,402,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3968:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3969:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3970:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:E2f1
|
UTSW |
2 |
154,405,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:E2f1
|
UTSW |
2 |
154,406,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5666:E2f1
|
UTSW |
2 |
154,411,101 (GRCm39) |
intron |
probably benign |
|
|
R6368:E2f1
|
UTSW |
2 |
154,406,396 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9348:E2f1
|
UTSW |
2 |
154,402,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACACCCTGAATCCCTAGG -3'
(R):5'- TCCCAGTCAATCCCTGTTGG -3'
Sequencing Primer
(F):5'- CTAGGCTTCTGTCAGAAATCCAGAG -3'
(R):5'- AGTATTTGGCAGGCACTCATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation