Incidental Mutation 'R3969:E2f1'
ID |
310866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
E2f1
|
Ensembl Gene |
ENSMUSG00000027490 |
Gene Name |
E2F transcription factor 1 |
Synonyms |
E2F-1 |
MMRRC Submission |
040937-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.858)
|
Stock # |
R3969 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
154401327-154411812 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 154405942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 144
(G144R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000894]
[ENSMUST00000103145]
|
AlphaFold |
Q61501 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000894
AA Change: G99R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000894 Gene: ENSMUSG00000027490 AA Change: G99R
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 damaging
Transcript: ENSMUST00000103145
AA Change: G144R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099434 Gene: ENSMUSG00000027490 AA Change: G144R
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 |
|
Meta Mutation Damage Score |
0.6284 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (48/48) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
A |
G |
10: 20,835,846 (GRCm39) |
K60E |
probably damaging |
Het |
Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
Camk2d |
G |
T |
3: 126,590,608 (GRCm39) |
C273F |
possibly damaging |
Het |
Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,822,811 (GRCm39) |
I175T |
possibly damaging |
Het |
Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
Faap100 |
A |
T |
11: 120,269,531 (GRCm39) |
M1K |
probably null |
Het |
Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,269,766 (GRCm39) |
S396R |
probably damaging |
Het |
Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
Habp2 |
A |
G |
19: 56,300,133 (GRCm39) |
Y194C |
probably damaging |
Het |
Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
Irf5 |
A |
T |
6: 29,536,781 (GRCm39) |
Q497H |
probably benign |
Het |
Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
Lins1 |
C |
T |
7: 66,357,946 (GRCm39) |
T27I |
probably benign |
Het |
Ncstn |
A |
C |
1: 171,897,576 (GRCm39) |
V439G |
probably damaging |
Het |
Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
Nol8 |
A |
T |
13: 49,813,492 (GRCm39) |
K162* |
probably null |
Het |
Or7g21 |
A |
G |
9: 19,032,956 (GRCm39) |
E232G |
probably benign |
Het |
Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Pole3 |
G |
T |
4: 62,443,198 (GRCm39) |
N12K |
possibly damaging |
Het |
Prl2a1 |
A |
G |
13: 27,990,263 (GRCm39) |
S71G |
probably benign |
Het |
Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,088,738 (GRCm39) |
V496A |
probably benign |
Het |
Slc26a1 |
A |
G |
5: 108,821,818 (GRCm39) |
S24P |
probably benign |
Het |
Tspoap1 |
A |
T |
11: 87,653,272 (GRCm39) |
N113Y |
probably damaging |
Het |
Usp17lc |
A |
T |
7: 103,067,626 (GRCm39) |
H307L |
probably damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,652,801 (GRCm39) |
W498R |
probably damaging |
Het |
Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
Wwc2 |
T |
C |
8: 48,309,358 (GRCm39) |
D808G |
unknown |
Het |
Ybx2 |
G |
A |
11: 69,831,242 (GRCm39) |
R84Q |
probably damaging |
Het |
Zfp462 |
C |
T |
4: 55,012,402 (GRCm39) |
S308F |
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 |
R3844: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 |
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'- TAAGACCTTGGTTTCCCAGCTG -3'
(R):5'- TACATTGCTAGGGAGACAGGC -3'
Sequencing Primer
(F):5'- GCCACTGCAAGCAATTTGG -3'
(R):5'- CTAGGGAGACAGGCCTGTTG -3'
|
Posted On |
2015-04-29 |