Incidental Mutation 'R0948:E2f3'
| ID |
81727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f3
|
| Ensembl Gene |
ENSMUSG00000016477 |
| Gene Name |
E2F transcription factor 3 |
| Synonyms |
E2F3b, E2f3a |
| MMRRC Submission |
039087-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0948 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
30090558-30170046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30169516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 46
(A46T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102948]
[ENSMUST00000221536]
[ENSMUST00000222730]
|
| AlphaFold |
O35261 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102948
AA Change: A46T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100012
Gene: ENSMUSG00000016477
AA Change: A46T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
E2F_TDP
|
170 |
235 |
3.53e-35 |
SMART |
|
Pfam:E2F_CC-MB
|
251 |
344 |
5.1e-38 |
PFAM |
|
low complexity region
|
417 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146092
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222730
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit increased lethality prior to adulthood but otherwise appear normal. Mouse embryonic fibroblast cells from mice homozygous for a null allele are defective in cell cycle progression and exhibit reduced proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
C |
T |
19: 8,867,390 (GRCm39) |
T63M |
probably damaging |
Het |
| Abcb1a |
T |
A |
5: 8,790,621 (GRCm39) |
|
probably null |
Het |
| Ahrr |
T |
C |
13: 74,361,888 (GRCm39) |
D537G |
probably damaging |
Het |
| Anxa4 |
T |
A |
6: 86,718,913 (GRCm39) |
I269F |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,278 (GRCm39) |
Y401C |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,407,258 (GRCm39) |
M1160K |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,177,897 (GRCm39) |
Y434H |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,335,882 (GRCm39) |
A855T |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,010,213 (GRCm39) |
D246G |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,694,847 (GRCm39) |
L840P |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,712,829 (GRCm39) |
D2009E |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,016,334 (GRCm39) |
C635S |
probably damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,435,924 (GRCm39) |
D439G |
probably benign |
Het |
| Hao1 |
A |
C |
2: 134,372,693 (GRCm39) |
M105R |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,525 (GRCm39) |
I552T |
probably damaging |
Het |
| Il31ra |
A |
G |
13: 112,666,912 (GRCm39) |
S470P |
possibly damaging |
Het |
| Mfsd1 |
A |
G |
3: 67,504,067 (GRCm39) |
N353S |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,772,140 (GRCm39) |
F1667I |
possibly damaging |
Het |
| Niban2 |
A |
G |
2: 32,812,872 (GRCm39) |
Y480C |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,964,655 (GRCm39) |
V1413A |
probably damaging |
Het |
| Or8b1 |
T |
G |
9: 38,400,244 (GRCm39) |
S306R |
probably benign |
Het |
| Or8b50 |
G |
A |
9: 38,517,787 (GRCm39) |
V9I |
possibly damaging |
Het |
| Osbpl10 |
T |
A |
9: 114,996,187 (GRCm39) |
V119E |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,089,887 (GRCm39) |
R151L |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
| Rnase4 |
G |
T |
14: 51,342,362 (GRCm39) |
G29C |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,857,423 (GRCm39) |
S391* |
probably null |
Het |
| Sobp |
A |
T |
10: 42,898,205 (GRCm39) |
I460N |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,436,766 (GRCm39) |
D75E |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,571,638 (GRCm39) |
C26* |
probably null |
Het |
| Tacstd2 |
T |
A |
6: 67,512,102 (GRCm39) |
I197L |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,610,416 (GRCm39) |
T295A |
possibly damaging |
Het |
| Txnl1 |
G |
T |
18: 63,825,191 (GRCm39) |
S18R |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,343,550 (GRCm39) |
|
probably benign |
Het |
| Ube2frt |
A |
T |
12: 36,140,934 (GRCm39) |
|
probably benign |
Het |
| Vwce |
A |
G |
19: 10,630,441 (GRCm39) |
Y500C |
probably damaging |
Het |
| Wdr49 |
A |
C |
3: 75,358,158 (GRCm39) |
S196A |
probably benign |
Het |
| Wfs1 |
T |
C |
5: 37,124,905 (GRCm39) |
Y662C |
probably damaging |
Het |
| Wnt8b |
A |
C |
19: 44,498,968 (GRCm39) |
D133A |
possibly damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,756,889 (GRCm39) |
A274E |
probably damaging |
Het |
| Zfp74 |
A |
G |
7: 29,635,362 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in E2f3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:E2f3
|
APN |
13 |
30,102,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00774:E2f3
|
APN |
13 |
30,102,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:E2f3
|
APN |
13 |
30,100,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02669:E2f3
|
APN |
13 |
30,100,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03119:E2f3
|
APN |
13 |
30,169,348 (GRCm39) |
missense |
probably benign |
0.21 |
|
Crumble
|
UTSW |
13 |
30,095,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hillside
|
UTSW |
13 |
30,102,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Slippery
|
UTSW |
13 |
30,102,568 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0830:E2f3
|
UTSW |
13 |
30,169,543 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1442:E2f3
|
UTSW |
13 |
30,102,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:E2f3
|
UTSW |
13 |
30,104,159 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2496:E2f3
|
UTSW |
13 |
30,095,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:E2f3
|
UTSW |
13 |
30,095,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5202:E2f3
|
UTSW |
13 |
30,102,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:E2f3
|
UTSW |
13 |
30,169,250 (GRCm39) |
unclassified |
probably benign |
|
|
R6796:E2f3
|
UTSW |
13 |
30,102,568 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7546:E2f3
|
UTSW |
13 |
30,094,112 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7705:E2f3
|
UTSW |
13 |
30,169,306 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7779:E2f3
|
UTSW |
13 |
30,102,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8354:E2f3
|
UTSW |
13 |
30,169,787 (GRCm39) |
unclassified |
probably benign |
|
|
R8518:E2f3
|
UTSW |
13 |
30,097,453 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8868:E2f3
|
UTSW |
13 |
30,095,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:E2f3
|
UTSW |
13 |
30,097,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:E2f3
|
UTSW |
13 |
30,093,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9272:E2f3
|
UTSW |
13 |
30,102,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:E2f3
|
UTSW |
13 |
30,095,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGAGGGACTCCCCACTGC -3'
(R):5'- GAGACTTGGAAACTCCGGCTGC -3'
Sequencing Primer
(F):5'- CGCTGAGGAGGGTATTACCG -3'
(R):5'- ACTCCGGCTGCAAATAATAAAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation