Incidental Mutation 'R5543:E4f1'
| ID |
436129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E4f1
|
| Ensembl Gene |
ENSMUSG00000024137 |
| Gene Name |
E4F transcription factor 1 |
| Synonyms |
|
| MMRRC Submission |
043101-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5543 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24662752-24674366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24666336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 24
(V24A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056032]
[ENSMUST00000088506]
[ENSMUST00000119932]
[ENSMUST00000148820]
[ENSMUST00000154675]
[ENSMUST00000226654]
[ENSMUST00000226754]
[ENSMUST00000226941]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056032
AA Change: V183A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
AA Change: V183A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
35 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
57 |
82 |
3.95e1 |
SMART |
|
low complexity region
|
84 |
99 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
193 |
215 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
249 |
269 |
5.62e0 |
SMART |
|
low complexity region
|
295 |
311 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
433 |
455 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
489 |
511 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
517 |
539 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
573 |
593 |
2.06e1 |
SMART |
|
low complexity region
|
599 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088506
|
| SMART Domains |
Protein: ENSMUSP00000085862
Gene: ENSMUSG00000024136
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
5 |
276 |
4.18e-185 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119932
|
| SMART Domains |
Protein: ENSMUSP00000113508
Gene: ENSMUSG00000024136
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
5 |
276 |
4.18e-185 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148820
|
| SMART Domains |
Protein: ENSMUSP00000119453
Gene: ENSMUSG00000024136
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DNaseIc
|
5 |
60 |
2e-33 |
BLAST |
|
PDB:4AWN|A
|
22 |
60 |
5e-8 |
PDB |
|
SCOP:d2dnja_
|
22 |
60 |
3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154675
|
| SMART Domains |
Protein: ENSMUSP00000116743
Gene: ENSMUSG00000024136
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
1 |
180 |
4.58e-86 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226654
AA Change: V24A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226754
AA Change: V183A
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226941
AA Change: V183A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228882
AA Change: V105A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227241
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the GLI-Kruppel zinc finger family. The encoded protein is likely to be multi-functional, with both adenovirus E1A-regulated transcription factor and ubiquitin E3 ligase activities, including roles in cell cycle regulation and the ubiquitination of p53. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice display early embryonic lethality with mitotic progression failure and increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
C |
A |
7: 127,836,353 (GRCm39) |
S80I |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,959,627 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
A |
G |
7: 45,638,960 (GRCm39) |
|
probably null |
Het |
| Acvr1 |
A |
G |
2: 58,353,157 (GRCm39) |
S268P |
probably damaging |
Het |
| Apod |
T |
C |
16: 31,122,351 (GRCm39) |
|
probably null |
Het |
| Atp5po |
T |
C |
16: 91,723,418 (GRCm39) |
I58V |
probably benign |
Het |
| AU040320 |
C |
T |
4: 126,735,017 (GRCm39) |
T777M |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,194,026 (GRCm39) |
N89I |
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,457,407 (GRCm39) |
T1151K |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,543,228 (GRCm39) |
V2314A |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,595,808 (GRCm39) |
S1881P |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,882,451 (GRCm39) |
D236V |
probably damaging |
Het |
| Fam240b |
T |
A |
13: 64,633,736 (GRCm39) |
I27F |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,476,516 (GRCm39) |
I1854N |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,920,906 (GRCm39) |
Y480H |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,676,394 (GRCm39) |
N47S |
probably benign |
Het |
| Gabrr3 |
T |
C |
16: 59,253,870 (GRCm39) |
S196P |
probably damaging |
Het |
| Gbp8 |
T |
A |
5: 105,165,696 (GRCm39) |
D319V |
possibly damaging |
Het |
| Hrh3 |
G |
T |
2: 179,745,763 (GRCm39) |
A61E |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,818,095 (GRCm39) |
I89T |
probably benign |
Het |
| Ifitm3 |
T |
A |
7: 140,589,730 (GRCm39) |
I108F |
unknown |
Het |
| Izumo4 |
T |
C |
10: 80,538,668 (GRCm39) |
F40S |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,551,242 (GRCm39) |
R679G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Ldha |
A |
T |
7: 46,500,314 (GRCm39) |
I171F |
possibly damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,662,191 (GRCm39) |
S609G |
probably benign |
Het |
| Mmp15 |
T |
C |
8: 96,094,729 (GRCm39) |
F201S |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,969,778 (GRCm39) |
V295I |
probably benign |
Het |
| Or1n2 |
C |
T |
2: 36,797,369 (GRCm39) |
T137I |
possibly damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,993 (GRCm39) |
M261L |
probably damaging |
Het |
| Or5m12 |
G |
T |
2: 85,734,672 (GRCm39) |
A242D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,655,137 (GRCm39) |
D1778G |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,247,886 (GRCm39) |
D969E |
probably benign |
Het |
| Pibf1 |
A |
T |
14: 99,350,428 (GRCm39) |
N192I |
probably benign |
Het |
| Pitpnm3 |
A |
G |
11: 71,947,023 (GRCm39) |
F792S |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,637,199 (GRCm39) |
I604N |
probably damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,887,775 (GRCm39) |
Y188H |
probably damaging |
Het |
| Plxnc1 |
G |
T |
10: 94,700,636 (GRCm39) |
D643E |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,501,080 (GRCm39) |
P1241L |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,977,990 (GRCm39) |
E173G |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,416,557 (GRCm39) |
V232A |
probably damaging |
Het |
| Shbg |
A |
G |
11: 69,507,564 (GRCm39) |
I171T |
probably damaging |
Het |
| Slc22a14 |
A |
T |
9: 119,002,674 (GRCm39) |
F404L |
probably benign |
Het |
| Slc37a3 |
C |
A |
6: 39,331,960 (GRCm39) |
G158C |
probably damaging |
Het |
| Slfn9 |
C |
A |
11: 82,873,207 (GRCm39) |
L565F |
probably damaging |
Het |
| Spmip10 |
G |
A |
18: 56,727,760 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,195,180 (GRCm39) |
M1068K |
probably damaging |
Het |
| Trbv15 |
A |
T |
6: 41,118,187 (GRCm39) |
I15L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,569,918 (GRCm39) |
V26992M |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b34 |
T |
A |
5: 87,054,560 (GRCm39) |
I74F |
probably damaging |
Het |
| Vamp3 |
A |
G |
4: 151,135,477 (GRCm39) |
L47P |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,682,522 (GRCm39) |
C363* |
probably null |
Het |
| Zfp438 |
T |
C |
18: 5,213,761 (GRCm39) |
E399G |
probably damaging |
Het |
|
| Other mutations in E4f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:E4f1
|
APN |
17 |
24,663,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02306:E4f1
|
APN |
17 |
24,665,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03219:E4f1
|
APN |
17 |
24,664,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
FR4342:E4f1
|
UTSW |
17 |
24,674,171 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:E4f1
|
UTSW |
17 |
24,674,166 (GRCm39) |
unclassified |
probably benign |
|
|
R0084:E4f1
|
UTSW |
17 |
24,663,056 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0179:E4f1
|
UTSW |
17 |
24,670,411 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1171:E4f1
|
UTSW |
17 |
24,670,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:E4f1
|
UTSW |
17 |
24,665,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4531:E4f1
|
UTSW |
17 |
24,664,961 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5243:E4f1
|
UTSW |
17 |
24,666,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5430:E4f1
|
UTSW |
17 |
24,663,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5598:E4f1
|
UTSW |
17 |
24,666,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:E4f1
|
UTSW |
17 |
24,663,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:E4f1
|
UTSW |
17 |
24,664,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:E4f1
|
UTSW |
17 |
24,663,556 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6703:E4f1
|
UTSW |
17 |
24,666,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:E4f1
|
UTSW |
17 |
24,663,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7122:E4f1
|
UTSW |
17 |
24,663,808 (GRCm39) |
nonsense |
probably null |
|
|
R7240:E4f1
|
UTSW |
17 |
24,663,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:E4f1
|
UTSW |
17 |
24,674,207 (GRCm39) |
missense |
unknown |
|
|
R7648:E4f1
|
UTSW |
17 |
24,664,422 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8357:E4f1
|
UTSW |
17 |
24,665,501 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8457:E4f1
|
UTSW |
17 |
24,665,501 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8769:E4f1
|
UTSW |
17 |
24,663,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:E4f1
|
UTSW |
17 |
24,664,504 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9522:E4f1
|
UTSW |
17 |
24,666,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF002:E4f1
|
UTSW |
17 |
24,674,160 (GRCm39) |
unclassified |
probably benign |
|
|
RF011:E4f1
|
UTSW |
17 |
24,674,160 (GRCm39) |
unclassified |
probably benign |
|
|
RF020:E4f1
|
UTSW |
17 |
24,674,169 (GRCm39) |
unclassified |
probably benign |
|
|
RF023:E4f1
|
UTSW |
17 |
24,674,157 (GRCm39) |
unclassified |
probably benign |
|
|
RF028:E4f1
|
UTSW |
17 |
24,674,164 (GRCm39) |
unclassified |
probably benign |
|
|
RF033:E4f1
|
UTSW |
17 |
24,674,157 (GRCm39) |
unclassified |
probably benign |
|
|
RF035:E4f1
|
UTSW |
17 |
24,674,169 (GRCm39) |
unclassified |
probably benign |
|
|
RF035:E4f1
|
UTSW |
17 |
24,674,164 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:E4f1
|
UTSW |
17 |
24,665,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCATGTGGGCCTTGAGG -3'
(R):5'- TGAGGCTTCTAGTGGACTCC -3'
Sequencing Primer
(F):5'- CTTGAGGATGCTGCCCTG -3'
(R):5'- CTCCTGTGGAGGGATCTCTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation