Incidental Mutation 'R8965:E4f1'
| ID |
682699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E4f1
|
| Ensembl Gene |
ENSMUSG00000024137 |
| Gene Name |
E4F transcription factor 1 |
| Synonyms |
|
| MMRRC Submission |
068799-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24662752-24674366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24664504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 429
(V429M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062344
(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: V429M
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
AA Change: V429M
| 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: ENSMUST00000129401
|
| 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: V271M
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226754
AA Change: V430M
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226941
AA Change: V430M
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,760,723 (GRCm39) |
I1260K |
probably benign |
Het |
| Ace3 |
G |
T |
11: 105,896,175 (GRCm39) |
C707F |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,839,761 (GRCm39) |
H224R |
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,107,612 (GRCm39) |
D669G |
probably benign |
Het |
| Cdk5rap2 |
A |
C |
4: 70,185,042 (GRCm39) |
V1136G |
probably benign |
Het |
| Cntnap4 |
T |
A |
8: 113,479,646 (GRCm39) |
V277E |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,186 (GRCm39) |
L416P |
possibly damaging |
Het |
| Dnah17 |
T |
G |
11: 117,915,492 (GRCm39) |
T4376P |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,531,738 (GRCm39) |
D419E |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,296,990 (GRCm39) |
E451G |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,118,469 (GRCm39) |
Y181H |
probably damaging |
Het |
| Igkv2-109 |
A |
T |
6: 68,280,112 (GRCm39) |
Y111F |
probably damaging |
Het |
| Lztr1 |
T |
C |
16: 17,327,296 (GRCm39) |
|
probably null |
Het |
| Myh13 |
A |
T |
11: 67,255,432 (GRCm39) |
M1601L |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,901 (GRCm39) |
I207F |
possibly damaging |
Het |
| Or2w2 |
T |
C |
13: 21,758,387 (GRCm39) |
T80A |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,314 (GRCm39) |
L130P |
probably damaging |
Het |
| P2rx1 |
T |
C |
11: 72,900,051 (GRCm39) |
V156A |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,791,134 (GRCm39) |
N444S |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,257,815 (GRCm39) |
Y559H |
probably damaging |
Het |
| Pcna |
T |
C |
2: 132,094,769 (GRCm39) |
D63G |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
| Peli1 |
T |
C |
11: 21,098,488 (GRCm39) |
Y408H |
probably damaging |
Het |
| Psma5 |
T |
A |
3: 108,172,510 (GRCm39) |
|
probably null |
Het |
| Ptpn11 |
G |
A |
5: 121,301,229 (GRCm39) |
T205M |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,851 (GRCm39) |
L453P |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,671,982 (GRCm39) |
V910A |
possibly damaging |
Het |
| Spaca6 |
A |
G |
17: 18,058,718 (GRCm39) |
T306A |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,680,009 (GRCm39) |
Y422* |
probably null |
Het |
| Svop |
A |
G |
5: 114,173,271 (GRCm39) |
Y367H |
probably benign |
Het |
| Trgv3 |
T |
A |
13: 19,427,180 (GRCm39) |
L21Q |
probably damaging |
Het |
| Trim38 |
T |
C |
13: 23,975,006 (GRCm39) |
L315S |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,901,797 (GRCm39) |
Y521N |
possibly damaging |
Het |
| Vcam1 |
T |
A |
3: 115,922,422 (GRCm39) |
K34* |
probably null |
Het |
| Vwa1 |
A |
T |
4: 155,857,440 (GRCm39) |
Y119* |
probably null |
Het |
| Vwa5b2 |
A |
G |
16: 20,415,076 (GRCm39) |
H366R |
possibly damaging |
Het |
| Wac |
C |
A |
18: 7,905,936 (GRCm39) |
Q168K |
probably benign |
Het |
| Wipf2 |
A |
G |
11: 98,783,497 (GRCm39) |
S308G |
probably benign |
Het |
| Zbtb25 |
A |
C |
12: 76,396,577 (GRCm39) |
I215S |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,155 (GRCm39) |
S71P |
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 |
|
R5543:E4f1
|
UTSW |
17 |
24,666,336 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
|
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'- AATGTCAGGGCATTTTCACCAC -3'
(R):5'- CAGGTAGCCTCAAATTTACAGTG -3'
Sequencing Primer
(F):5'- GGGCATTTTCACCACCCACAAG -3'
(R):5'- CAGTGTAGCCAGTGTTAACCTCAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation