Incidental Mutation 'IGL01402:E4f1'
| ID |
79674 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
E4f1
|
| Ensembl Gene |
ENSMUSG00000024137 |
| Gene Name |
E4F transcription factor 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24662752-24674366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24663208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 699
(L699Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024946]
[ENSMUST00000056032]
[ENSMUST00000088506]
[ENSMUST00000119932]
[ENSMUST00000148820]
[ENSMUST00000226941]
[ENSMUST00000226654]
[ENSMUST00000226754]
[ENSMUST00000154675]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024946
|
| SMART Domains |
Protein: ENSMUSP00000024946
Gene: ENSMUSG00000024132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Pfam:ECH_1
|
39 |
288 |
3.2e-96 |
PFAM |
|
Pfam:ECH_2
|
44 |
289 |
5.1e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056032
AA Change: L699Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
AA Change: L699Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000153858
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228882
AA Change: L591Q
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227293
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000227241
|
| Coding Region Coverage |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,638,653 (GRCm39) |
S351P |
possibly damaging |
Het |
| Abca2 |
T |
C |
2: 25,332,015 (GRCm39) |
S1376P |
probably damaging |
Het |
| Ablim3 |
A |
G |
18: 62,004,754 (GRCm39) |
Y12H |
probably damaging |
Het |
| Akr1b7 |
A |
G |
6: 34,398,052 (GRCm39) |
R294G |
possibly damaging |
Het |
| Aldh3b1 |
A |
C |
19: 3,971,205 (GRCm39) |
V153G |
probably benign |
Het |
| Alk |
A |
T |
17: 72,181,173 (GRCm39) |
H1372Q |
probably damaging |
Het |
| Ano9 |
A |
C |
7: 140,681,955 (GRCm39) |
Y731* |
probably null |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Asl |
T |
C |
5: 130,048,645 (GRCm39) |
E43G |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,784,105 (GRCm39) |
D476G |
probably benign |
Het |
| Cpa1 |
A |
G |
6: 30,645,275 (GRCm39) |
H417R |
possibly damaging |
Het |
| Cpeb3 |
T |
C |
19: 37,065,948 (GRCm39) |
D407G |
probably benign |
Het |
| Dcaf15 |
A |
T |
8: 84,825,026 (GRCm39) |
C469S |
probably damaging |
Het |
| Dpy19l4 |
C |
A |
4: 11,273,006 (GRCm39) |
|
probably null |
Het |
| Eif4g2 |
A |
G |
7: 110,676,234 (GRCm39) |
F349S |
possibly damaging |
Het |
| Ermap |
T |
C |
4: 119,044,355 (GRCm39) |
Y147C |
probably damaging |
Het |
| Frk |
A |
C |
10: 34,423,381 (GRCm39) |
E153A |
probably damaging |
Het |
| Fubp3 |
G |
A |
2: 31,494,733 (GRCm39) |
|
probably null |
Het |
| Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
| Gjc3 |
A |
G |
5: 137,956,120 (GRCm39) |
F55S |
probably damaging |
Het |
| Gm10762 |
C |
T |
2: 128,809,005 (GRCm39) |
|
probably benign |
Het |
| Got1 |
A |
G |
19: 43,493,048 (GRCm39) |
I291T |
possibly damaging |
Het |
| Gpr179 |
C |
A |
11: 97,229,012 (GRCm39) |
G1048* |
probably null |
Het |
| Hectd3 |
G |
T |
4: 116,853,262 (GRCm39) |
R163L |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,477,480 (GRCm39) |
|
probably benign |
Het |
| Ifnb1 |
T |
C |
4: 88,440,480 (GRCm39) |
R178G |
probably benign |
Het |
| Ino80 |
T |
A |
2: 119,287,199 (GRCm39) |
D56V |
possibly damaging |
Het |
| Kctd1 |
T |
A |
18: 15,102,610 (GRCm39) |
Q857L |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,367,640 (GRCm39) |
L445* |
probably null |
Het |
| Lins1 |
G |
A |
7: 66,363,676 (GRCm39) |
V524I |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,430,901 (GRCm39) |
Y383N |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mgam |
A |
C |
6: 40,621,879 (GRCm39) |
K84Q |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,314,703 (GRCm39) |
F494L |
probably benign |
Het |
| Mpped1 |
T |
C |
15: 83,676,414 (GRCm39) |
F60S |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,245,048 (GRCm39) |
Y382C |
probably benign |
Het |
| Ncor1 |
C |
A |
11: 62,231,300 (GRCm39) |
V836F |
probably damaging |
Het |
| Nktr |
G |
A |
9: 121,570,218 (GRCm39) |
|
probably null |
Het |
| Or10al4 |
A |
G |
17: 38,037,193 (GRCm39) |
T93A |
probably benign |
Het |
| Or4d5 |
A |
G |
9: 40,012,558 (GRCm39) |
I76T |
probably benign |
Het |
| Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
| Rnf144a |
T |
A |
12: 26,377,300 (GRCm39) |
Y93F |
probably benign |
Het |
| Rubcn |
G |
A |
16: 32,647,666 (GRCm39) |
T636M |
probably damaging |
Het |
| Scn5a |
A |
C |
9: 119,315,536 (GRCm39) |
L1724R |
probably damaging |
Het |
| Sel1l |
A |
G |
12: 91,808,607 (GRCm39) |
S45P |
possibly damaging |
Het |
| Serpina3k |
A |
G |
12: 104,306,882 (GRCm39) |
D38G |
probably benign |
Het |
| Sh3bgr |
A |
C |
16: 96,007,690 (GRCm39) |
K18N |
probably damaging |
Het |
| Slc28a2 |
T |
G |
2: 122,282,538 (GRCm39) |
I287M |
probably damaging |
Het |
| St8sia6 |
T |
C |
2: 13,670,318 (GRCm39) |
N214S |
probably damaging |
Het |
| Syt11 |
A |
G |
3: 88,669,523 (GRCm39) |
I123T |
probably benign |
Het |
| Tcerg1l |
A |
T |
7: 137,861,568 (GRCm39) |
I387N |
probably damaging |
Het |
| Tfg |
C |
A |
16: 56,514,856 (GRCm39) |
|
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,880,519 (GRCm39) |
K307E |
possibly damaging |
Het |
| Tmem177 |
T |
C |
1: 119,837,791 (GRCm39) |
D296G |
probably damaging |
Het |
| Tmem270 |
C |
T |
5: 134,930,763 (GRCm39) |
|
probably benign |
Het |
| Tnrc6b |
G |
T |
15: 80,764,745 (GRCm39) |
G749V |
possibly damaging |
Het |
| Trp63 |
C |
A |
16: 25,639,135 (GRCm39) |
|
probably benign |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,617 (GRCm39) |
L10P |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,596,009 (GRCm39) |
K854M |
probably damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,484,467 (GRCm39) |
N446S |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,820,486 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
G |
A |
6: 34,865,998 (GRCm39) |
P518L |
probably benign |
Het |
| Yap1 |
G |
A |
9: 7,934,742 (GRCm39) |
|
probably benign |
Het |
| Zfp282 |
A |
C |
6: 47,874,770 (GRCm39) |
D325A |
probably damaging |
Het |
|
| Other mutations in E4f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation