Incidental Mutation 'IGL02306:E4f1'
ID |
287594 |
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 # |
IGL02306
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24662752-24674366 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 24665903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 88
(R88S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056032]
[ENSMUST00000088506]
[ENSMUST00000119932]
[ENSMUST00000148820]
[ENSMUST00000226941]
[ENSMUST00000226754]
[ENSMUST00000226654]
[ENSMUST00000154675]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056032
AA Change: R247S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000062344 Gene: ENSMUSG00000024137 AA Change: R247S
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 |
probably damaging
Transcript: ENSMUST00000226941
AA Change: R247S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226754
AA Change: R247S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226654
AA Change: R88S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: ENSMUST00000227293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227241
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228882
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,952,044 (GRCm39) |
Y680C |
probably damaging |
Het |
Abcb11 |
C |
T |
2: 69,095,801 (GRCm39) |
W846* |
probably null |
Het |
Adam34 |
G |
A |
8: 44,103,522 (GRCm39) |
R708C |
probably benign |
Het |
Adam6a |
T |
A |
12: 113,509,343 (GRCm39) |
L572Q |
possibly damaging |
Het |
Aldoart2 |
A |
G |
12: 55,612,489 (GRCm39) |
Y138C |
probably damaging |
Het |
Amigo1 |
T |
A |
3: 108,095,302 (GRCm39) |
F267Y |
probably benign |
Het |
Car7 |
A |
G |
8: 105,275,630 (GRCm39) |
Y137C |
probably damaging |
Het |
Ccar2 |
A |
T |
14: 70,379,471 (GRCm39) |
M509K |
probably benign |
Het |
Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
Cmya5 |
C |
T |
13: 93,234,527 (GRCm39) |
G187D |
probably damaging |
Het |
Crot |
A |
T |
5: 9,018,701 (GRCm39) |
V555E |
possibly damaging |
Het |
Cstf1 |
C |
T |
2: 172,214,891 (GRCm39) |
T4I |
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,732,008 (GRCm39) |
K250E |
probably damaging |
Het |
Deaf1 |
T |
C |
7: 140,904,094 (GRCm39) |
|
probably null |
Het |
Dse |
C |
T |
10: 34,036,130 (GRCm39) |
E249K |
probably damaging |
Het |
Fam83a |
A |
C |
15: 57,858,704 (GRCm39) |
D248A |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,826,437 (GRCm39) |
D217G |
probably benign |
Het |
Hadhb |
T |
A |
5: 30,371,747 (GRCm39) |
L66Q |
probably null |
Het |
Kalrn |
T |
C |
16: 34,130,897 (GRCm39) |
E440G |
probably damaging |
Het |
Kif3b |
A |
G |
2: 153,162,572 (GRCm39) |
Y527C |
probably damaging |
Het |
Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
Krtap29-1 |
A |
T |
11: 99,869,092 (GRCm39) |
V263E |
probably damaging |
Het |
Mms19 |
A |
G |
19: 41,954,703 (GRCm39) |
L72P |
probably damaging |
Het |
Mylpf |
T |
A |
7: 126,812,330 (GRCm39) |
|
probably benign |
Het |
Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
Nedd4l |
T |
G |
18: 65,306,025 (GRCm39) |
S292R |
possibly damaging |
Het |
Nlrc3 |
A |
C |
16: 3,782,688 (GRCm39) |
D240E |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,890,497 (GRCm39) |
I7345N |
unknown |
Het |
Or4c102 |
A |
T |
2: 88,422,950 (GRCm39) |
K267N |
probably benign |
Het |
Ostn |
A |
T |
16: 27,165,691 (GRCm39) |
S127C |
probably damaging |
Het |
Patl1 |
A |
G |
19: 11,920,250 (GRCm39) |
K735E |
possibly damaging |
Het |
Pde12 |
A |
G |
14: 26,389,533 (GRCm39) |
L392P |
possibly damaging |
Het |
Plxdc2 |
A |
G |
2: 16,665,585 (GRCm39) |
I213V |
probably benign |
Het |
Plxna4 |
T |
A |
6: 32,183,059 (GRCm39) |
Y948F |
probably benign |
Het |
Prlhr |
A |
T |
19: 60,456,353 (GRCm39) |
V71E |
probably damaging |
Het |
Prlr |
C |
T |
15: 10,328,760 (GRCm39) |
P412S |
probably benign |
Het |
Prmt9 |
A |
G |
8: 78,287,447 (GRCm39) |
K196R |
probably benign |
Het |
Rundc3a |
T |
A |
11: 102,291,764 (GRCm39) |
L387Q |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,664,459 (GRCm39) |
I1611V |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,677,744 (GRCm39) |
|
probably null |
Het |
Scart1 |
T |
C |
7: 139,803,269 (GRCm39) |
C278R |
probably damaging |
Het |
Sfxn2 |
T |
A |
19: 46,578,987 (GRCm39) |
M240K |
probably damaging |
Het |
Skor2 |
T |
C |
18: 76,950,374 (GRCm39) |
S901P |
probably benign |
Het |
Smad4 |
T |
C |
18: 73,795,940 (GRCm39) |
|
probably null |
Het |
Snrnp40 |
T |
G |
4: 130,258,893 (GRCm39) |
C100W |
probably benign |
Het |
Spink5 |
T |
A |
18: 44,097,511 (GRCm39) |
D19E |
probably damaging |
Het |
Sult1d1 |
T |
A |
5: 87,703,914 (GRCm39) |
|
probably benign |
Het |
Wdr59 |
G |
A |
8: 112,219,365 (GRCm39) |
L231F |
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 |
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 |
2015-04-16 |