Incidental Mutation 'R7648:E4f1'
| ID |
590665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E4f1
|
| Ensembl Gene |
ENSMUSG00000024137 |
| Gene Name |
E4F transcription factor 1 |
| Synonyms |
|
| MMRRC Submission |
045726-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24662752-24674366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24664422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 456
(I456K)
|
| 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: I456K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
AA Change: I456K
| 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: I298K
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226754
AA Change: I457K
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226941
AA Change: I457K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,261,886 (GRCm39) |
V46A |
possibly damaging |
Het |
| Asb13 |
C |
A |
13: 3,699,332 (GRCm39) |
N177K |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,852 (GRCm39) |
T233A |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,077,182 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
G |
T |
5: 121,934,440 (GRCm39) |
V880F |
probably damaging |
Het |
| Car14 |
T |
C |
3: 95,805,507 (GRCm39) |
N322S |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,343,587 (GRCm39) |
E40G |
probably damaging |
Het |
| Ceacam16 |
G |
T |
7: 19,586,203 (GRCm39) |
A103E |
unknown |
Het |
| Cnnm2 |
A |
G |
19: 46,866,339 (GRCm39) |
D829G |
probably damaging |
Het |
| Cpt1b |
C |
T |
15: 89,305,570 (GRCm39) |
A382T |
probably damaging |
Het |
| Crygc |
A |
G |
1: 65,112,484 (GRCm39) |
F30S |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,060,992 (GRCm39) |
Q176R |
possibly damaging |
Het |
| Ctif |
A |
T |
18: 75,770,213 (GRCm39) |
H57Q |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,289 (GRCm39) |
*195Q |
probably null |
Het |
| Cyp2j8 |
T |
A |
4: 96,387,840 (GRCm39) |
D207V |
probably damaging |
Het |
| Ddx49 |
A |
G |
8: 70,750,605 (GRCm39) |
V123A |
possibly damaging |
Het |
| Eif4b |
T |
C |
15: 101,997,435 (GRCm39) |
S317P |
unknown |
Het |
| Enam |
A |
T |
5: 88,652,016 (GRCm39) |
Q1175L |
possibly damaging |
Het |
| Eppk1 |
T |
C |
15: 75,994,871 (GRCm39) |
Y670C |
probably benign |
Het |
| Fam163b |
G |
T |
2: 27,002,752 (GRCm39) |
Q82K |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,588,526 (GRCm39) |
K358N |
probably damaging |
Het |
| Gls |
C |
A |
1: 52,235,939 (GRCm39) |
R392L |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 43,810,232 (GRCm39) |
V247A |
probably damaging |
Het |
| Gucy1a1 |
C |
T |
3: 82,016,014 (GRCm39) |
E325K |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,392,434 (GRCm39) |
C233R |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Kif28 |
A |
G |
1: 179,536,989 (GRCm39) |
V498A |
possibly damaging |
Het |
| Klhdc7a |
T |
C |
4: 139,693,250 (GRCm39) |
S566G |
possibly damaging |
Het |
| Mlph |
G |
A |
1: 90,861,248 (GRCm39) |
|
probably null |
Het |
| Mndal |
T |
A |
1: 173,684,961 (GRCm39) |
Y536F |
probably benign |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,411 (GRCm39) |
C282* |
probably null |
Het |
| Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
| Msh3 |
A |
T |
13: 92,410,536 (GRCm39) |
I684N |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,680,879 (GRCm39) |
K747R |
probably benign |
Het |
| Nup98 |
T |
G |
7: 101,773,404 (GRCm39) |
H1641P |
possibly damaging |
Het |
| Or8b35 |
A |
C |
9: 37,903,856 (GRCm39) |
T18P |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,728,736 (GRCm39) |
N570D |
probably damaging |
Het |
| Plekhh1 |
T |
A |
12: 79,101,905 (GRCm39) |
V325E |
probably benign |
Het |
| Rabl3 |
A |
T |
16: 37,384,120 (GRCm39) |
I176F |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,353,767 (GRCm39) |
E37G |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Tars2 |
G |
A |
3: 95,658,294 (GRCm39) |
T177I |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,997,563 (GRCm39) |
N842I |
probably damaging |
Het |
| Tmem175 |
A |
G |
5: 108,792,432 (GRCm39) |
E236G |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,753 (GRCm39) |
T2497A |
probably benign |
Het |
| Trf |
A |
G |
9: 103,105,168 (GRCm39) |
V48A |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,331,258 (GRCm39) |
K493E |
possibly damaging |
Het |
| Unc50 |
T |
C |
1: 37,470,402 (GRCm39) |
S9P |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,341,861 (GRCm39) |
|
probably null |
Het |
| Usp49 |
A |
T |
17: 47,985,753 (GRCm39) |
N487I |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,660,638 (GRCm39) |
D768G |
probably benign |
Het |
| Xcr1 |
T |
C |
9: 123,685,657 (GRCm39) |
E35G |
possibly 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 |
|
|
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'- ACCTCCTGGTGCTTCTTGAG -3'
(R):5'- ACTGTTAACTCCCTTACCTAAAGCC -3'
Sequencing Primer
(F):5'- CTTCTTGAGCAGGTAGGCTTTG -3'
(R):5'- TCCCTTACCTAAAGCCTGGAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation