Incidental Mutation 'R5243:E4f1'
| ID |
401016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E4f1
|
| Ensembl Gene |
ENSMUSG00000024137 |
| Gene Name |
E4F transcription factor 1 |
| Synonyms |
|
| MMRRC Submission |
042814-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24662752-24674366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24666292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 198
(C198S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154444
(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 damaging
Transcript: ENSMUST00000056032
AA Change: C198S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
AA Change: C198S
| 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 |
probably damaging
Transcript: ENSMUST00000226654
AA Change: C39S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226754
AA Change: C198S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228882
AA Change: C120S
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226941
AA Change: C198S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227241
|
| Meta Mutation Damage Score |
0.9722 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (62/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,956,543 (GRCm39) |
|
probably null |
Het |
| Aatk |
A |
G |
11: 119,907,594 (GRCm39) |
L78P |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,045,972 (GRCm39) |
I412K |
probably damaging |
Het |
| Acer3 |
T |
C |
7: 97,867,277 (GRCm39) |
R246G |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,693,994 (GRCm39) |
I387F |
probably damaging |
Het |
| Atp6v1b2 |
A |
T |
8: 69,556,391 (GRCm39) |
M300L |
probably benign |
Het |
| Aurkb |
T |
A |
11: 68,936,752 (GRCm39) |
|
probably benign |
Het |
| Card10 |
C |
A |
15: 78,664,872 (GRCm39) |
G694V |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,522,344 (GRCm39) |
N336S |
probably damaging |
Het |
| Copg2 |
T |
C |
6: 30,750,626 (GRCm39) |
T720A |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,545,620 (GRCm39) |
W272R |
probably damaging |
Het |
| Cpne6 |
T |
A |
14: 55,750,204 (GRCm39) |
C112S |
probably damaging |
Het |
| Ddx21 |
A |
G |
10: 62,437,992 (GRCm39) |
M1T |
probably null |
Het |
| Dohh |
A |
G |
10: 81,223,203 (GRCm39) |
R161G |
probably benign |
Het |
| Dsc1 |
A |
C |
18: 20,232,216 (GRCm39) |
V264G |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,113,795 (GRCm39) |
E1298D |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,363,260 (GRCm39) |
I246F |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,982,193 (GRCm39) |
F136S |
possibly damaging |
Het |
| Hck |
T |
C |
2: 152,986,412 (GRCm39) |
V387A |
probably damaging |
Het |
| Hdac1 |
G |
A |
4: 129,410,646 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
C |
8: 111,232,380 (GRCm39) |
Q1633P |
possibly damaging |
Het |
| Igkv12-41 |
A |
G |
6: 69,835,686 (GRCm39) |
I22T |
probably damaging |
Het |
| Ints3 |
CA |
CAA |
3: 90,308,451 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
C |
G |
6: 146,089,044 (GRCm39) |
W2188C |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,798,086 (GRCm39) |
E899G |
probably damaging |
Het |
| Lgals8 |
C |
A |
13: 12,469,645 (GRCm39) |
V12L |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 135,037,010 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
T |
G |
5: 105,628,812 (GRCm39) |
I386S |
probably damaging |
Het |
| Mks1 |
T |
C |
11: 87,747,504 (GRCm39) |
|
probably benign |
Het |
| Mon1b |
A |
G |
8: 114,364,553 (GRCm39) |
D110G |
possibly damaging |
Het |
| Mpdz |
G |
T |
4: 81,225,116 (GRCm39) |
A1437E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,309,487 (GRCm39) |
N1753K |
probably damaging |
Het |
| Nceh1 |
T |
C |
3: 27,295,837 (GRCm39) |
V366A |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,229,788 (GRCm39) |
D893E |
probably damaging |
Het |
| Npc1 |
T |
A |
18: 12,331,688 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
C |
2: 36,458,655 (GRCm39) |
L15P |
probably damaging |
Het |
| Or9i1b |
A |
G |
19: 13,897,025 (GRCm39) |
I214V |
probably damaging |
Het |
| Podxl2 |
T |
C |
6: 88,826,356 (GRCm39) |
T317A |
probably benign |
Het |
| Prl8a9 |
T |
G |
13: 27,746,446 (GRCm39) |
Q54P |
probably damaging |
Het |
| Prpf31 |
C |
T |
7: 3,641,753 (GRCm39) |
R351* |
probably null |
Het |
| Pspc1 |
C |
T |
14: 57,001,648 (GRCm39) |
G242D |
probably damaging |
Het |
| Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,001,836 (GRCm39) |
H1763Q |
possibly damaging |
Het |
| Rpusd3 |
T |
C |
6: 113,395,025 (GRCm39) |
T85A |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,126,187 (GRCm39) |
I1853M |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,443,406 (GRCm39) |
C1817* |
probably null |
Het |
| Scrib |
A |
T |
15: 75,937,101 (GRCm39) |
V335E |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,715,912 (GRCm39) |
L1549P |
possibly damaging |
Het |
| Slc25a11 |
C |
T |
11: 70,536,924 (GRCm39) |
G44S |
probably damaging |
Het |
| Slc6a3 |
A |
G |
13: 73,719,570 (GRCm39) |
Y533C |
possibly damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,623,274 (GRCm39) |
V191A |
probably damaging |
Het |
| Son |
A |
G |
16: 91,451,621 (GRCm39) |
K123E |
probably damaging |
Het |
| Tcstv3 |
T |
A |
13: 120,779,125 (GRCm39) |
M8K |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,339,548 (GRCm39) |
V411A |
probably damaging |
Het |
| Upk3bl |
C |
A |
5: 136,088,977 (GRCm39) |
D1E |
possibly damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Vmn2r75 |
T |
C |
7: 85,813,447 (GRCm39) |
N452D |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,226,054 (GRCm39) |
N1043I |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,579,216 (GRCm39) |
H632Q |
probably damaging |
Het |
| Zfp423 |
T |
C |
8: 88,500,275 (GRCm39) |
K1174R |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCACATACCAGTGTGCCG -3'
(R):5'- GGGCACATCAAAGAGGTCATTG -3'
Sequencing Primer
(F):5'- AGCCCTTGGTCCGAAAAG -3'
(R):5'- CATCAAAGAGGTCATTGTGGCTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation