Incidental Mutation 'RF033:E4f1'
| ID |
604463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E4f1
|
| Ensembl Gene |
ENSMUSG00000024137 |
| Gene Name |
E4F transcription factor 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF033 (G1)
|
| Quality Score |
169.468 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24662752-24674366 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
AGGC to AGGCGGC
at 24674157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056032]
[ENSMUST00000226654]
[ENSMUST00000226754]
[ENSMUST00000226941]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056032
|
| SMART Domains |
Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
| 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: ENSMUST00000226654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228882
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 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 |
|---|
| AI837181 |
GCG |
GCGTCG |
19: 5,475,252 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGG |
GGGGGGG |
17: 5,045,860 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
CCCGGGCACT |
C |
8: 21,433,904 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCTGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTTCT |
17: 46,811,780 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
| Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTG |
GTGAGTGTGCTGATG |
5: 110,525,991 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,607 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,629 (GRCm39) |
|
probably benign |
Het |
| Gm47955 |
TGG |
TGGTTGTGGCGG |
1: 82,938,246 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,025 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTCTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Heatr3 |
TTAT |
TTATGTAT |
8: 88,883,084 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 37,179,913 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGGAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTTCAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Luzp1 |
A |
AGGTGTCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA |
2: 121,136,780 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,408 (GRCm39) |
|
probably benign |
Het |
| Nalf2 |
CG |
CGCCGCTG |
X: 98,864,979 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTG |
GGGGACTTGTCCTCACCTGGGACTTG |
11: 4,891,029 (GRCm39) |
|
probably null |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GCAAGCTGAGA |
GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA |
2: 119,458,081 (GRCm39) |
|
probably benign |
Het |
| P4ha3 |
GGGGG |
GGGGGG |
7: 99,960,017 (GRCm39) |
|
probably null |
Het |
| Pdia4 |
ATCCTCTTCCTC |
ATC |
6: 47,785,222 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
TTT |
TTTTTTTTTTCTT |
15: 44,421,902 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
TTG |
TTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,002 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TG |
TGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,003 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
G |
GTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,004 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
GTATTG |
GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,937,999 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TATTG |
TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG |
2: 155,938,000 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAC |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
TGTTT |
TGTTTGTTGGTTT |
4: 107,047,725 (GRCm39) |
|
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 |
|
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 |
|
|
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'- ACCTGTGAGAGTTGTGAAGGTTTAC -3'
(R):5'- TTGCCTGTCCGTCAAATTCG -3'
Sequencing Primer
(F):5'- GGTTTACAGACACTCGAGTAGCC -3'
(R):5'- TGCCTGTCGGACACGCAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation