Incidental Mutation 'R6240:E4f1'
| ID |
505209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E4f1
|
| Ensembl Gene |
ENSMUSG00000024137 |
| Gene Name |
E4F transcription factor 1 |
| Synonyms |
|
| MMRRC Submission |
044364-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6240 (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 G
at 24663556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 524
(S524P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056032]
[ENSMUST00000088506]
[ENSMUST00000119932]
[ENSMUST00000148820]
[ENSMUST00000154675]
[ENSMUST00000226941]
[ENSMUST00000226654]
[ENSMUST00000226754]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056032
AA Change: S632P
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
AA Change: S632P
| 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 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 benign
Transcript: ENSMUST00000226941
AA Change: S633P
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228882
AA Change: S524P
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226754
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
A |
14: 64,223,701 (GRCm39) |
R25L |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,045 (GRCm39) |
S185L |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,286,044 (GRCm39) |
D751V |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,766,544 (GRCm39) |
D405G |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,852,980 (GRCm39) |
D516G |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,947 (GRCm39) |
D4077V |
probably damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,489,658 (GRCm39) |
R330Q |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,407,997 (GRCm39) |
V2170A |
unknown |
Het |
| Asxl3 |
C |
T |
18: 22,598,565 (GRCm39) |
L227F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,650,253 (GRCm39) |
I119V |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,694,640 (GRCm39) |
S1618T |
probably benign |
Het |
| Cad |
T |
A |
5: 31,230,322 (GRCm39) |
M1512K |
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,713,226 (GRCm39) |
T172A |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
| Clmp |
A |
G |
9: 40,693,707 (GRCm39) |
N308S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,199,596 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| Epha5 |
G |
C |
5: 84,265,438 (GRCm39) |
A452G |
probably benign |
Het |
| Fzd3 |
T |
C |
14: 65,447,304 (GRCm39) |
T542A |
probably damaging |
Het |
| Glyctk |
A |
T |
9: 106,033,461 (GRCm39) |
|
probably null |
Het |
| Gm10382 |
G |
A |
5: 125,466,660 (GRCm39) |
|
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,904,281 (GRCm39) |
M127L |
probably benign |
Het |
| Hoxc10 |
T |
A |
15: 102,879,265 (GRCm39) |
W262R |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,944,454 (GRCm39) |
W52R |
possibly damaging |
Het |
| Jazf1 |
A |
T |
6: 52,754,537 (GRCm39) |
C180S |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 188,975,179 (GRCm39) |
W286R |
probably damaging |
Het |
| Kcnmb2 |
C |
T |
3: 32,236,045 (GRCm39) |
S98F |
probably damaging |
Het |
| Mob3a |
C |
G |
10: 80,525,698 (GRCm39) |
E204D |
possibly damaging |
Het |
| Morc3 |
C |
G |
16: 93,659,572 (GRCm39) |
H459D |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,964,126 (GRCm39) |
N876I |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,420,930 (GRCm39) |
T257S |
probably damaging |
Het |
| Nat1 |
A |
T |
8: 67,944,354 (GRCm39) |
R243S |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,194,955 (GRCm39) |
V17A |
probably benign |
Het |
| Or13p8 |
A |
G |
4: 118,583,668 (GRCm39) |
S75G |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,970 (GRCm39) |
I146T |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,707 (GRCm39) |
D82G |
probably benign |
Het |
| Or4m1 |
A |
G |
14: 50,558,043 (GRCm39) |
V83A |
probably benign |
Het |
| Or6c70 |
C |
A |
10: 129,710,546 (GRCm39) |
V27L |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,878,704 (GRCm39) |
L753P |
probably damaging |
Het |
| Pcf11 |
T |
A |
7: 92,295,710 (GRCm39) |
E1446D |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,721,176 (GRCm39) |
I267V |
probably benign |
Het |
| Plk2 |
T |
A |
13: 110,536,008 (GRCm39) |
Y571N |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,536,568 (GRCm39) |
V620E |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,570,506 (GRCm39) |
L363P |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,584,479 (GRCm39) |
T387A |
probably damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,127,297 (GRCm39) |
C61Y |
probably damaging |
Het |
| Rab18 |
T |
C |
18: 6,784,635 (GRCm39) |
Y109H |
probably benign |
Het |
| Robo2 |
G |
A |
16: 73,779,027 (GRCm39) |
P358L |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,323,893 (GRCm39) |
|
probably benign |
Het |
| Spata31e4 |
G |
A |
13: 50,855,453 (GRCm39) |
D364N |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,883,061 (GRCm39) |
I13T |
probably benign |
Het |
| Tcf12 |
T |
A |
9: 71,851,298 (GRCm39) |
K110* |
probably null |
Het |
| Tdrd1 |
T |
C |
19: 56,829,767 (GRCm39) |
S214P |
probably benign |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Tmem255b |
A |
G |
8: 13,504,216 (GRCm39) |
Y136C |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,123,179 (GRCm39) |
I448F |
possibly damaging |
Het |
| Tnpo1 |
T |
C |
13: 99,000,337 (GRCm39) |
I335M |
probably damaging |
Het |
| Vmn1r1 |
T |
C |
1: 181,985,186 (GRCm39) |
T160A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,899 (GRCm39) |
N227D |
possibly damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,464,226 (GRCm39) |
S203C |
probably damaging |
Het |
| Zfp628 |
A |
G |
7: 4,922,848 (GRCm39) |
T357A |
possibly damaging |
Het |
| Zfp872 |
A |
G |
9: 22,111,180 (GRCm39) |
K220E |
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 |
|
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 |
|
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'- ATGTGACTGTCCACCTGCAG -3'
(R):5'- AAGGTTTGAGCCACACGTG -3'
Sequencing Primer
(F):5'- ACTGTCCACCTGCAGAGAGC -3'
(R):5'- CCACACGTGGCAGGAGAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation