Incidental Mutation 'R4542:E2f7'
| ID |
333593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f7
|
| Ensembl Gene |
ENSMUSG00000020185 |
| Gene Name |
E2F transcription factor 7 |
| Synonyms |
D10Ertd739e, A630014C11Rik, E2F7 |
| MMRRC Submission |
041593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R4542 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
110581300-110623245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110602984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 333
(V333E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073781]
[ENSMUST00000173471]
|
| AlphaFold |
Q6S7F2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073781
AA Change: V333E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185
AA Change: V333E
| Domain | Start | End | E-Value | Type |
|---|
|
E2F_TDP
|
143 |
212 |
1.12e-28 |
SMART |
|
E2F_TDP
|
283 |
368 |
1.28e-32 |
SMART |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
755 |
767 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173471
AA Change: V333E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185
AA Change: V333E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
143 |
212 |
1.8e-23 |
PFAM |
|
Pfam:E2F_TDP
|
283 |
368 |
3.7e-24 |
PFAM |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
755 |
767 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173948
|
| SMART Domains |
Protein: ENSMUSP00000134039
Gene: ENSMUSG00000020185
| Domain | Start | End | E-Value | Type |
|---|
|
E2F_TDP
|
29 |
98 |
1.12e-28 |
SMART |
|
E2F_TDP
|
169 |
219 |
3.34e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174810
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop normally through puberty and survive to old age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,875 (GRCm39) |
L833Q |
probably damaging |
Het |
| Adcy6 |
C |
G |
15: 98,496,869 (GRCm39) |
V469L |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,937,591 (GRCm39) |
F57I |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,329 (GRCm39) |
I734V |
probably benign |
Het |
| Cab39l |
C |
A |
14: 59,734,351 (GRCm39) |
D23E |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,860,991 (GRCm39) |
T839A |
probably benign |
Het |
| Clgn |
A |
G |
8: 84,146,838 (GRCm39) |
E297G |
probably damaging |
Het |
| Crip1 |
A |
G |
12: 113,117,109 (GRCm39) |
Y108C |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,197,688 (GRCm39) |
S61G |
probably benign |
Het |
| Dph5 |
T |
C |
3: 115,722,274 (GRCm39) |
S251P |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,930,728 (GRCm39) |
D918G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,096,980 (GRCm39) |
E254G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,494,931 (GRCm39) |
C4065R |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,148 (GRCm39) |
F169S |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,684 (GRCm39) |
I1384T |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,878,593 (GRCm39) |
L302* |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,558,889 (GRCm39) |
|
silent |
Het |
| Nlrp1b |
A |
C |
11: 71,119,151 (GRCm39) |
L48W |
probably damaging |
Het |
| Nlrp4c |
G |
A |
7: 6,103,826 (GRCm39) |
W920* |
probably null |
Het |
| Nr2f1 |
C |
T |
13: 78,337,940 (GRCm39) |
G235D |
probably damaging |
Het |
| Nt5dc2 |
T |
A |
14: 30,860,095 (GRCm39) |
D374E |
probably benign |
Het |
| Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,850 (GRCm39) |
D120G |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,287 (GRCm39) |
D312G |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,283,589 (GRCm39) |
I742T |
probably damaging |
Het |
| Rftn1 |
A |
G |
17: 50,362,259 (GRCm39) |
|
probably null |
Het |
| Rfx1 |
G |
A |
8: 84,816,866 (GRCm39) |
G466S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,584,200 (GRCm39) |
S1472T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,799,394 (GRCm39) |
Q421R |
probably benign |
Het |
| Slc25a10 |
G |
A |
11: 120,388,807 (GRCm39) |
|
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,097 (GRCm39) |
Y1510C |
unknown |
Het |
| Ssu72 |
A |
G |
4: 155,817,934 (GRCm39) |
Q163R |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,795,181 (GRCm39) |
Y223H |
probably damaging |
Het |
| Syne3 |
A |
T |
12: 104,935,503 (GRCm39) |
S92T |
probably benign |
Het |
| Ulbp1 |
T |
C |
10: 7,406,570 (GRCm39) |
D45G |
probably damaging |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,357 (GRCm39) |
Y207C |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,497 (GRCm39) |
D305G |
possibly damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,276,232 (GRCm39) |
K522E |
probably damaging |
Het |
|
| Other mutations in E2f7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01320:E2f7
|
APN |
10 |
110,589,954 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01592:E2f7
|
APN |
10 |
110,582,267 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01614:E2f7
|
APN |
10 |
110,595,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01829:E2f7
|
APN |
10 |
110,614,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01843:E2f7
|
APN |
10 |
110,610,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02683:E2f7
|
APN |
10 |
110,618,320 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03229:E2f7
|
APN |
10 |
110,590,207 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0245:E2f7
|
UTSW |
10 |
110,610,656 (GRCm39) |
nonsense |
probably null |
|
|
R2108:E2f7
|
UTSW |
10 |
110,616,763 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2259:E2f7
|
UTSW |
10 |
110,582,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3408:E2f7
|
UTSW |
10 |
110,620,578 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4356:E2f7
|
UTSW |
10 |
110,595,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4763:E2f7
|
UTSW |
10 |
110,616,710 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5236:E2f7
|
UTSW |
10 |
110,603,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5520:E2f7
|
UTSW |
10 |
110,595,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:E2f7
|
UTSW |
10 |
110,610,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7253:E2f7
|
UTSW |
10 |
110,602,164 (GRCm39) |
splice site |
probably null |
|
|
R7320:E2f7
|
UTSW |
10 |
110,599,991 (GRCm39) |
missense |
not run |
|
|
R7348:E2f7
|
UTSW |
10 |
110,616,836 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8219:E2f7
|
UTSW |
10 |
110,595,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8530:E2f7
|
UTSW |
10 |
110,614,859 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8887:E2f7
|
UTSW |
10 |
110,610,674 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8958:E2f7
|
UTSW |
10 |
110,601,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9092:E2f7
|
UTSW |
10 |
110,616,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9166:E2f7
|
UTSW |
10 |
110,618,085 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9192:E2f7
|
UTSW |
10 |
110,599,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9454:E2f7
|
UTSW |
10 |
110,620,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9474:E2f7
|
UTSW |
10 |
110,614,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9474:E2f7
|
UTSW |
10 |
110,603,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9538:E2f7
|
UTSW |
10 |
110,616,628 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGTTGTGTGTCTGCAGAG -3'
(R):5'- CGGGAAAAGGCCAGTTTTG -3'
Sequencing Primer
(F):5'- TGTCTGCAGAGGATTCAGGGAC -3'
(R):5'- GAAAAGGCCAGTTTTGCTGTCTAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation