Incidental Mutation 'R3408:E2f7'
| ID |
258383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f7
|
| Ensembl Gene |
ENSMUSG00000020185 |
| Gene Name |
E2F transcription factor 7 |
| Synonyms |
D10Ertd739e, A630014C11Rik, E2F7 |
| MMRRC Submission |
040626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R3408 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
110581300-110623245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110620578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 865
(T865M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073781]
[ENSMUST00000173471]
|
| AlphaFold |
Q6S7F2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073781
AA Change: T865M
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185
AA Change: T865M
| 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 |
possibly damaging
Transcript: ENSMUST00000173471
AA Change: T865M
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185
AA Change: T865M
| 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 |
noncoding transcript
Transcript: ENSMUST00000188776
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 89.1%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
C |
T |
2: 155,845,840 (GRCm39) |
V6I |
probably benign |
Het |
| Adam17 |
T |
A |
12: 21,379,119 (GRCm39) |
K643N |
probably damaging |
Het |
| Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Ephb3 |
T |
A |
16: 21,038,254 (GRCm39) |
Y341N |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,930,223 (GRCm39) |
V241E |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 33,902,104 (GRCm39) |
V500A |
probably damaging |
Het |
| Ilk |
A |
T |
7: 105,390,181 (GRCm39) |
M155L |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,275,574 (GRCm39) |
Q6283R |
probably damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,504,046 (GRCm39) |
M346K |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
T |
7: 97,730,294 (GRCm39) |
F758Y |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,834,029 (GRCm39) |
S49C |
probably null |
Het |
| Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
| Nr5a2 |
C |
T |
1: 136,868,236 (GRCm39) |
A299T |
probably benign |
Het |
| Or10ag60 |
A |
T |
2: 87,438,220 (GRCm39) |
I163L |
probably benign |
Het |
| Or4g16 |
A |
T |
2: 111,136,850 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or51q1c |
G |
T |
7: 103,652,550 (GRCm39) |
E23* |
probably null |
Het |
| Or9s23 |
A |
G |
1: 92,501,675 (GRCm39) |
T261A |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,192,749 (GRCm39) |
T559A |
probably damaging |
Het |
| Rfx2 |
G |
T |
17: 57,110,526 (GRCm39) |
D153E |
probably benign |
Het |
| Sh3bp4 |
G |
T |
1: 89,072,769 (GRCm39) |
C539F |
possibly damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,621,982 (GRCm39) |
H479L |
probably benign |
Het |
| Spmip9 |
C |
T |
6: 70,892,690 (GRCm39) |
S19N |
possibly damaging |
Het |
| Tmem150b |
G |
T |
7: 4,727,339 (GRCm39) |
F55L |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,548,148 (GRCm39) |
|
probably null |
Het |
| Vmn2r80 |
C |
T |
10: 79,004,227 (GRCm39) |
L147F |
possibly damaging |
Het |
| Vps50 |
A |
T |
6: 3,600,212 (GRCm39) |
K890N |
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 |
|
R4356:E2f7
|
UTSW |
10 |
110,595,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4542:E2f7
|
UTSW |
10 |
110,602,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTGTACCCGAGATACTCAGC -3'
(R):5'- GTGACCTGTGTTCCACTTAGG -3'
Sequencing Primer
(F):5'- GTACCCGAGATACTCAGCATTGTG -3'
(R):5'- CACTTAGGACATTTGTCTGGGACAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation