Incidental Mutation 'R4356:E2f7'
ID |
327559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
E2f7
|
Ensembl Gene |
ENSMUSG00000020185 |
Gene Name |
E2F transcription factor 7 |
Synonyms |
D10Ertd739e, A630014C11Rik, E2F7 |
MMRRC Submission |
041669-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R4356 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
110581300-110623245 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110595712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 136
(Y136H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073781]
[ENSMUST00000173471]
[ENSMUST00000174857]
|
AlphaFold |
Q6S7F2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073781
AA Change: Y136H
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000073453 Gene: ENSMUSG00000020185 AA Change: Y136H
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 |
noncoding transcript
Transcript: ENSMUST00000172574
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173471
AA Change: Y136H
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133494 Gene: ENSMUSG00000020185 AA Change: Y136H
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 |
unknown
Transcript: ENSMUST00000173948
AA Change: Y21H
|
SMART Domains |
Protein: ENSMUSP00000134039 Gene: ENSMUSG00000020185 AA Change: Y21H
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174857
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (58/58) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
T |
A |
3: 59,843,701 (GRCm39) |
Y132N |
probably damaging |
Het |
Adam21 |
T |
C |
12: 81,605,594 (GRCm39) |
T723A |
probably damaging |
Het |
Alox5 |
C |
T |
6: 116,397,219 (GRCm39) |
V322I |
probably benign |
Het |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,776,096 (GRCm39) |
K1482* |
probably null |
Het |
Cacna1e |
A |
C |
1: 154,319,727 (GRCm39) |
D1324E |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,392,213 (GRCm39) |
D657G |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,863,028 (GRCm39) |
S1335P |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,660,048 (GRCm39) |
K621N |
probably damaging |
Het |
Cspg5 |
A |
G |
9: 110,085,245 (GRCm39) |
D391G |
probably damaging |
Het |
Defa30 |
A |
T |
8: 21,624,821 (GRCm39) |
D48V |
possibly damaging |
Het |
Fam3d |
A |
G |
14: 8,349,314 (GRCm38) |
L212P |
probably damaging |
Het |
Fbxw25 |
A |
T |
9: 109,491,153 (GRCm39) |
C122S |
probably damaging |
Het |
Fgg |
A |
T |
3: 82,920,250 (GRCm39) |
D343V |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,922,700 (GRCm38) |
M1712K |
probably benign |
Het |
Fnbp4 |
T |
C |
2: 90,588,683 (GRCm39) |
S485P |
probably damaging |
Het |
Ftsj3 |
G |
A |
11: 106,144,502 (GRCm39) |
A134V |
probably benign |
Het |
Gast |
C |
A |
11: 100,227,373 (GRCm39) |
S22Y |
probably damaging |
Het |
Gm20834 |
T |
A |
Y: 10,322,962 (GRCm39) |
H158L |
possibly damaging |
Het |
Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Impg2 |
C |
T |
16: 56,080,527 (GRCm39) |
T777I |
probably damaging |
Het |
Kif11 |
C |
A |
19: 37,399,883 (GRCm39) |
T790K |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,703,802 (GRCm39) |
D264G |
probably benign |
Het |
Nipsnap3a |
T |
C |
4: 52,995,979 (GRCm39) |
|
probably null |
Het |
Or10al3 |
G |
T |
17: 38,011,790 (GRCm39) |
E76D |
probably damaging |
Het |
Or5w14 |
G |
A |
2: 87,542,229 (GRCm39) |
S7F |
possibly damaging |
Het |
P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
Pcdhga4 |
C |
T |
18: 37,820,664 (GRCm39) |
H738Y |
probably damaging |
Het |
Prickle2 |
A |
T |
6: 92,388,490 (GRCm39) |
I304K |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,444,225 (GRCm39) |
Y1460N |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,833,735 (GRCm39) |
D812G |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,278,427 (GRCm39) |
T737A |
possibly damaging |
Het |
Rbsn |
G |
A |
6: 92,184,029 (GRCm39) |
L95F |
possibly damaging |
Het |
Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,486,068 (GRCm39) |
N541K |
probably benign |
Het |
Scube3 |
G |
A |
17: 28,383,283 (GRCm39) |
G442S |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Smarcc1 |
A |
G |
9: 110,025,324 (GRCm39) |
D667G |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,193,113 (GRCm39) |
|
probably null |
Het |
Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
Sun3 |
A |
G |
11: 8,966,328 (GRCm39) |
V231A |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,499,910 (GRCm39) |
D108E |
probably benign |
Het |
Xdh |
A |
G |
17: 74,222,685 (GRCm39) |
V560A |
probably benign |
Het |
Zfp352 |
T |
A |
4: 90,112,071 (GRCm39) |
H70Q |
possibly damaging |
Het |
Zfp40 |
C |
A |
17: 23,396,164 (GRCm39) |
C73F |
probably benign |
Het |
Zfp975 |
A |
C |
7: 42,311,251 (GRCm39) |
L454R |
probably damaging |
Het |
Zik1 |
A |
T |
7: 10,224,268 (GRCm39) |
C276* |
probably null |
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 |
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'- ACAGCTTAGTCCAGAGAAGATAAC -3'
(R):5'- AATGAGAGTGCTTGGTGCCC -3'
Sequencing Primer
(F):5'- CTTAGTCCAGAGAAGATAACAGGAAG -3'
(R):5'- AGGTAACCAGCTTCCCGC -3'
|
Posted On |
2015-07-07 |