Incidental Mutation 'R6107:E2f8'
ID |
485557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
E2f8
|
Ensembl Gene |
ENSMUSG00000046179 |
Gene Name |
E2F transcription factor 8 |
Synonyms |
4432406C08Rik |
MMRRC Submission |
044257-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6107 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
48516177-48531344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48517424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 793
(V793A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112883
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058745]
[ENSMUST00000119223]
|
AlphaFold |
Q58FA4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058745
AA Change: V793A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000056778 Gene: ENSMUSG00000046179 AA Change: V793A
Domain | Start | End | E-Value | Type |
E2F_TDP
|
113 |
182 |
4.25e-29 |
SMART |
E2F_TDP
|
261 |
347 |
2.26e-33 |
SMART |
low complexity region
|
819 |
832 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119223
AA Change: V793A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000112883 Gene: ENSMUSG00000046179 AA Change: V793A
Domain | Start | End | E-Value | Type |
Pfam:E2F_TDP
|
113 |
182 |
8.9e-24 |
PFAM |
Pfam:E2F_TDP
|
261 |
347 |
3e-21 |
PFAM |
low complexity region
|
819 |
832 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151139
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] PHENOTYPE: Mice homozygous for a knock-out allele develop normally through puberty and live to old age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgrl3 |
A |
G |
5: 81,836,410 (GRCm39) |
R723G |
probably damaging |
Het |
Ankrd52 |
C |
A |
10: 128,222,881 (GRCm39) |
N610K |
probably benign |
Het |
Atp2a3 |
A |
G |
11: 72,879,287 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
G |
A |
11: 120,163,714 (GRCm39) |
A671T |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,769,471 (GRCm39) |
Y1764* |
probably null |
Het |
Erbin |
A |
G |
13: 103,970,400 (GRCm39) |
I1072T |
probably benign |
Het |
Exoc2 |
T |
C |
13: 31,060,780 (GRCm39) |
I575V |
probably benign |
Het |
Fbxw19 |
C |
T |
9: 109,324,834 (GRCm39) |
V28M |
probably damaging |
Het |
Flt1 |
G |
A |
5: 147,540,403 (GRCm39) |
T762M |
probably benign |
Het |
Ghitm |
C |
A |
14: 36,847,166 (GRCm39) |
A303S |
probably damaging |
Het |
Gm18856 |
T |
A |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
Gm5493 |
T |
A |
17: 22,967,069 (GRCm39) |
H68Q |
possibly damaging |
Het |
Hells |
T |
G |
19: 38,942,093 (GRCm39) |
I461S |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,416,829 (GRCm39) |
I450N |
probably damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,553 (GRCm39) |
V353D |
probably damaging |
Het |
Kifap3 |
A |
T |
1: 163,696,338 (GRCm39) |
T656S |
possibly damaging |
Het |
Med23 |
A |
T |
10: 24,781,932 (GRCm39) |
K713* |
probably null |
Het |
Miga1 |
A |
T |
3: 152,041,036 (GRCm39) |
F44I |
probably benign |
Het |
Ngrn |
A |
G |
7: 79,911,625 (GRCm39) |
E74G |
probably damaging |
Het |
Or4k40 |
T |
C |
2: 111,251,000 (GRCm39) |
S99G |
probably benign |
Het |
Patl2 |
A |
T |
2: 121,957,967 (GRCm39) |
L97Q |
probably damaging |
Het |
Pcdha1 |
A |
G |
18: 37,065,354 (GRCm39) |
I673V |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,275,967 (GRCm39) |
T543A |
probably benign |
Het |
Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
Prl8a8 |
A |
G |
13: 27,695,447 (GRCm39) |
V100A |
possibly damaging |
Het |
Rnase10 |
T |
A |
14: 51,246,751 (GRCm39) |
V43E |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,780,717 (GRCm39) |
S816G |
probably benign |
Het |
Slc25a34 |
C |
T |
4: 141,350,806 (GRCm39) |
V68M |
probably benign |
Het |
Slc25a48 |
A |
T |
13: 56,612,891 (GRCm39) |
E263V |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,311,759 (GRCm39) |
V87A |
probably damaging |
Het |
Slc8b1 |
A |
G |
5: 120,667,665 (GRCm39) |
I433V |
probably damaging |
Het |
Smurf1 |
A |
G |
5: 144,831,314 (GRCm39) |
V259A |
possibly damaging |
Het |
Spag6l |
T |
A |
16: 16,599,652 (GRCm39) |
N270I |
possibly damaging |
Het |
Tas2r113 |
G |
A |
6: 132,869,977 (GRCm39) |
V2M |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,780,104 (GRCm39) |
V680A |
probably damaging |
Het |
Ttyh3 |
A |
C |
5: 140,619,317 (GRCm39) |
|
probably null |
Het |
Ufl1 |
A |
G |
4: 25,251,999 (GRCm39) |
S639P |
possibly damaging |
Het |
Znfx1 |
A |
T |
2: 166,879,001 (GRCm39) |
F928I |
possibly damaging |
Het |
|
Other mutations in E2f8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00832:E2f8
|
APN |
7 |
48,517,951 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01121:E2f8
|
APN |
7 |
48,517,569 (GRCm39) |
nonsense |
probably null |
|
IGL01351:E2f8
|
APN |
7 |
48,516,899 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01592:E2f8
|
APN |
7 |
48,517,605 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01730:E2f8
|
APN |
7 |
48,527,682 (GRCm39) |
splice site |
probably benign |
|
IGL02708:E2f8
|
APN |
7 |
48,516,982 (GRCm39) |
splice site |
probably null |
|
R0535:E2f8
|
UTSW |
7 |
48,521,558 (GRCm39) |
splice site |
probably benign |
|
R1356:E2f8
|
UTSW |
7 |
48,530,018 (GRCm39) |
splice site |
probably benign |
|
R1902:E2f8
|
UTSW |
7 |
48,520,920 (GRCm39) |
missense |
probably benign |
0.32 |
R1989:E2f8
|
UTSW |
7 |
48,523,028 (GRCm39) |
missense |
probably benign |
0.30 |
R2109:E2f8
|
UTSW |
7 |
48,524,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R4126:E2f8
|
UTSW |
7 |
48,525,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R4384:E2f8
|
UTSW |
7 |
48,516,847 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4817:E2f8
|
UTSW |
7 |
48,517,494 (GRCm39) |
missense |
probably benign |
|
R4939:E2f8
|
UTSW |
7 |
48,521,886 (GRCm39) |
missense |
probably benign |
0.02 |
R4979:E2f8
|
UTSW |
7 |
48,524,918 (GRCm39) |
intron |
probably benign |
|
R5274:E2f8
|
UTSW |
7 |
48,516,925 (GRCm39) |
missense |
probably damaging |
0.97 |
R5624:E2f8
|
UTSW |
7 |
48,527,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:E2f8
|
UTSW |
7 |
48,516,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R5940:E2f8
|
UTSW |
7 |
48,520,825 (GRCm39) |
missense |
probably benign |
0.03 |
R5988:E2f8
|
UTSW |
7 |
48,524,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R6003:E2f8
|
UTSW |
7 |
48,520,525 (GRCm39) |
missense |
probably benign |
|
R6816:E2f8
|
UTSW |
7 |
48,525,331 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7329:E2f8
|
UTSW |
7 |
48,521,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7343:E2f8
|
UTSW |
7 |
48,517,713 (GRCm39) |
missense |
probably damaging |
0.97 |
R7444:E2f8
|
UTSW |
7 |
48,517,927 (GRCm39) |
missense |
probably damaging |
0.98 |
R7474:E2f8
|
UTSW |
7 |
48,525,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R7793:E2f8
|
UTSW |
7 |
48,527,823 (GRCm39) |
missense |
probably benign |
0.00 |
R8381:E2f8
|
UTSW |
7 |
48,527,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R9553:E2f8
|
UTSW |
7 |
48,528,394 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:E2f8
|
UTSW |
7 |
48,525,294 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTGCCCTCAGTCATTCAC -3'
(R):5'- CGTAAACTTTACCCTGCAGCAC -3'
Sequencing Primer
(F):5'- AATTAATTCCCTCTCCGATGAAGG -3'
(R):5'- TGCAGCACTTGGGACTCATC -3'
|
Posted On |
2017-08-16 |