Incidental Mutation 'IGL01351:E2f8'
ID |
75341 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
E2f8
|
Ensembl Gene |
ENSMUSG00000046179 |
Gene Name |
E2F transcription factor 8 |
Synonyms |
4432406C08Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01351
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
48516177-48531344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48516899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 827
(T827A)
|
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: T827A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000056778 Gene: ENSMUSG00000046179 AA Change: T827A
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: T827A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000112883 Gene: ENSMUSG00000046179 AA Change: T827A
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,217,565 (GRCm39) |
S336P |
probably benign |
Het |
Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,466,011 (GRCm39) |
Q1165R |
probably damaging |
Het |
Angel2 |
C |
A |
1: 190,665,310 (GRCm39) |
N80K |
probably benign |
Het |
Bmp6 |
T |
C |
13: 38,653,610 (GRCm39) |
S226P |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,383,311 (GRCm39) |
T229A |
probably benign |
Het |
Cdh12 |
G |
A |
15: 21,237,989 (GRCm39) |
V75M |
probably damaging |
Het |
Cdh6 |
G |
T |
15: 13,034,326 (GRCm39) |
A778E |
possibly damaging |
Het |
Corin |
A |
T |
5: 72,496,334 (GRCm39) |
C540S |
probably damaging |
Het |
Cyfip1 |
C |
A |
7: 55,547,991 (GRCm39) |
Y530* |
probably null |
Het |
Dock10 |
T |
G |
1: 80,570,876 (GRCm39) |
K327N |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,426,840 (GRCm39) |
|
probably benign |
Het |
Edem3 |
T |
C |
1: 151,668,136 (GRCm39) |
V305A |
possibly damaging |
Het |
Fam170a |
T |
C |
18: 50,414,845 (GRCm39) |
W164R |
probably benign |
Het |
Fbxw14 |
T |
C |
9: 109,103,640 (GRCm39) |
D24G |
possibly damaging |
Het |
Gnmt |
T |
C |
17: 47,037,606 (GRCm39) |
D124G |
probably benign |
Het |
Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
Gsdmd |
T |
A |
15: 75,736,186 (GRCm39) |
I105N |
probably damaging |
Het |
Hps5 |
C |
T |
7: 46,410,856 (GRCm39) |
M1113I |
probably damaging |
Het |
Hyal6 |
T |
C |
6: 24,734,178 (GRCm39) |
F37S |
probably damaging |
Het |
Il17c |
C |
T |
8: 123,148,862 (GRCm39) |
T2I |
probably benign |
Het |
Lyz1 |
A |
G |
10: 117,127,093 (GRCm39) |
C48R |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,946 (GRCm39) |
|
probably benign |
Het |
Pafah1b3 |
G |
A |
7: 24,994,570 (GRCm39) |
R215C |
possibly damaging |
Het |
Psmb4 |
A |
T |
3: 94,793,538 (GRCm39) |
|
probably null |
Het |
Rnf213 |
T |
C |
11: 119,373,944 (GRCm39) |
V5009A |
probably benign |
Het |
Sema6a |
T |
C |
18: 47,414,369 (GRCm39) |
K494E |
possibly damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,491,777 (GRCm39) |
V17A |
probably benign |
Het |
Speg |
T |
A |
1: 75,387,920 (GRCm39) |
|
probably benign |
Het |
Spint1 |
A |
G |
2: 119,076,936 (GRCm39) |
D340G |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,186,258 (GRCm39) |
E819G |
probably benign |
Het |
Tctn3 |
T |
C |
19: 40,596,081 (GRCm39) |
I309V |
probably benign |
Het |
Tex19.1 |
T |
A |
11: 121,038,072 (GRCm39) |
D143E |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,548 (GRCm39) |
I369V |
probably benign |
Het |
Tm2d2 |
A |
G |
8: 25,510,573 (GRCm39) |
|
probably benign |
Het |
Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,466,196 (GRCm39) |
Y2118C |
probably damaging |
Het |
Zmynd15 |
C |
A |
11: 70,354,416 (GRCm39) |
N425K |
probably benign |
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 |
|
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 |
|
R6107:E2f8
|
UTSW |
7 |
48,517,424 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Posted On |
2013-10-07 |