Incidental Mutation 'R1356:E2f8'
| ID |
156323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f8
|
| Ensembl Gene |
ENSMUSG00000046179 |
| Gene Name |
E2F transcription factor 8 |
| Synonyms |
4432406C08Rik |
| MMRRC Submission |
039421-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1356 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
48516177-48531344 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 48530018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058745]
[ENSMUST00000119223]
|
| AlphaFold |
Q58FA4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058745
|
| SMART Domains |
Protein: ENSMUSP00000056778
Gene: ENSMUSG00000046179
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112883
Gene: ENSMUSG00000046179
| 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: ENSMUST00000129551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210463
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (34/34) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,342,112 (GRCm39) |
|
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,158,611 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
C |
A |
19: 29,350,970 (GRCm39) |
T22K |
possibly damaging |
Het |
| Cfap45 |
G |
A |
1: 172,355,430 (GRCm39) |
R26Q |
possibly damaging |
Het |
| Dvl3 |
AGCGGCGGCGGCGG |
AGCGGCGGCGG |
16: 20,343,055 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
A |
G |
16: 12,943,146 (GRCm39) |
H255R |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,960,928 (GRCm39) |
D234N |
probably damaging |
Het |
| Foxp1 |
A |
T |
6: 98,993,637 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,820,089 (GRCm39) |
V5274D |
probably benign |
Het |
| Gm21718 |
A |
G |
14: 51,554,104 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr85 |
G |
A |
6: 13,836,146 (GRCm39) |
P253S |
probably benign |
Het |
| Grm7 |
A |
T |
6: 111,335,985 (GRCm39) |
I799F |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,836,215 (GRCm39) |
F84L |
possibly damaging |
Het |
| Kprp |
T |
A |
3: 92,732,909 (GRCm39) |
E47V |
probably damaging |
Het |
| Krt9 |
CTGC |
CTGCNNNNNNNNNNNNNNNNNNNNNTGC |
11: 100,079,640 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,633,634 (GRCm39) |
|
probably benign |
Het |
| Lurap1l |
C |
G |
4: 80,829,767 (GRCm39) |
A59G |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,290 (GRCm39) |
T353S |
probably benign |
Het |
| Mctp2 |
A |
G |
7: 71,814,471 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,700,334 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
A |
19: 12,438,689 (GRCm39) |
V49D |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,843,629 (GRCm39) |
P859S |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Parn |
A |
T |
16: 13,468,538 (GRCm39) |
Y214* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,374,632 (GRCm39) |
E357G |
possibly damaging |
Het |
| Prex2 |
C |
T |
1: 11,150,316 (GRCm39) |
Q163* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,189,681 (GRCm39) |
S294T |
probably benign |
Het |
| Slc46a1 |
A |
G |
11: 78,361,550 (GRCm39) |
N399D |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,720 (GRCm39) |
F213S |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,446 (GRCm39) |
E1967G |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,218 (GRCm39) |
*866Q |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCATTTGGAGGCCCAGTAG -3'
(R):5'- TCGAACCTGAGAGAGGACTGTCAC -3'
Sequencing Primer
(F):5'- GGTTACTTTAACCCTGGACAAC -3'
(R):5'- AGGCAATGTCTGTCCTCAAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation