Incidental Mutation 'R8381:E2f8'
| ID |
646945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f8
|
| Ensembl Gene |
ENSMUSG00000046179 |
| Gene Name |
E2F transcription factor 8 |
| Synonyms |
4432406C08Rik |
| MMRRC Submission |
067748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
48516177-48531344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48527710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 144
(D144G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058745]
[ENSMUST00000119223]
|
| AlphaFold |
Q58FA4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058745
AA Change: D144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056778
Gene: ENSMUSG00000046179
AA Change: D144G
| 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 damaging
Transcript: ENSMUST00000119223
AA Change: D144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112883
Gene: ENSMUSG00000046179
AA Change: D144G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
T |
3: 137,879,282 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
| Adam34 |
A |
G |
8: 44,104,847 (GRCm39) |
I266T |
possibly damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,302,952 (GRCm39) |
N2507S |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,177,470 (GRCm39) |
S346P |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,728,114 (GRCm39) |
F270S |
probably benign |
Het |
| Fnip2 |
T |
A |
3: 79,373,000 (GRCm39) |
D1026V |
probably damaging |
Het |
| Fubp3 |
G |
A |
2: 31,482,509 (GRCm39) |
|
probably null |
Het |
| Gjb6 |
T |
C |
14: 57,361,919 (GRCm39) |
E114G |
probably benign |
Het |
| Gpr160 |
A |
G |
3: 30,949,930 (GRCm39) |
M1V |
probably null |
Het |
| Hey2 |
A |
G |
10: 30,709,986 (GRCm39) |
S256P |
probably damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,337,920 (GRCm39) |
H590Q |
probably damaging |
Het |
| Ice2 |
T |
A |
9: 69,317,453 (GRCm39) |
H192Q |
probably damaging |
Het |
| Ighv1-20 |
T |
A |
12: 114,687,501 (GRCm39) |
Q81L |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,325 (GRCm39) |
H51L |
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,895 (GRCm39) |
V218E |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,438,991 (GRCm39) |
D1190G |
probably benign |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Mettl14 |
A |
G |
3: 123,168,447 (GRCm39) |
Y198H |
probably damaging |
Het |
| Nlrp6 |
C |
T |
7: 140,503,754 (GRCm39) |
A620V |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,146 (GRCm39) |
F164L |
|
Het |
| Or5h22 |
A |
G |
16: 58,895,225 (GRCm39) |
S73P |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,808,373 (GRCm39) |
I256V |
probably benign |
Het |
| Pcbp4 |
G |
A |
9: 106,338,488 (GRCm39) |
A138T |
probably damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,531,881 (GRCm39) |
T255I |
probably damaging |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Robo3 |
T |
A |
9: 37,341,056 (GRCm39) |
D72V |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,360,716 (GRCm39) |
S300G |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,822,566 (GRCm39) |
R670W |
probably damaging |
Het |
| Smok3c |
C |
T |
5: 138,063,824 (GRCm39) |
T437I |
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,672,333 (GRCm39) |
I931V |
probably benign |
Het |
| Syk |
T |
C |
13: 52,787,085 (GRCm39) |
Y383H |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,225,972 (GRCm39) |
S886T |
probably benign |
Het |
| Top1 |
A |
G |
2: 160,545,594 (GRCm39) |
M321V |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,132,166 (GRCm39) |
L598P |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,219,456 (GRCm39) |
I648L |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,447,676 (GRCm39) |
K1126T |
probably benign |
Het |
| Zfp729b |
T |
C |
13: 67,739,617 (GRCm39) |
T883A |
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 |
|
|
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 |
|
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'- TCCAAGACCGAGTTATGCTC -3'
(R):5'- TAGTCATCTAGCACAGAGGCCC -3'
Sequencing Primer
(F):5'- CTCAAATTAACAGGACTTGTGAGGC -3'
(R):5'- GTCATGCTCTATTCCAGAATGAGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation