Incidental Mutation 'IGL02708:E2f8'
| ID |
304462 |
| 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 # |
IGL02708
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48516177-48531344 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 48516982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058745]
[ENSMUST00000058745]
[ENSMUST00000058745]
[ENSMUST00000119223]
[ENSMUST00000119223]
[ENSMUST00000119223]
|
| AlphaFold |
Q58FA4 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 |
probably null
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 |
probably null
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: 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,738,213 (GRCm39) |
V1104D |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,532,161 (GRCm39) |
V1024E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,686 (GRCm39) |
H348R |
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,574,354 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,495,379 (GRCm39) |
|
probably benign |
Het |
| Avpr1b |
A |
G |
1: 131,528,389 (GRCm39) |
D304G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,156,498 (GRCm39) |
D475G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,173,211 (GRCm39) |
I2501F |
probably damaging |
Het |
| Gm4181 |
A |
G |
14: 51,870,689 (GRCm39) |
C91R |
probably benign |
Het |
| Gm5424 |
T |
A |
10: 61,907,390 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai3 |
A |
G |
3: 108,025,660 (GRCm39) |
F140L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,563,765 (GRCm39) |
D212V |
probably damaging |
Het |
| Irgm2 |
T |
C |
11: 58,111,350 (GRCm39) |
V347A |
probably benign |
Het |
| Itch |
A |
G |
2: 155,015,964 (GRCm39) |
T150A |
probably benign |
Het |
| Itgb3 |
A |
C |
11: 104,528,655 (GRCm39) |
I261L |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,212,420 (GRCm39) |
V31M |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,203,463 (GRCm39) |
C181Y |
probably damaging |
Het |
| Klrb1 |
A |
G |
6: 128,690,548 (GRCm39) |
L58S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,481,097 (GRCm39) |
E61G |
probably damaging |
Het |
| Krt78 |
T |
A |
15: 101,861,842 (GRCm39) |
T135S |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,202,808 (GRCm39) |
|
probably null |
Het |
| Mphosph6 |
A |
G |
8: 118,519,525 (GRCm39) |
|
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,790,222 (GRCm39) |
S393P |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,027 (GRCm39) |
|
probably benign |
Het |
| Or8g53 |
T |
C |
9: 39,683,214 (GRCm39) |
N294S |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,988 (GRCm39) |
Y316C |
probably damaging |
Het |
| Pkp3 |
A |
T |
7: 140,669,681 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
| Psmb8 |
A |
G |
17: 34,420,217 (GRCm39) |
K270E |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,488,561 (GRCm39) |
N959D |
probably damaging |
Het |
| Rab6b |
T |
G |
9: 103,038,074 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
T |
C |
13: 76,065,843 (GRCm39) |
D180G |
probably damaging |
Het |
| Sccpdh |
G |
A |
1: 179,508,074 (GRCm39) |
C238Y |
probably benign |
Het |
| Srm |
C |
T |
4: 148,677,803 (GRCm39) |
S147L |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,788,350 (GRCm39) |
S173T |
probably damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,112,797 (GRCm39) |
E752G |
possibly damaging |
Het |
| Tmem151a |
G |
T |
19: 5,132,875 (GRCm39) |
Y110* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,556,957 (GRCm39) |
V30016A |
probably damaging |
Het |
| Txnrd2 |
A |
G |
16: 18,287,590 (GRCm39) |
E331G |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,215,485 (GRCm39) |
C161R |
possibly damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,415 (GRCm39) |
S111R |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,796 (GRCm39) |
I407F |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,854,850 (GRCm39) |
M2258V |
probably benign |
Het |
| Ypel1 |
A |
T |
16: 16,923,872 (GRCm39) |
V59D |
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 |
|
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation