Incidental Mutation 'R5624:E2f8'
| ID |
441734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f8
|
| Ensembl Gene |
ENSMUSG00000046179 |
| Gene Name |
E2F transcription factor 8 |
| Synonyms |
4432406C08Rik |
| MMRRC Submission |
043163-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5624 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
48516177-48531344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 48527709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 144
(D144E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058745]
[ENSMUST00000119223]
|
| AlphaFold |
Q58FA4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058745
AA Change: D144E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056778
Gene: ENSMUSG00000046179
AA Change: D144E
| 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: D144E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112883
Gene: ENSMUSG00000046179
AA Change: D144E
| 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: ENSMUST00000151139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210463
|
| Meta Mutation Damage Score |
0.2130 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (47/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
T |
A |
8: 120,341,844 (GRCm39) |
|
probably null |
Het |
| Aoah |
A |
T |
13: 21,179,649 (GRCm39) |
N372I |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,916 (GRCm39) |
D1598E |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,080,577 (GRCm39) |
C72R |
probably benign |
Het |
| Car9 |
T |
A |
4: 43,509,146 (GRCm39) |
F238Y |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,749 (GRCm39) |
S97G |
probably benign |
Het |
| Cfap52 |
C |
G |
11: 67,818,184 (GRCm39) |
C509S |
possibly damaging |
Het |
| Clcn4 |
C |
A |
7: 7,291,943 (GRCm39) |
V623L |
probably benign |
Het |
| Dnajc11 |
T |
C |
4: 152,063,967 (GRCm39) |
V483A |
probably benign |
Het |
| Epb41l1 |
G |
A |
2: 156,375,691 (GRCm39) |
|
probably benign |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,213,268 (GRCm39) |
G117S |
unknown |
Het |
| Gsdmc4 |
A |
G |
15: 63,764,503 (GRCm39) |
M379T |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,208,727 (GRCm39) |
R157G |
probably benign |
Het |
| Il10 |
A |
G |
1: 130,951,940 (GRCm39) |
M158V |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,069,193 (GRCm39) |
M1656I |
probably damaging |
Het |
| Kit |
A |
T |
5: 75,770,054 (GRCm39) |
K155N |
probably benign |
Het |
| Lmtk3 |
C |
A |
7: 45,436,286 (GRCm39) |
A114E |
probably damaging |
Het |
| Lztr1 |
A |
G |
16: 17,329,993 (GRCm39) |
|
probably benign |
Het |
| Mras |
A |
G |
9: 99,293,538 (GRCm39) |
F34S |
probably damaging |
Het |
| Myo1c |
A |
G |
11: 75,553,461 (GRCm39) |
T516A |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,862,038 (GRCm39) |
V197G |
possibly damaging |
Het |
| Or13p5 |
T |
A |
4: 118,592,568 (GRCm39) |
Y281N |
probably damaging |
Het |
| Or8k39 |
T |
C |
2: 86,563,149 (GRCm39) |
D269G |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,459 (GRCm39) |
Y151F |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,488,262 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,107,382 (GRCm39) |
F892S |
probably damaging |
Het |
| Prmt3 |
T |
A |
7: 49,430,082 (GRCm39) |
F62I |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,659,523 (GRCm39) |
Y1999C |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,208,809 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Slc6a16 |
T |
G |
7: 44,910,532 (GRCm39) |
H352Q |
probably benign |
Het |
| Snx9 |
T |
A |
17: 5,942,084 (GRCm39) |
C70* |
probably null |
Het |
| Srprb |
A |
G |
9: 103,074,800 (GRCm39) |
I114T |
probably damaging |
Het |
| Tas2r119 |
A |
T |
15: 32,178,114 (GRCm39) |
I227F |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,634,996 (GRCm39) |
S604P |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,709,906 (GRCm39) |
Y163F |
probably benign |
Het |
| Tm2d2 |
A |
G |
8: 25,512,784 (GRCm39) |
T211A |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,710 (GRCm39) |
S83G |
probably benign |
Het |
| Trav9-4 |
T |
C |
14: 53,913,886 (GRCm39) |
S47P |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,325 (GRCm39) |
H174L |
probably damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,259,270 (GRCm39) |
D85G |
possibly damaging |
Het |
| Zfp106 |
C |
G |
2: 120,362,438 (GRCm39) |
A34P |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,344 (GRCm39) |
N865K |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,233,518 (GRCm39) |
D114G |
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 |
|
|
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 |
|
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'- TCCAAGACCGAGTTATGCTC -3'
(R):5'- AGTCATCTAGCACAGAGGCC -3'
Sequencing Primer
(F):5'- CTCAAATTAACAGGACTTGTGAGGC -3'
(R):5'- GTCATGCTCTATTCCAGAATGAGAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation