Incidental Mutation 'R5520:E2f7'
| ID |
431511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E2f7
|
| Ensembl Gene |
ENSMUSG00000020185 |
| Gene Name |
E2F transcription factor 7 |
| Synonyms |
D10Ertd739e, A630014C11Rik, E2F7 |
| MMRRC Submission |
043079-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R5520 (G1)
|
| Quality Score |
143 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
110581300-110623245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110595806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 167
(E167G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073781]
[ENSMUST00000173471]
[ENSMUST00000174857]
|
| AlphaFold |
Q6S7F2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073781
AA Change: E167G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185
AA Change: E167G
| Domain | Start | End | E-Value | Type |
|---|
|
E2F_TDP
|
143 |
212 |
1.12e-28 |
SMART |
|
E2F_TDP
|
283 |
368 |
1.28e-32 |
SMART |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
755 |
767 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172574
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173471
AA Change: E167G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185
AA Change: E167G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E2F_TDP
|
143 |
212 |
1.8e-23 |
PFAM |
|
Pfam:E2F_TDP
|
283 |
368 |
3.7e-24 |
PFAM |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
755 |
767 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173948
AA Change: E52G
|
| SMART Domains |
Protein: ENSMUSP00000134039
Gene: ENSMUSG00000020185
AA Change: E52G
| Domain | Start | End | E-Value | Type |
|---|
|
E2F_TDP
|
29 |
98 |
1.12e-28 |
SMART |
|
E2F_TDP
|
169 |
219 |
3.34e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174857
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.8%
- 20x: 88.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop normally through puberty and survive to old age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,594 (GRCm39) |
T186S |
probably benign |
Het |
| AI467606 |
C |
T |
7: 126,691,998 (GRCm39) |
P191L |
probably benign |
Het |
| Aoc1l1 |
C |
A |
6: 48,952,728 (GRCm39) |
Q218K |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,440 (GRCm39) |
V56A |
probably damaging |
Het |
| Cacng5 |
T |
C |
11: 107,768,248 (GRCm39) |
Q253R |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,483,556 (GRCm39) |
M331T |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,224,730 (GRCm39) |
K153* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,827,147 (GRCm39) |
S111P |
probably damaging |
Het |
| Edn1 |
T |
C |
13: 42,455,436 (GRCm39) |
|
probably null |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,589 (GRCm39) |
H257N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,146,414 (GRCm39) |
T22A |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,082,819 (GRCm39) |
M45K |
possibly damaging |
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,459,305 (GRCm39) |
D285E |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,624,105 (GRCm39) |
D625V |
possibly damaging |
Het |
| Igkv1-135 |
C |
T |
6: 67,587,324 (GRCm39) |
P65L |
possibly damaging |
Het |
| Lepr |
T |
C |
4: 101,602,734 (GRCm39) |
L174P |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,901,872 (GRCm39) |
S689G |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,064 (GRCm39) |
S165T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,284,367 (GRCm39) |
Y812H |
probably benign |
Het |
| Plxnb2 |
T |
G |
15: 89,051,746 (GRCm39) |
T158P |
possibly damaging |
Het |
| Pramel32 |
A |
C |
4: 88,548,277 (GRCm39) |
S43A |
probably damaging |
Het |
| R3hcc1 |
T |
A |
14: 69,936,057 (GRCm39) |
K437* |
probably null |
Het |
| Rnf213 |
C |
A |
11: 119,324,325 (GRCm39) |
H1428Q |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,646,509 (GRCm39) |
S79T |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,724,900 (GRCm39) |
N93K |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,143,066 (GRCm39) |
R548H |
probably benign |
Het |
| Trim23 |
C |
T |
13: 104,324,035 (GRCm39) |
R165C |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,698,970 (GRCm39) |
T405P |
probably damaging |
Het |
| Unkl |
G |
A |
17: 25,424,584 (GRCm39) |
V204I |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,728 (GRCm39) |
T253A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,887 (GRCm39) |
I261V |
possibly damaging |
Het |
|
| Other mutations in E2f7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01320:E2f7
|
APN |
10 |
110,589,954 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01592:E2f7
|
APN |
10 |
110,582,267 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01614:E2f7
|
APN |
10 |
110,595,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01829:E2f7
|
APN |
10 |
110,614,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01843:E2f7
|
APN |
10 |
110,610,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02683:E2f7
|
APN |
10 |
110,618,320 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03229:E2f7
|
APN |
10 |
110,590,207 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0245:E2f7
|
UTSW |
10 |
110,610,656 (GRCm39) |
nonsense |
probably null |
|
|
R2108:E2f7
|
UTSW |
10 |
110,616,763 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2259:E2f7
|
UTSW |
10 |
110,582,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3408:E2f7
|
UTSW |
10 |
110,620,578 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4356:E2f7
|
UTSW |
10 |
110,595,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4542:E2f7
|
UTSW |
10 |
110,602,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:E2f7
|
UTSW |
10 |
110,616,710 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5236:E2f7
|
UTSW |
10 |
110,603,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:E2f7
|
UTSW |
10 |
110,610,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7253:E2f7
|
UTSW |
10 |
110,602,164 (GRCm39) |
splice site |
probably null |
|
|
R7320:E2f7
|
UTSW |
10 |
110,599,991 (GRCm39) |
missense |
not run |
|
|
R7348:E2f7
|
UTSW |
10 |
110,616,836 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8219:E2f7
|
UTSW |
10 |
110,595,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8530:E2f7
|
UTSW |
10 |
110,614,859 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8887:E2f7
|
UTSW |
10 |
110,610,674 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8958:E2f7
|
UTSW |
10 |
110,601,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9092:E2f7
|
UTSW |
10 |
110,616,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9166:E2f7
|
UTSW |
10 |
110,618,085 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9192:E2f7
|
UTSW |
10 |
110,599,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9454:E2f7
|
UTSW |
10 |
110,620,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9474:E2f7
|
UTSW |
10 |
110,614,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9474:E2f7
|
UTSW |
10 |
110,603,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9538:E2f7
|
UTSW |
10 |
110,616,628 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGACCATGACTTCTCCC -3'
(R):5'- TCCCTTGGATTCTATGAAGGGAG -3'
Sequencing Primer
(F):5'- GACCATGACTTCTCCCCGTTC -3'
(R):5'- ATGATGGTGGAGGCAGCTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation