Incidental Mutation 'IGL01320:E2f7'
ID |
74013 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
E2f7
|
Ensembl Gene |
ENSMUSG00000020185 |
Gene Name |
E2F transcription factor 7 |
Synonyms |
D10Ertd739e, A630014C11Rik, E2F7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
IGL01320
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
110581300-110623245 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 110589954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 36
(V36I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073781]
[ENSMUST00000173471]
[ENSMUST00000173634]
[ENSMUST00000174857]
|
AlphaFold |
Q6S7F2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073781
AA Change: V36I
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000073453 Gene: ENSMUSG00000020185 AA Change: V36I
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 benign
Transcript: ENSMUST00000173471
AA Change: V36I
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000133494 Gene: ENSMUSG00000020185 AA Change: V36I
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 |
probably benign
Transcript: ENSMUST00000173634
AA Change: V36I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173948
|
SMART Domains |
Protein: ENSMUSP00000134039 Gene: ENSMUSG00000020185
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: ENSMUST00000174810
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174857
AA Change: V36I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
Coding Region Coverage |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly damaging |
Het |
|
Other mutations in E2f7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5520:E2f7
|
UTSW |
10 |
110,595,806 (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 |
|
Posted On |
2013-10-07 |