Incidental Mutation 'IGL02683:E2f7'
ID |
303433 |
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: 0.204)
|
Stock # |
IGL02683
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
110581300-110623245 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110618320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 795
(M795T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073781]
[ENSMUST00000173471]
|
AlphaFold |
Q6S7F2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073781
AA Change: M795T
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000073453 Gene: ENSMUSG00000020185 AA Change: M795T
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 |
probably benign
Transcript: ENSMUST00000173471
AA Change: M795T
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133494 Gene: ENSMUSG00000020185 AA Change: M795T
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 |
noncoding transcript
Transcript: ENSMUST00000188776
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,779,163 (GRCm39) |
|
probably benign |
Het |
Abhd3 |
A |
G |
18: 10,658,790 (GRCm39) |
S215P |
probably damaging |
Het |
Adam20 |
G |
A |
8: 41,248,621 (GRCm39) |
V244M |
probably damaging |
Het |
Akr1c21 |
A |
C |
13: 4,626,312 (GRCm39) |
D112A |
probably damaging |
Het |
Ano6 |
A |
T |
15: 95,846,193 (GRCm39) |
Y498F |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,592,052 (GRCm39) |
F263S |
probably damaging |
Het |
Capn11 |
A |
G |
17: 45,964,517 (GRCm39) |
F100S |
probably damaging |
Het |
Cd63 |
T |
C |
10: 128,746,299 (GRCm39) |
C9R |
probably damaging |
Het |
Cenpj |
T |
C |
14: 56,790,409 (GRCm39) |
K547E |
possibly damaging |
Het |
Clasp1 |
A |
G |
1: 118,466,996 (GRCm39) |
D793G |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
Crybg1 |
A |
G |
10: 43,865,212 (GRCm39) |
S1422P |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnal1 |
G |
A |
12: 84,185,128 (GRCm39) |
G178D |
probably damaging |
Het |
Glipr1l2 |
T |
C |
10: 111,919,381 (GRCm39) |
V34A |
probably benign |
Het |
Gsdmc2 |
C |
T |
15: 63,705,261 (GRCm39) |
V151M |
probably damaging |
Het |
Htr7 |
T |
C |
19: 35,937,762 (GRCm39) |
T448A |
probably benign |
Het |
Kcnj5 |
T |
C |
9: 32,229,076 (GRCm39) |
T41A |
possibly damaging |
Het |
Kcnt1 |
T |
C |
2: 25,790,937 (GRCm39) |
M12T |
possibly damaging |
Het |
Kif1c |
G |
A |
11: 70,617,278 (GRCm39) |
A871T |
possibly damaging |
Het |
Map3k10 |
T |
C |
7: 27,358,362 (GRCm39) |
K571R |
probably damaging |
Het |
Med23 |
C |
A |
10: 24,746,615 (GRCm39) |
A45E |
probably benign |
Het |
Nudt5 |
C |
A |
2: 5,868,412 (GRCm39) |
S103R |
probably damaging |
Het |
Or9m1 |
T |
A |
2: 87,733,448 (GRCm39) |
T191S |
possibly damaging |
Het |
Parp3 |
A |
G |
9: 106,350,384 (GRCm39) |
S369P |
possibly damaging |
Het |
Plxna4 |
A |
T |
6: 32,494,541 (GRCm39) |
L25Q |
probably benign |
Het |
Pon2 |
A |
G |
6: 5,269,062 (GRCm39) |
V204A |
probably damaging |
Het |
Ppfia1 |
A |
G |
7: 144,067,095 (GRCm39) |
M463T |
probably damaging |
Het |
Ppp1r14d |
T |
C |
2: 119,049,303 (GRCm39) |
E95G |
probably damaging |
Het |
Pramel18 |
T |
C |
4: 101,767,551 (GRCm39) |
S267P |
probably benign |
Het |
Prrc2a |
A |
G |
17: 35,374,969 (GRCm39) |
V1227A |
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,392,951 (GRCm39) |
W536R |
probably damaging |
Het |
Slco6d1 |
A |
G |
1: 98,408,397 (GRCm39) |
N431S |
probably benign |
Het |
Spen |
C |
T |
4: 141,198,956 (GRCm39) |
V3224I |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
Stat5b |
T |
G |
11: 100,695,772 (GRCm39) |
K70T |
probably benign |
Het |
Tex44 |
A |
G |
1: 86,355,465 (GRCm39) |
D458G |
probably benign |
Het |
Tut1 |
T |
A |
19: 8,942,622 (GRCm39) |
C570S |
probably benign |
Het |
Usp42 |
T |
C |
5: 143,701,101 (GRCm39) |
E974G |
possibly damaging |
Het |
Vezf1 |
A |
T |
11: 87,967,153 (GRCm39) |
Q310L |
probably benign |
Het |
Vmn2r83 |
A |
T |
10: 79,327,115 (GRCm39) |
R574S |
probably benign |
Het |
Zfp664 |
T |
C |
5: 124,963,386 (GRCm39) |
V260A |
probably benign |
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 |
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 |
2015-04-16 |