Incidental Mutation 'R5537:Eapp'
| ID |
434891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eapp
|
| Ensembl Gene |
ENSMUSG00000054302 |
| Gene Name |
E2F-associated phosphoprotein |
| Synonyms |
1810011O16Rik, EAPP |
| MMRRC Submission |
043095-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R5537 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
54717125-54742682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54738844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 98
(T98I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067272]
[ENSMUST00000110713]
[ENSMUST00000160085]
[ENSMUST00000161592]
[ENSMUST00000162106]
[ENSMUST00000163433]
|
| AlphaFold |
Q5BU09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067272
|
| SMART Domains |
Protein: ENSMUSP00000069381
Gene: ENSMUSG00000054302
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110713
AA Change: T98I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106341
Gene: ENSMUSG00000054302
AA Change: T98I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
125 |
N/A |
INTRINSIC |
|
Pfam:Eapp_C
|
153 |
241 |
1.1e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160085
AA Change: T98I
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124699
Gene: ENSMUSG00000054302
AA Change: T98I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161592
AA Change: T98I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123698
Gene: ENSMUSG00000054302
AA Change: T98I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
125 |
N/A |
INTRINSIC |
|
Pfam:Eapp_C
|
136 |
279 |
5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162106
AA Change: T94I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000124232
Gene: ENSMUSG00000054302
AA Change: T94I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163433
AA Change: T98I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000130251
Gene: ENSMUSG00000054302
AA Change: T98I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
125 |
N/A |
INTRINSIC |
|
Pfam:Eapp_C
|
136 |
279 |
5.8e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179621
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 9,005,485 (GRCm39) |
I1123F |
probably damaging |
Het |
| Acsl3 |
C |
T |
1: 78,684,073 (GRCm39) |
R702C |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,604,892 (GRCm39) |
E1031G |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,397,361 (GRCm39) |
S536P |
probably damaging |
Het |
| Arfgef2 |
G |
T |
2: 166,698,513 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
G |
T |
2: 118,746,461 (GRCm39) |
D27Y |
probably damaging |
Het |
| Brinp2 |
C |
T |
1: 158,082,583 (GRCm39) |
V246I |
probably damaging |
Het |
| Ccdc187 |
C |
A |
2: 26,166,237 (GRCm39) |
A731S |
probably benign |
Het |
| Cdc37l1 |
T |
A |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cdk5r1 |
A |
G |
11: 80,368,825 (GRCm39) |
Y164C |
probably damaging |
Het |
| Clrn3 |
A |
T |
7: 135,115,791 (GRCm39) |
H186Q |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,606,872 (GRCm39) |
T517I |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,959 (GRCm39) |
S2362L |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,389,603 (GRCm39) |
|
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,713 (GRCm39) |
V55A |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,292,594 (GRCm39) |
D432G |
probably benign |
Het |
| Mrgprx1 |
T |
A |
7: 47,670,898 (GRCm39) |
H283L |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,019,914 (GRCm39) |
F134L |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,523 (GRCm39) |
K225R |
probably benign |
Het |
| Or4f14b |
A |
T |
2: 111,775,393 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,570 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Or8b43 |
T |
A |
9: 38,360,538 (GRCm39) |
Y123* |
probably null |
Het |
| Pfkp |
C |
A |
13: 6,669,278 (GRCm39) |
W235L |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,158,118 (GRCm39) |
|
probably null |
Het |
| Psma5-ps |
A |
G |
10: 85,149,913 (GRCm39) |
|
noncoding transcript |
Het |
| Rab14 |
A |
T |
2: 35,082,649 (GRCm39) |
F12L |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,195,261 (GRCm39) |
I429N |
probably benign |
Het |
| S100pbp |
G |
A |
4: 129,075,981 (GRCm39) |
P115S |
probably benign |
Het |
| Scarf1 |
G |
A |
11: 75,416,357 (GRCm39) |
A600T |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,609,059 (GRCm39) |
F755L |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,367,023 (GRCm39) |
I510F |
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,866,175 (GRCm39) |
S5P |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,061,641 (GRCm39) |
Y631C |
probably damaging |
Het |
| Tmem182 |
A |
T |
1: 40,894,069 (GRCm39) |
I195F |
probably benign |
Het |
| Tox |
A |
G |
4: 6,697,510 (GRCm39) |
L431P |
probably damaging |
Het |
| Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
| Tsg101 |
T |
C |
7: 46,540,876 (GRCm39) |
K294E |
probably benign |
Het |
| Tubb2a |
C |
A |
13: 34,259,434 (GRCm39) |
V119L |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,103,256 (GRCm39) |
E129K |
possibly damaging |
Het |
| Zfp974 |
TAATCTGTCTCCAAATCTG |
TAATCTG |
7: 27,611,671 (GRCm39) |
|
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,054,003 (GRCm39) |
V263A |
possibly damaging |
Het |
|
| Other mutations in Eapp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Eapp
|
APN |
12 |
54,739,593 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01964:Eapp
|
APN |
12 |
54,732,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02591:Eapp
|
APN |
12 |
54,739,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03323:Eapp
|
APN |
12 |
54,720,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Eapp
|
APN |
12 |
54,738,878 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0599:Eapp
|
UTSW |
12 |
54,732,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0939:Eapp
|
UTSW |
12 |
54,732,734 (GRCm39) |
small deletion |
probably benign |
|
|
R1583:Eapp
|
UTSW |
12 |
54,732,733 (GRCm39) |
nonsense |
probably null |
|
|
R1646:Eapp
|
UTSW |
12 |
54,732,745 (GRCm39) |
nonsense |
probably null |
|
|
R1935:Eapp
|
UTSW |
12 |
54,720,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1936:Eapp
|
UTSW |
12 |
54,720,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5303:Eapp
|
UTSW |
12 |
54,739,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7638:Eapp
|
UTSW |
12 |
54,720,508 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8041:Eapp
|
UTSW |
12 |
54,739,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Eapp
|
UTSW |
12 |
54,739,440 (GRCm39) |
intron |
probably benign |
|
|
R9294:Eapp
|
UTSW |
12 |
54,737,061 (GRCm39) |
missense |
unknown |
|
|
R9733:Eapp
|
UTSW |
12 |
54,739,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTTTTCTACACATGGACAC -3'
(R):5'- CAGCACTTACTAAATGAGGGAGTG -3'
Sequencing Primer
(F):5'- CTCAGCTGTTAAGAGCACTGACTG -3'
(R):5'- CTTACTAAATGAGGGAGTGGATATGC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation