Incidental Mutation 'IGL02591:Eapp'
| ID |
299750 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eapp
|
| Ensembl Gene |
ENSMUSG00000054302 |
| Gene Name |
E2F-associated phosphoprotein |
| Synonyms |
1810011O16Rik, EAPP |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
IGL02591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
54717125-54742682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54739607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 70
(N70S)
|
| 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: N70S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106341
Gene: ENSMUSG00000054302
AA Change: N70S
| 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 damaging
Transcript: ENSMUST00000160085
AA Change: N70S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124699
Gene: ENSMUSG00000054302
AA Change: N70S
| 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: N70S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123698
Gene: ENSMUSG00000054302
AA Change: N70S
| 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 damaging
Transcript: ENSMUST00000162106
AA Change: N70S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124232
Gene: ENSMUSG00000054302
AA Change: N70S
| 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: N70S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000130251
Gene: ENSMUSG00000054302
AA Change: N70S
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
T |
2: 19,485,249 (GRCm39) |
F448I |
probably benign |
Het |
| Afg3l1 |
T |
C |
8: 124,212,748 (GRCm39) |
F170L |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,398,158 (GRCm39) |
R1300* |
probably null |
Het |
| Cadps |
G |
A |
14: 12,473,465 (GRCm38) |
R899C |
probably damaging |
Het |
| Ckap4 |
T |
C |
10: 84,364,454 (GRCm39) |
D203G |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,249 (GRCm39) |
N433D |
probably damaging |
Het |
| Eno3 |
A |
T |
11: 70,552,853 (GRCm39) |
D378V |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,638 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,082,031 (GRCm39) |
I558F |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,776,786 (GRCm39) |
M234K |
possibly damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,490,344 (GRCm39) |
Q81R |
probably damaging |
Het |
| Gpm6a |
C |
T |
8: 55,511,954 (GRCm39) |
A276V |
probably damaging |
Het |
| Hecw1 |
C |
A |
13: 14,531,821 (GRCm39) |
|
probably benign |
Het |
| Ikbip |
G |
T |
10: 90,932,154 (GRCm39) |
C266F |
probably damaging |
Het |
| Lpar2 |
C |
T |
8: 70,276,700 (GRCm39) |
A163V |
probably benign |
Het |
| Med17 |
T |
A |
9: 15,181,657 (GRCm39) |
H31L |
probably damaging |
Het |
| Or5g25 |
C |
A |
2: 85,478,487 (GRCm39) |
M59I |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,755,053 (GRCm39) |
F992L |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,900,287 (GRCm39) |
H864R |
probably damaging |
Het |
| Samd9l |
A |
C |
6: 3,375,760 (GRCm39) |
C500W |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,378,178 (GRCm39) |
Y501N |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,957,702 (GRCm39) |
H277L |
probably damaging |
Het |
| Slc39a8 |
T |
G |
3: 135,590,381 (GRCm39) |
L358R |
probably damaging |
Het |
| Spi1 |
T |
A |
2: 90,927,295 (GRCm39) |
M1K |
probably null |
Het |
| Thsd1 |
A |
G |
8: 22,748,743 (GRCm39) |
E477G |
probably damaging |
Het |
| Tlr1 |
C |
T |
5: 65,084,059 (GRCm39) |
V173M |
probably damaging |
Het |
| Tmco2 |
C |
T |
4: 120,962,987 (GRCm39) |
D171N |
probably damaging |
Het |
| Ugt2b1 |
A |
G |
5: 87,065,563 (GRCm39) |
L492P |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,153 (GRCm39) |
I333K |
probably damaging |
Het |
| Zfp598 |
C |
A |
17: 24,896,478 (GRCm39) |
P185Q |
probably damaging |
Het |
| Zfp711 |
T |
A |
X: 111,542,391 (GRCm39) |
M474K |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,509,206 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R5537:Eapp
|
UTSW |
12 |
54,738,844 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation