Incidental Mutation 'IGL02565:Nae1'
| ID |
298784 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nae1
|
| Ensembl Gene |
ENSMUSG00000031878 |
| Gene Name |
NEDD8 activating enzyme E1 subunit 1 |
| Synonyms |
Appbp1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105237660-105261269 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105237841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 518
(N518K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034349]
[ENSMUST00000064576]
[ENSMUST00000159713]
[ENSMUST00000162466]
[ENSMUST00000161520]
|
| AlphaFold |
Q8VBW6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034349
AA Change: N518K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034349
Gene: ENSMUSG00000031878
AA Change: N518K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
13 |
533 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064576
|
| SMART Domains |
Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ee4a_
|
2 |
368 |
7e-11 |
SMART |
|
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
545 |
N/A |
INTRINSIC |
|
SANT
|
711 |
762 |
7.07e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159713
|
| SMART Domains |
Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qgra_
|
10 |
335 |
6e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161411
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162466
AA Change: N494K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125456
Gene: ENSMUSG00000031878
AA Change: N494K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3GZN|C
|
1 |
510 |
N/A |
PDB |
|
SCOP:d1jw9b_
|
9 |
145 |
5e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161462
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161520
|
| SMART Domains |
Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qgra_
|
10 |
336 |
2e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162014
|
| SMART Domains |
Protein: ENSMUSP00000123925
Gene: ENSMUSG00000052616
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
21 |
370 |
7e-8 |
SMART |
|
low complexity region
|
382 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
695 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,302,677 (GRCm39) |
S205R |
probably benign |
Het |
| Adora3 |
A |
G |
3: 105,815,128 (GRCm39) |
T293A |
probably benign |
Het |
| App |
T |
C |
16: 84,822,308 (GRCm39) |
|
probably null |
Het |
| Asap1 |
A |
G |
15: 64,001,014 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
A |
1: 146,777,770 (GRCm39) |
V739E |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,990,487 (GRCm39) |
V1755A |
probably damaging |
Het |
| Clmp |
A |
C |
9: 40,683,711 (GRCm39) |
D147A |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,145,343 (GRCm39) |
C122* |
probably null |
Het |
| Ctsb |
T |
G |
14: 63,375,859 (GRCm39) |
C198G |
probably null |
Het |
| Cyld |
A |
T |
8: 89,467,919 (GRCm39) |
R702S |
probably damaging |
Het |
| Cyp4v3 |
A |
G |
8: 45,773,674 (GRCm39) |
V165A |
possibly damaging |
Het |
| Dpy19l4 |
C |
A |
4: 11,309,440 (GRCm39) |
V59F |
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,472,779 (GRCm39) |
T196S |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,318 (GRCm39) |
D22E |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,369,858 (GRCm39) |
H1150R |
probably damaging |
Het |
| Grk5 |
T |
G |
19: 61,057,809 (GRCm39) |
F170V |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,997,882 (GRCm39) |
V339G |
possibly damaging |
Het |
| Hgd |
T |
A |
16: 37,435,749 (GRCm39) |
D153E |
possibly damaging |
Het |
| Ift70b |
A |
G |
2: 75,768,247 (GRCm39) |
Y169H |
probably benign |
Het |
| Igdcc3 |
T |
A |
9: 65,087,470 (GRCm39) |
L336Q |
probably damaging |
Het |
| Jph2 |
T |
C |
2: 163,239,265 (GRCm39) |
E61G |
probably damaging |
Het |
| Ktn1 |
A |
T |
14: 47,910,391 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,826,084 (GRCm39) |
D634E |
probably benign |
Het |
| Marchf6 |
T |
C |
15: 31,490,712 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
A |
10: 79,662,177 (GRCm39) |
I198N |
probably benign |
Het |
| Mmp14 |
C |
T |
14: 54,678,014 (GRCm39) |
P545L |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,411,604 (GRCm39) |
S1517P |
unknown |
Het |
| Pglyrp4 |
A |
T |
3: 90,642,794 (GRCm39) |
D225V |
probably benign |
Het |
| Pgpep1 |
A |
G |
8: 71,105,119 (GRCm39) |
I47T |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pitpnc1 |
G |
A |
11: 107,187,059 (GRCm39) |
T88I |
probably damaging |
Het |
| Poldip2 |
T |
C |
11: 78,408,678 (GRCm39) |
I181T |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,699,247 (GRCm39) |
|
probably null |
Het |
| Rasal1 |
A |
G |
5: 120,814,845 (GRCm39) |
|
probably benign |
Het |
| Rbms1 |
A |
G |
2: 60,590,123 (GRCm39) |
Y305H |
probably benign |
Het |
| Rnf123 |
A |
C |
9: 107,929,411 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
G |
A |
11: 4,026,237 (GRCm39) |
|
probably benign |
Het |
| Slc2a10 |
A |
C |
2: 165,357,000 (GRCm39) |
D220A |
probably damaging |
Het |
| Slc38a8 |
T |
C |
8: 120,212,300 (GRCm39) |
T348A |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,276,487 (GRCm39) |
V1104A |
probably benign |
Het |
| Snrpe |
T |
C |
1: 133,536,704 (GRCm39) |
|
probably benign |
Het |
| Th |
C |
A |
7: 142,453,647 (GRCm39) |
V18F |
probably damaging |
Het |
| Ubqln5 |
G |
A |
7: 103,778,279 (GRCm39) |
Q182* |
probably null |
Het |
| Unc5c |
T |
C |
3: 141,509,680 (GRCm39) |
V646A |
probably damaging |
Het |
| Wasf1 |
A |
G |
10: 40,812,128 (GRCm39) |
N306D |
possibly damaging |
Het |
|
| Other mutations in Nae1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Nae1
|
APN |
8 |
105,253,013 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL00585:Nae1
|
APN |
8 |
105,252,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00765:Nae1
|
APN |
8 |
105,244,582 (GRCm39) |
splice site |
probably benign |
|
|
IGL01420:Nae1
|
APN |
8 |
105,249,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02314:Nae1
|
APN |
8 |
105,252,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03202:Nae1
|
APN |
8 |
105,244,811 (GRCm39) |
splice site |
probably benign |
|
|
IGL03266:Nae1
|
APN |
8 |
105,239,828 (GRCm39) |
splice site |
probably benign |
|
|
Hangul
|
UTSW |
8 |
105,246,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
pixy_stix
|
UTSW |
8 |
105,246,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
taebaeksan
|
UTSW |
8 |
105,257,023 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0436:Nae1
|
UTSW |
8 |
105,249,868 (GRCm39) |
splice site |
probably benign |
|
|
R0687:Nae1
|
UTSW |
8 |
105,239,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Nae1
|
UTSW |
8 |
105,250,216 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1746:Nae1
|
UTSW |
8 |
105,254,017 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2241:Nae1
|
UTSW |
8 |
105,246,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2255:Nae1
|
UTSW |
8 |
105,256,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4821:Nae1
|
UTSW |
8 |
105,246,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Nae1
|
UTSW |
8 |
105,242,774 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5062:Nae1
|
UTSW |
8 |
105,243,334 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5240:Nae1
|
UTSW |
8 |
105,249,776 (GRCm39) |
intron |
probably benign |
|
|
R5250:Nae1
|
UTSW |
8 |
105,257,023 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6052:Nae1
|
UTSW |
8 |
105,261,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6075:Nae1
|
UTSW |
8 |
105,251,001 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6108:Nae1
|
UTSW |
8 |
105,254,034 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6318:Nae1
|
UTSW |
8 |
105,250,269 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7120:Nae1
|
UTSW |
8 |
105,252,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7202:Nae1
|
UTSW |
8 |
105,250,215 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7491:Nae1
|
UTSW |
8 |
105,244,871 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7659:Nae1
|
UTSW |
8 |
105,242,796 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8120:Nae1
|
UTSW |
8 |
105,246,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9381:Nae1
|
UTSW |
8 |
105,250,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9402:Nae1
|
UTSW |
8 |
105,254,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation