Incidental Mutation 'IGL03202:Nae1'
| ID |
413037 |
| 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 # |
IGL03202
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105237660-105261269 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 105244811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034349]
[ENSMUST00000162466]
|
| AlphaFold |
Q8VBW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034349
|
| SMART Domains |
Protein: ENSMUSP00000034349
Gene: ENSMUSG00000031878
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
13 |
533 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161462
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162466
|
| SMART Domains |
Protein: ENSMUSP00000125456
Gene: ENSMUSG00000031878
| 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: ENSMUST00000212514
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 86,909,911 (GRCm39) |
M1T |
probably null |
Het |
| Ace |
T |
A |
11: 105,867,788 (GRCm39) |
I168N |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 70,987,605 (GRCm39) |
C37W |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,125,268 (GRCm39) |
|
probably null |
Het |
| Bend5 |
A |
G |
4: 111,290,441 (GRCm39) |
N146D |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,541,124 (GRCm39) |
F1347L |
probably damaging |
Het |
| Crybg3 |
T |
A |
16: 59,315,072 (GRCm39) |
I2910F |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,805,023 (GRCm39) |
S1945P |
possibly damaging |
Het |
| Cxcr4 |
T |
G |
1: 128,516,641 (GRCm39) |
K340T |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,121,683 (GRCm39) |
Y1433F |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,231,101 (GRCm39) |
V77A |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,434,451 (GRCm39) |
H342L |
probably benign |
Het |
| Gm9843 |
T |
C |
16: 76,200,234 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac9 |
T |
C |
12: 34,423,950 (GRCm39) |
E520G |
probably damaging |
Het |
| Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
| Itpa |
T |
A |
2: 130,509,859 (GRCm39) |
|
probably benign |
Het |
| Lce1l |
A |
T |
3: 92,757,631 (GRCm39) |
C76S |
unknown |
Het |
| Lin54 |
A |
G |
5: 100,623,673 (GRCm39) |
S55P |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,506,199 (GRCm39) |
E1923V |
probably benign |
Het |
| Mtfmt |
C |
A |
9: 65,356,008 (GRCm39) |
P303Q |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,983,011 (GRCm39) |
|
probably benign |
Het |
| Or13a19 |
A |
G |
7: 139,903,019 (GRCm39) |
M136V |
possibly damaging |
Het |
| Or1e22 |
G |
A |
11: 73,377,351 (GRCm39) |
Q100* |
probably null |
Het |
| Pcnx2 |
A |
C |
8: 126,498,783 (GRCm39) |
I1572S |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,669 (GRCm39) |
Y2809N |
probably damaging |
Het |
| Pygl |
G |
T |
12: 70,246,420 (GRCm39) |
Q376K |
probably benign |
Het |
| Resf1 |
G |
A |
6: 149,227,937 (GRCm39) |
V328I |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,857,205 (GRCm39) |
|
probably null |
Het |
| Sephs1 |
A |
T |
2: 4,894,074 (GRCm39) |
I92F |
possibly damaging |
Het |
| Taar4 |
T |
C |
10: 23,836,692 (GRCm39) |
F101L |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,375 (GRCm39) |
I2053T |
probably damaging |
Het |
| Tgfbr3 |
T |
G |
5: 107,257,630 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,319 (GRCm39) |
Y401* |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,333,091 (GRCm39) |
M53T |
probably benign |
Het |
| Zfp941 |
A |
G |
7: 140,392,966 (GRCm39) |
V131A |
probably benign |
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 |
|
IGL02565:Nae1
|
APN |
8 |
105,237,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation