Incidental Mutation 'IGL03266:Nae1'
| ID |
415093 |
| 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 # |
IGL03266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105237660-105261269 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 105239828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034349]
[ENSMUST00000064576]
[ENSMUST00000159713]
[ENSMUST00000162466]
[ENSMUST00000161520]
|
| 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 |
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: 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: ENSMUST00000160913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161411
|
| 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: ENSMUST00000161462
|
| 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 |
|
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
T |
6: 88,815,916 (GRCm39) |
V185E |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,374,578 (GRCm39) |
E815G |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 71,003,440 (GRCm39) |
S261A |
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,719,924 (GRCm39) |
V504A |
possibly damaging |
Het |
| Btla |
T |
C |
16: 45,059,638 (GRCm39) |
I114T |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,022,705 (GRCm39) |
I348L |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,871,805 (GRCm39) |
I159F |
probably damaging |
Het |
| Creld1 |
T |
A |
6: 113,466,558 (GRCm39) |
H208Q |
probably benign |
Het |
| Fap |
C |
T |
2: 62,367,366 (GRCm39) |
V334I |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,174,855 (GRCm39) |
V1953M |
possibly damaging |
Het |
| Fgfr3 |
G |
A |
5: 33,891,709 (GRCm39) |
A595T |
probably damaging |
Het |
| Gm8122 |
T |
A |
14: 43,090,116 (GRCm39) |
M125L |
unknown |
Het |
| Itprid2 |
G |
A |
2: 79,472,534 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
T |
G |
7: 43,619,900 (GRCm39) |
L153R |
probably benign |
Het |
| Lrig3 |
T |
A |
10: 125,849,151 (GRCm39) |
M957K |
probably benign |
Het |
| Mc3r |
C |
T |
2: 172,091,189 (GRCm39) |
A137V |
probably benign |
Het |
| Met |
T |
A |
6: 17,540,537 (GRCm39) |
L821Q |
possibly damaging |
Het |
| Mrps17 |
T |
C |
5: 129,793,806 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,067,150 (GRCm39) |
T202A |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,348 (GRCm39) |
I2240N |
probably damaging |
Het |
| Stat6 |
T |
C |
10: 127,493,024 (GRCm39) |
L552P |
possibly damaging |
Het |
| Trbv3 |
C |
A |
6: 41,025,658 (GRCm39) |
Q83K |
probably benign |
Het |
| Uaca |
A |
T |
9: 60,770,689 (GRCm39) |
D344V |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,377,921 (GRCm39) |
E303G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,189,129 (GRCm39) |
D1452E |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,655,040 (GRCm39) |
|
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 |
|
IGL03202:Nae1
|
APN |
8 |
105,244,811 (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