Incidental Mutation 'IGL00476:Nae1'
| ID |
4978 |
| 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 # |
IGL00476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105237660-105261269 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105253013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 137
(L137Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034349]
[ENSMUST00000162466]
|
| AlphaFold |
Q8VBW6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034349
AA Change: L137Q
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034349
Gene: ENSMUSG00000031878
AA Change: L137Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
13 |
533 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162466
AA Change: L113Q
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125456
Gene: ENSMUSG00000031878
AA Change: L113Q
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213067
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
| Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
| Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
| Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
| Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
| Other mutations in Nae1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-04-20 |
Incidental Mutation