Incidental Mutation 'IGL00765:Nae1'
ID |
12216 |
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 # |
IGL00765
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105237660-105261269 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 105244582 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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
C |
T |
16: 14,229,372 (GRCm39) |
T368I |
probably damaging |
Het |
Bub1 |
T |
A |
2: 127,671,392 (GRCm39) |
N64I |
probably damaging |
Het |
Ccdc97 |
A |
G |
7: 25,414,277 (GRCm39) |
L159P |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,123,431 (GRCm39) |
V214A |
probably damaging |
Het |
Csf2rb2 |
A |
G |
15: 78,176,916 (GRCm39) |
S185P |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,322,706 (GRCm39) |
|
probably benign |
Het |
Eif3e |
A |
T |
15: 43,141,745 (GRCm39) |
M55K |
probably benign |
Het |
Ercc6l2 |
T |
C |
13: 63,996,586 (GRCm39) |
V365A |
possibly damaging |
Het |
Fndc1 |
A |
G |
17: 7,991,525 (GRCm39) |
S724P |
unknown |
Het |
Htt |
T |
C |
5: 35,034,769 (GRCm39) |
|
probably benign |
Het |
Ints4 |
C |
T |
7: 97,184,412 (GRCm39) |
T839I |
probably damaging |
Het |
Lrp6 |
T |
G |
6: 134,518,817 (GRCm39) |
T83P |
probably benign |
Het |
Lrrc8d |
C |
T |
5: 105,959,818 (GRCm39) |
T76I |
possibly damaging |
Het |
Nlrp14 |
T |
C |
7: 106,789,346 (GRCm39) |
V45A |
possibly damaging |
Het |
Nrp2 |
C |
A |
1: 62,743,410 (GRCm39) |
S16* |
probably null |
Het |
Nup155 |
T |
C |
15: 8,182,712 (GRCm39) |
I1225T |
probably benign |
Het |
Pnpla7 |
G |
T |
2: 24,870,236 (GRCm39) |
A43S |
probably damaging |
Het |
Prcp |
T |
C |
7: 92,582,307 (GRCm39) |
S431P |
probably benign |
Het |
Rbck1 |
A |
G |
2: 152,172,874 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,968,867 (GRCm39) |
E963G |
probably damaging |
Het |
Tanc1 |
A |
C |
2: 59,636,645 (GRCm39) |
M836L |
probably benign |
Het |
Tnpo1 |
A |
G |
13: 98,986,612 (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 |
|
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 |
2012-12-06 |