Incidental Mutation 'IGL00585:Nae1'
ID |
4979 |
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 # |
IGL00585
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105237660-105261269 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 105252910 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 null
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: 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 null
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
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
A |
17: 24,519,294 (GRCm39) |
I664F |
probably damaging |
Het |
Abcg4 |
A |
T |
9: 44,192,920 (GRCm39) |
M142K |
probably benign |
Het |
Afdn |
A |
G |
17: 14,104,890 (GRCm39) |
T1198A |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,136,239 (GRCm39) |
S475P |
probably damaging |
Het |
Ap3s2 |
T |
C |
7: 79,565,824 (GRCm39) |
E34G |
probably benign |
Het |
C1qtnf9 |
T |
C |
14: 61,017,442 (GRCm39) |
F324S |
probably damaging |
Het |
Cacng7 |
A |
G |
7: 3,414,547 (GRCm39) |
Y170C |
probably damaging |
Het |
Ceacam18 |
G |
A |
7: 43,286,435 (GRCm39) |
V103M |
possibly damaging |
Het |
Chrnb1 |
G |
A |
11: 69,684,742 (GRCm39) |
P144S |
probably damaging |
Het |
Chuk |
T |
C |
19: 44,066,751 (GRCm39) |
H652R |
probably damaging |
Het |
Ckap5 |
C |
T |
2: 91,450,170 (GRCm39) |
L1948F |
probably damaging |
Het |
Clstn1 |
A |
T |
4: 149,722,769 (GRCm39) |
H469L |
probably benign |
Het |
Csf2rb2 |
C |
T |
15: 78,169,047 (GRCm39) |
G594S |
possibly damaging |
Het |
Ctsq |
A |
T |
13: 61,184,941 (GRCm39) |
D248E |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,903,771 (GRCm39) |
I276K |
possibly damaging |
Het |
Gbf1 |
G |
A |
19: 46,272,688 (GRCm39) |
|
probably null |
Het |
Gldn |
T |
A |
9: 54,245,748 (GRCm39) |
I433N |
probably damaging |
Het |
Gm136 |
T |
A |
4: 34,752,322 (GRCm39) |
E69V |
probably damaging |
Het |
Gm28177 |
T |
C |
1: 52,121,738 (GRCm39) |
|
probably null |
Het |
Gtf2h2 |
A |
G |
13: 100,617,506 (GRCm39) |
|
probably benign |
Het |
Ints12 |
T |
C |
3: 132,806,570 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,026,158 (GRCm39) |
D615G |
probably damaging |
Het |
Mgme1 |
C |
T |
2: 144,113,909 (GRCm39) |
P4S |
probably benign |
Het |
Nup133 |
G |
A |
8: 124,636,733 (GRCm39) |
A956V |
probably damaging |
Het |
Oacyl |
T |
A |
18: 65,882,711 (GRCm39) |
M529K |
possibly damaging |
Het |
Osbpl1a |
T |
A |
18: 12,890,683 (GRCm39) |
E519V |
possibly damaging |
Het |
Pacs1 |
A |
T |
19: 5,203,726 (GRCm39) |
V333E |
probably damaging |
Het |
Pik3c3 |
T |
G |
18: 30,436,131 (GRCm39) |
|
probably benign |
Het |
Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
Ppp6r3 |
A |
G |
19: 3,540,826 (GRCm39) |
C431R |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,051,087 (GRCm39) |
S206P |
possibly damaging |
Het |
Rab20 |
A |
G |
8: 11,504,212 (GRCm39) |
Y163H |
probably benign |
Het |
Sde2 |
T |
A |
1: 180,683,383 (GRCm39) |
C46S |
possibly damaging |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Spata20 |
T |
G |
11: 94,369,943 (GRCm39) |
L784F |
probably damaging |
Het |
Tnnt1 |
A |
C |
7: 4,510,549 (GRCm39) |
M224R |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,178,358 (GRCm39) |
F349L |
possibly damaging |
Het |
Ttf1 |
T |
C |
2: 28,963,895 (GRCm39) |
|
probably benign |
Het |
Usp54 |
T |
A |
14: 20,623,905 (GRCm39) |
S651C |
probably damaging |
Het |
Vps45 |
A |
G |
3: 95,907,378 (GRCm39) |
*571R |
probably null |
Het |
Yod1 |
G |
A |
1: 130,646,870 (GRCm39) |
G249E |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,997,428 (GRCm39) |
Y340C |
probably damaging |
Het |
Zfp366 |
G |
A |
13: 99,383,080 (GRCm39) |
|
probably benign |
Het |
Zfp648 |
T |
A |
1: 154,079,935 (GRCm39) |
D31E |
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 |
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 |