Incidental Mutation 'R5250:Nae1'
ID |
398950 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nae1
|
Ensembl Gene |
ENSMUSG00000031878 |
Gene Name |
NEDD8 activating enzyme E1 subunit 1 |
Synonyms |
Appbp1 |
MMRRC Submission |
042821-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5250 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
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 105257023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034349]
[ENSMUST00000159416]
[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 |
probably benign
Transcript: ENSMUST00000159416
|
SMART Domains |
Protein: ENSMUSP00000125112 Gene: ENSMUSG00000031883
Domain | Start | End | E-Value | Type |
Carb_anhydrase
|
1 |
206 |
1.93e-94 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160913
|
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: ENSMUST00000212942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213067
|
Meta Mutation Damage Score |
0.9355 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (60/60) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 86,135,182 (GRCm39) |
K236* |
probably null |
Het |
Adgre5 |
A |
G |
8: 84,460,069 (GRCm39) |
V109A |
probably benign |
Het |
Adora2a |
T |
C |
10: 75,161,882 (GRCm39) |
I7T |
probably damaging |
Het |
Ankrd6 |
A |
G |
4: 32,860,335 (GRCm39) |
V36A |
probably damaging |
Het |
Arhgef2 |
T |
C |
3: 88,540,955 (GRCm39) |
|
probably null |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Atg2b |
G |
A |
12: 105,602,024 (GRCm39) |
R1651W |
probably damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,933,870 (GRCm39) |
V553D |
possibly damaging |
Het |
Bard1 |
G |
A |
1: 71,113,722 (GRCm39) |
L420F |
probably damaging |
Het |
Bcat1 |
C |
G |
6: 144,993,165 (GRCm39) |
|
probably null |
Het |
Bpifb5 |
A |
T |
2: 154,066,881 (GRCm39) |
N45Y |
probably benign |
Het |
Btbd17 |
G |
T |
11: 114,682,234 (GRCm39) |
|
probably benign |
Het |
Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 114,010,819 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,456,305 (GRCm39) |
N784D |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,283,152 (GRCm39) |
V555D |
probably damaging |
Het |
Dixdc1 |
T |
G |
9: 50,595,035 (GRCm39) |
E230A |
possibly damaging |
Het |
Dnah7b |
T |
G |
1: 46,412,514 (GRCm39) |
V4041G |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,334,968 (GRCm39) |
I1021L |
probably damaging |
Het |
Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
Flt4 |
T |
A |
11: 49,521,227 (GRCm39) |
I412N |
possibly damaging |
Het |
Gabrb1 |
A |
G |
5: 72,026,922 (GRCm39) |
I141V |
possibly damaging |
Het |
Gpc2 |
A |
G |
5: 138,277,230 (GRCm39) |
Y66H |
probably damaging |
Het |
Hoxd3 |
C |
T |
2: 74,574,650 (GRCm39) |
Q99* |
probably null |
Het |
Inpp5d |
T |
C |
1: 87,637,397 (GRCm39) |
V781A |
probably damaging |
Het |
Larp4b |
T |
C |
13: 9,221,013 (GRCm39) |
|
probably benign |
Het |
Lrrfip1 |
T |
A |
1: 91,043,618 (GRCm39) |
S674R |
possibly damaging |
Het |
Megf6 |
A |
G |
4: 154,340,467 (GRCm39) |
T561A |
possibly damaging |
Het |
Mpo |
A |
T |
11: 87,694,259 (GRCm39) |
Q83L |
probably benign |
Het |
Mucl2 |
T |
C |
15: 103,927,733 (GRCm39) |
N75D |
possibly damaging |
Het |
Myh13 |
C |
T |
11: 67,218,085 (GRCm39) |
Q53* |
probably null |
Het |
Myot |
T |
A |
18: 44,479,137 (GRCm39) |
D291E |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,294,913 (GRCm39) |
S2R |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,578,858 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
G |
17: 90,842,869 (GRCm39) |
|
probably benign |
Het |
Or10aa3 |
T |
G |
1: 173,878,838 (GRCm39) |
F300V |
probably benign |
Het |
Or14j4 |
A |
G |
17: 37,920,851 (GRCm39) |
S264P |
probably damaging |
Het |
Or5an1b |
T |
C |
19: 12,299,430 (GRCm39) |
T254A |
probably benign |
Het |
P2rx2 |
T |
C |
5: 110,489,454 (GRCm39) |
E160G |
probably damaging |
Het |
Pcdhga11 |
A |
T |
18: 37,890,990 (GRCm39) |
D666V |
probably damaging |
Het |
Pcm1 |
A |
T |
8: 41,765,242 (GRCm39) |
E1484D |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
Potefam1 |
T |
G |
2: 111,058,422 (GRCm39) |
T124P |
possibly damaging |
Het |
Ppm1e |
T |
C |
11: 87,121,744 (GRCm39) |
I738V |
probably benign |
Het |
Ppp1r13b |
G |
T |
12: 111,811,394 (GRCm39) |
R165S |
probably benign |
Het |
Rasgrp2 |
T |
C |
19: 6,454,343 (GRCm39) |
W129R |
probably damaging |
Het |
Smurf2 |
A |
G |
11: 106,747,005 (GRCm39) |
|
probably null |
Het |
Spmap1 |
C |
A |
11: 97,663,553 (GRCm39) |
W99L |
possibly damaging |
Het |
Ubr2 |
G |
T |
17: 47,241,368 (GRCm39) |
Q1729K |
probably benign |
Het |
Zfp260 |
T |
A |
7: 29,804,392 (GRCm39) |
H97Q |
probably damaging |
Het |
Zfp429 |
G |
T |
13: 67,538,638 (GRCm39) |
R269S |
probably benign |
Het |
Zfp568 |
T |
C |
7: 29,716,655 (GRCm39) |
V185A |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCGCTGACCAGATTTCCATC -3'
(R):5'- GTCATGTAACCCACACATTATCAGC -3'
Sequencing Primer
(F):5'- ACTGTTTGAATGTGAGCGCAC -3'
(R):5'- CCCACGTGTTTGCTGTGG -3'
|
Posted On |
2016-07-06 |