Incidental Mutation 'R6108:Nae1'
| ID |
485611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nae1
|
| Ensembl Gene |
ENSMUSG00000031878 |
| Gene Name |
NEDD8 activating enzyme E1 subunit 1 |
| Synonyms |
Appbp1 |
| MMRRC Submission |
044258-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105237660-105261269 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105254034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 99
(D99E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034349]
[ENSMUST00000162466]
|
| AlphaFold |
Q8VBW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034349
AA Change: D99E
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000034349
Gene: ENSMUSG00000031878
AA Change: D99E
| 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 |
noncoding transcript
Transcript: ENSMUST00000213067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212514
|
| 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 |
|
| Meta Mutation Damage Score |
0.0664 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,539,814 (GRCm39) |
F5702L |
probably damaging |
Het |
| Aptx |
G |
A |
4: 40,694,986 (GRCm39) |
Q117* |
probably null |
Het |
| Axin1 |
T |
A |
17: 26,362,214 (GRCm39) |
M186K |
probably damaging |
Het |
| Btbd2 |
A |
T |
10: 80,481,365 (GRCm39) |
L249Q |
probably damaging |
Het |
| Caprin1 |
C |
T |
2: 103,606,362 (GRCm39) |
V293I |
possibly damaging |
Het |
| Ccdc136 |
C |
A |
6: 29,412,449 (GRCm39) |
H334Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,911,389 (GRCm39) |
N568S |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,394,210 (GRCm39) |
F515L |
probably benign |
Het |
| Chrm2 |
T |
A |
6: 36,500,230 (GRCm39) |
V29E |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,457,048 (GRCm39) |
L1956P |
probably damaging |
Het |
| Cyp2d22 |
T |
C |
15: 82,256,106 (GRCm39) |
K176R |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,496,004 (GRCm39) |
I3151N |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,304 (GRCm39) |
D792E |
probably benign |
Het |
| Fam167b |
A |
T |
4: 129,472,101 (GRCm39) |
L23* |
probably null |
Het |
| Fermt3 |
C |
A |
19: 6,991,782 (GRCm39) |
R143L |
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,285,930 (GRCm39) |
I140V |
possibly damaging |
Het |
| Gna14 |
A |
G |
19: 16,580,707 (GRCm39) |
T182A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,978 (GRCm39) |
V3738A |
possibly damaging |
Het |
| Hspa4 |
C |
T |
11: 53,152,539 (GRCm39) |
G810D |
probably damaging |
Het |
| Igf2bp3 |
A |
G |
6: 49,094,308 (GRCm39) |
I154T |
probably damaging |
Het |
| Il1rap |
G |
A |
16: 26,541,457 (GRCm39) |
S566N |
probably damaging |
Het |
| Kcnb1 |
G |
A |
2: 166,947,060 (GRCm39) |
T596M |
probably damaging |
Het |
| Kcnn1 |
A |
C |
8: 71,307,800 (GRCm39) |
S81A |
probably benign |
Het |
| Lmod1 |
G |
A |
1: 135,291,849 (GRCm39) |
G235R |
probably benign |
Het |
| Mei1 |
A |
T |
15: 81,959,389 (GRCm39) |
R185S |
possibly damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,952,960 (GRCm39) |
V414M |
possibly damaging |
Het |
| Mon2 |
C |
A |
10: 122,868,600 (GRCm39) |
M484I |
probably benign |
Het |
| Nsun7 |
T |
A |
5: 66,453,142 (GRCm39) |
I619N |
probably damaging |
Het |
| Nudt12 |
C |
A |
17: 59,314,744 (GRCm39) |
R280L |
probably damaging |
Het |
| Or1l4 |
T |
C |
2: 37,091,778 (GRCm39) |
V175A |
possibly damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,596 (GRCm39) |
I245N |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Plek |
T |
A |
11: 16,940,058 (GRCm39) |
Y217F |
probably damaging |
Het |
| Plpp1 |
A |
T |
13: 113,003,399 (GRCm39) |
I208F |
possibly damaging |
Het |
| Ptges3-ps |
C |
T |
6: 85,821,537 (GRCm39) |
|
noncoding transcript |
Het |
| Ptprf |
A |
G |
4: 118,080,453 (GRCm39) |
L1267P |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 23,045,658 (GRCm39) |
S2143C |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,393 (GRCm39) |
D1764G |
probably damaging |
Het |
| Serpinb5 |
T |
A |
1: 106,809,458 (GRCm39) |
L288Q |
probably damaging |
Het |
| Slc6a20b |
T |
G |
9: 123,425,251 (GRCm39) |
M539L |
probably benign |
Het |
| Slfnl1 |
A |
G |
4: 120,390,558 (GRCm39) |
T70A |
probably benign |
Het |
| Smtn |
C |
A |
11: 3,479,608 (GRCm39) |
L486F |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,781,420 (GRCm39) |
|
probably null |
Het |
| Tas2r144 |
C |
A |
6: 42,192,691 (GRCm39) |
L144I |
possibly damaging |
Het |
| Tjp3 |
C |
T |
10: 81,116,980 (GRCm39) |
R183K |
probably benign |
Het |
| Tnip3 |
A |
G |
6: 65,502,395 (GRCm39) |
|
probably null |
Het |
| Tspan12 |
T |
A |
6: 21,772,770 (GRCm39) |
M212L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,708,385 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,545 (GRCm39) |
M48V |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,143,667 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,058,950 (GRCm39) |
T348A |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,480 (GRCm39) |
L333F |
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 |
|
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 |
|
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'- TTCTGGACTCTAAATAAGACAAGGG -3'
(R):5'- AGAATTGTCACATCCATGCATG -3'
Sequencing Primer
(F):5'- CAGTTTCACATATTAAACATGGCAG -3'
(R):5'- GCATGGAATTTGGAAAGTTTCAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation