Incidental Mutation 'IGL02798:Nub1'
| ID |
360044 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nub1
|
| Ensembl Gene |
ENSMUSG00000028954 |
| Gene Name |
negative regulator of ubiquitin-like proteins 1 |
| Synonyms |
NY-REN-18, 6330412F12Rik, BS4, 4931404D21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
IGL02798
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
24890813-24915376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24897812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 42
(A42D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068825]
[ENSMUST00000197407]
|
| AlphaFold |
P54729 |
| PDB Structure |
Solution Structure of RSGI RUH-012, a UBA Domain from Mouse cDNA [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068825
AA Change: A42D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070265
Gene: ENSMUSG00000028954
AA Change: A42D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
70 |
N/A |
INTRINSIC |
|
PDB:1WJU|A
|
71 |
162 |
2e-45 |
PDB |
|
low complexity region
|
167 |
186 |
N/A |
INTRINSIC |
|
UBA
|
375 |
412 |
7.29e-8 |
SMART |
|
UBA
|
431 |
468 |
1.61e-9 |
SMART |
|
UBA
|
490 |
527 |
1.95e-8 |
SMART |
|
low complexity region
|
539 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181925
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197407
AA Change: A66D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143657
Gene: ENSMUSG00000028954
AA Change: A66D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
61 |
94 |
N/A |
INTRINSIC |
|
PDB:1WJU|A
|
95 |
186 |
2e-45 |
PDB |
|
low complexity region
|
191 |
210 |
N/A |
INTRINSIC |
|
UBA
|
399 |
436 |
3.5e-10 |
SMART |
|
UBA
|
455 |
492 |
8.1e-12 |
SMART |
|
UBA
|
514 |
551 |
9.5e-11 |
SMART |
|
low complexity region
|
563 |
589 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200337
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,277,724 (GRCm39) |
C514S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,126,002 (GRCm39) |
I105T |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,292,441 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
A |
G |
7: 100,578,833 (GRCm39) |
V705A |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,184 (GRCm39) |
C253S |
probably benign |
Het |
| Cbx7 |
T |
C |
15: 79,802,600 (GRCm39) |
T226A |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,875,190 (GRCm39) |
I324T |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,720,774 (GRCm39) |
H2608L |
probably damaging |
Het |
| Cramp1 |
A |
G |
17: 25,187,894 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,462,693 (GRCm39) |
C231R |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,563,690 (GRCm39) |
|
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,132,775 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,717,824 (GRCm39) |
P842S |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,102,186 (GRCm39) |
|
probably benign |
Het |
| Lig3 |
T |
C |
11: 82,686,531 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,307,055 (GRCm39) |
T392K |
probably benign |
Het |
| Msl2 |
G |
T |
9: 100,957,430 (GRCm39) |
R33S |
probably benign |
Het |
| Nrde2 |
T |
A |
12: 100,110,081 (GRCm39) |
K317* |
probably null |
Het |
| Obox2 |
T |
C |
7: 15,130,807 (GRCm39) |
V13A |
possibly damaging |
Het |
| Or13p3 |
T |
C |
4: 118,566,696 (GRCm39) |
F31L |
probably damaging |
Het |
| Or4k5 |
T |
A |
14: 50,385,835 (GRCm39) |
K165N |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,478 (GRCm39) |
C127* |
probably null |
Het |
| Phkb |
T |
C |
8: 86,770,406 (GRCm39) |
Y892H |
probably benign |
Het |
| Ptdss1 |
A |
G |
13: 67,124,824 (GRCm39) |
Y341C |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,544,219 (GRCm39) |
D424G |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,370,903 (GRCm39) |
R559Q |
possibly damaging |
Het |
| Sctr |
G |
A |
1: 119,949,910 (GRCm39) |
C33Y |
probably damaging |
Het |
| Sh2b2 |
G |
T |
5: 136,250,817 (GRCm39) |
A419E |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,347,449 (GRCm39) |
M317K |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,499,382 (GRCm39) |
S178G |
probably benign |
Het |
| Slc7a12 |
T |
A |
3: 14,546,217 (GRCm39) |
C121S |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,191,533 (GRCm39) |
S148G |
possibly damaging |
Het |
| Tent5a |
A |
T |
9: 85,206,937 (GRCm39) |
V287E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,963 (GRCm39) |
K507R |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,586,207 (GRCm39) |
K21841N |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,220,346 (GRCm39) |
Y380H |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,340,991 (GRCm39) |
T1840A |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,694,070 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nub1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02367:Nub1
|
APN |
5 |
24,894,392 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL02626:Nub1
|
APN |
5 |
24,908,462 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02629:Nub1
|
APN |
5 |
24,908,462 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02633:Nub1
|
APN |
5 |
24,897,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03384:Nub1
|
APN |
5 |
24,902,424 (GRCm39) |
splice site |
probably null |
|
|
IGL03384:Nub1
|
APN |
5 |
24,902,425 (GRCm39) |
splice site |
probably benign |
|
|
R2484:Nub1
|
UTSW |
5 |
24,913,700 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2679:Nub1
|
UTSW |
5 |
24,897,923 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3825:Nub1
|
UTSW |
5 |
24,912,851 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4180:Nub1
|
UTSW |
5 |
24,897,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4593:Nub1
|
UTSW |
5 |
24,914,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Nub1
|
UTSW |
5 |
24,906,467 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5175:Nub1
|
UTSW |
5 |
24,907,446 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5282:Nub1
|
UTSW |
5 |
24,900,533 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5346:Nub1
|
UTSW |
5 |
24,902,414 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5533:Nub1
|
UTSW |
5 |
24,907,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5567:Nub1
|
UTSW |
5 |
24,913,814 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5802:Nub1
|
UTSW |
5 |
24,907,439 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6966:Nub1
|
UTSW |
5 |
24,894,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Nub1
|
UTSW |
5 |
24,913,709 (GRCm39) |
missense |
probably benign |
|
|
R7540:Nub1
|
UTSW |
5 |
24,906,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Nub1
|
UTSW |
5 |
24,913,801 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8478:Nub1
|
UTSW |
5 |
24,906,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9746:Nub1
|
UTSW |
5 |
24,908,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9760:Nub1
|
UTSW |
5 |
24,897,965 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1177:Nub1
|
UTSW |
5 |
24,907,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation