Incidental Mutation 'IGL01593:Uba2'
ID |
91646 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Uba2
|
Ensembl Gene |
ENSMUSG00000052997 |
Gene Name |
ubiquitin-like modifier activating enzyme 2 |
Synonyms |
SAE2, anthracycline-associated resistance, Uble1b, Arx, UBA2, Sumo-1 activating enzyme subunit 2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01593
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
33840121-33868014 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33845689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 478
(V478A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099807
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102746]
[ENSMUST00000152037]
[ENSMUST00000175991]
|
AlphaFold |
Q9Z1F9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102746
AA Change: V478A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099807 Gene: ENSMUSG00000052997 AA Change: V478A
Domain | Start | End | E-Value | Type |
Pfam:ThiF
|
3 |
442 |
5.8e-77 |
PFAM |
Pfam:UAE_UbL
|
450 |
537 |
5.6e-27 |
PFAM |
Pfam:UBA2_C
|
547 |
634 |
8.9e-30 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124824
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142763
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152037
|
SMART Domains |
Protein: ENSMUSP00000135078 Gene: ENSMUSG00000052997
Domain | Start | End | E-Value | Type |
PDB:1Y8R|E
|
1 |
66 |
8e-37 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175991
|
SMART Domains |
Protein: ENSMUSP00000135885 Gene: ENSMUSG00000052997
Domain | Start | End | E-Value | Type |
Pfam:UBA_e1_thiolCys
|
31 |
75 |
5.3e-26 |
PFAM |
low complexity region
|
88 |
105 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205711
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
Ackr4 |
C |
T |
9: 103,963,130 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
Atp6v0d2 |
C |
A |
4: 19,881,436 (GRCm39) |
R219L |
probably damaging |
Het |
Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
Cd33 |
A |
G |
7: 43,179,705 (GRCm39) |
L241P |
possibly damaging |
Het |
Clec4g |
A |
T |
8: 3,769,474 (GRCm39) |
|
probably null |
Het |
Dym |
C |
T |
18: 75,247,852 (GRCm39) |
|
probably benign |
Het |
Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
Gpr39 |
A |
T |
1: 125,605,188 (GRCm39) |
I39F |
probably benign |
Het |
Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
Pole2 |
C |
T |
12: 69,269,873 (GRCm39) |
|
probably null |
Het |
Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
Ston1 |
G |
A |
17: 88,944,438 (GRCm39) |
G615R |
probably null |
Het |
Tas2r139 |
T |
G |
6: 42,117,891 (GRCm39) |
W8G |
probably benign |
Het |
Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
probably damaging |
Het |
|
Other mutations in Uba2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00704:Uba2
|
APN |
7 |
33,858,294 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02268:Uba2
|
APN |
7 |
33,842,161 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03399:Uba2
|
APN |
7 |
33,843,939 (GRCm39) |
missense |
probably damaging |
1.00 |
Divided
|
UTSW |
7 |
33,864,860 (GRCm39) |
missense |
probably damaging |
1.00 |
Minus
|
UTSW |
7 |
33,845,687 (GRCm39) |
nonsense |
probably null |
|
Subtracted
|
UTSW |
7 |
33,850,239 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0242:Uba2
|
UTSW |
7 |
33,854,054 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0242:Uba2
|
UTSW |
7 |
33,854,054 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0270:Uba2
|
UTSW |
7 |
33,850,281 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0390:Uba2
|
UTSW |
7 |
33,850,446 (GRCm39) |
missense |
probably benign |
0.10 |
R0603:Uba2
|
UTSW |
7 |
33,861,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R1066:Uba2
|
UTSW |
7 |
33,858,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1806:Uba2
|
UTSW |
7 |
33,862,624 (GRCm39) |
missense |
probably damaging |
0.99 |
R1813:Uba2
|
UTSW |
7 |
33,850,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1896:Uba2
|
UTSW |
7 |
33,850,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R2210:Uba2
|
UTSW |
7 |
33,862,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R3618:Uba2
|
UTSW |
7 |
33,853,907 (GRCm39) |
critical splice donor site |
probably null |
|
R3779:Uba2
|
UTSW |
7 |
33,854,071 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3793:Uba2
|
UTSW |
7 |
33,845,722 (GRCm39) |
missense |
probably damaging |
0.97 |
R4607:Uba2
|
UTSW |
7 |
33,854,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Uba2
|
UTSW |
7 |
33,854,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R5938:Uba2
|
UTSW |
7 |
33,864,915 (GRCm39) |
splice site |
probably null |
|
R6404:Uba2
|
UTSW |
7 |
33,853,985 (GRCm39) |
missense |
probably damaging |
0.98 |
R7050:Uba2
|
UTSW |
7 |
33,845,687 (GRCm39) |
nonsense |
probably null |
|
R7181:Uba2
|
UTSW |
7 |
33,840,854 (GRCm39) |
missense |
probably benign |
0.01 |
R7369:Uba2
|
UTSW |
7 |
33,850,239 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7622:Uba2
|
UTSW |
7 |
33,864,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R7727:Uba2
|
UTSW |
7 |
33,850,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R7807:Uba2
|
UTSW |
7 |
33,862,638 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8038:Uba2
|
UTSW |
7 |
33,847,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R8057:Uba2
|
UTSW |
7 |
33,867,835 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8120:Uba2
|
UTSW |
7 |
33,867,812 (GRCm39) |
missense |
probably benign |
|
R8253:Uba2
|
UTSW |
7 |
33,850,323 (GRCm39) |
missense |
probably damaging |
0.96 |
R8961:Uba2
|
UTSW |
7 |
33,855,642 (GRCm39) |
intron |
probably benign |
|
R8988:Uba2
|
UTSW |
7 |
33,853,987 (GRCm39) |
missense |
probably benign |
|
R9672:Uba2
|
UTSW |
7 |
33,856,749 (GRCm39) |
missense |
probably benign |
0.29 |
X0026:Uba2
|
UTSW |
7 |
33,853,904 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2013-12-09 |