Incidental Mutation 'IGL00704:Uba2'
| ID |
14671 |
| 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 # |
IGL00704
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
33840121-33868014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33858294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 54
(N54S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102746]
[ENSMUST00000156253]
[ENSMUST00000175991]
|
| AlphaFold |
Q9Z1F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102746
AA Change: N177S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099807
Gene: ENSMUSG00000052997
AA Change: N177S
| 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 |
unknown
Transcript: ENSMUST00000134856
AA Change: N90S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156253
|
| SMART Domains |
Protein: ENSMUSP00000116605
Gene: ENSMUSG00000052997
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
10 |
119 |
1e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175991
AA Change: N54S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135885
Gene: ENSMUSG00000052997
AA Change: N54S
| 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: ENSMUST00000206651
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,736,257 (GRCm39) |
I217F |
probably benign |
Het |
| Agfg1 |
C |
T |
1: 82,836,124 (GRCm39) |
T3I |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,505,904 (GRCm39) |
V644E |
possibly damaging |
Het |
| Casd1 |
A |
T |
6: 4,607,979 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,952,827 (GRCm39) |
V369A |
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,423,487 (GRCm39) |
V299A |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,876,178 (GRCm39) |
C1439R |
probably damaging |
Het |
| Mfsd11 |
T |
C |
11: 116,749,322 (GRCm39) |
F59L |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,042,565 (GRCm39) |
D817V |
probably damaging |
Het |
| Phf3 |
C |
T |
1: 30,843,919 (GRCm39) |
G1680D |
probably benign |
Het |
| Pip4k2a |
G |
T |
2: 18,877,147 (GRCm39) |
T196K |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,433,769 (GRCm39) |
V606E |
probably damaging |
Het |
| Slc4a2 |
A |
C |
5: 24,644,066 (GRCm39) |
I931L |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,394,314 (GRCm39) |
Y88H |
probably damaging |
Het |
|
| Other mutations in Uba2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01593:Uba2
|
APN |
7 |
33,845,689 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2012-12-06 |
Incidental Mutation