Incidental Mutation 'IGL03399:Uba2'
| ID |
421343 |
| 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 # |
IGL03399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
33840121-33868014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33843939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 12
(T12I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102746]
[ENSMUST00000152037]
|
| AlphaFold |
Q9Z1F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102746
AA Change: T525I
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099807
Gene: ENSMUSG00000052997
AA Change: T525I
| 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 damaging
Transcript: ENSMUST00000152037
AA Change: T12I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135078
Gene: ENSMUSG00000052997
AA Change: T12I
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1Y8R|E
|
1 |
66 |
8e-37 |
PDB |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
C |
T |
2: 150,479,798 (GRCm39) |
G303D |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,454,728 (GRCm39) |
Y515F |
probably damaging |
Het |
| Birc2 |
A |
T |
9: 7,821,088 (GRCm39) |
L412Q |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,901,368 (GRCm39) |
I1144T |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,073,208 (GRCm39) |
N770I |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,956 (GRCm39) |
N671D |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,108,426 (GRCm39) |
D823G |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,511,024 (GRCm39) |
D367G |
probably damaging |
Het |
| Exog |
T |
G |
9: 119,276,017 (GRCm39) |
S56A |
possibly damaging |
Het |
| Hap1 |
C |
A |
11: 100,245,093 (GRCm39) |
M39I |
possibly damaging |
Het |
| Hsd17b6 |
A |
T |
10: 127,829,625 (GRCm39) |
H192Q |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,716,638 (GRCm39) |
L622Q |
probably null |
Het |
| Kars1 |
G |
T |
8: 112,734,926 (GRCm39) |
A20E |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,431,771 (GRCm39) |
D197G |
probably damaging |
Het |
| Mapk9 |
T |
A |
11: 49,774,126 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,545,426 (GRCm39) |
D1367E |
probably damaging |
Het |
| Oaz1 |
G |
A |
10: 80,664,176 (GRCm39) |
S84N |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,296,314 (GRCm39) |
R507G |
possibly damaging |
Het |
| Or1j16 |
T |
G |
2: 36,530,894 (GRCm39) |
V281G |
possibly damaging |
Het |
| Or5p6 |
A |
G |
7: 107,630,789 (GRCm39) |
F254L |
probably benign |
Het |
| Or8g24 |
A |
T |
9: 38,989,533 (GRCm39) |
C169* |
probably null |
Het |
| Pclo |
T |
A |
5: 14,816,745 (GRCm39) |
D4540E |
unknown |
Het |
| Ppp6r1 |
A |
G |
7: 4,646,251 (GRCm39) |
V150A |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,658 (GRCm39) |
D544G |
probably benign |
Het |
| Rab27b |
A |
G |
18: 70,120,067 (GRCm39) |
I128T |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,827,869 (GRCm39) |
E26K |
probably benign |
Het |
| Slc25a1 |
G |
T |
16: 17,743,684 (GRCm39) |
T195K |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,459,915 (GRCm39) |
N479D |
probably benign |
Het |
| Thsd7b |
G |
T |
1: 129,556,622 (GRCm39) |
W326L |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,797,042 (GRCm39) |
D60G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,615,625 (GRCm39) |
R14984H |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,578,220 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
A |
G |
19: 55,487,703 (GRCm39) |
K183R |
probably benign |
Het |
| Zkscan16 |
T |
C |
4: 58,956,915 (GRCm39) |
V399A |
probably benign |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation