Incidental Mutation 'R3793:Uba2'
| ID |
272650 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040755-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3793 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
33840121-33868014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 33845722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 467
(V467G)
|
| 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: V467G
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099807
Gene: ENSMUSG00000052997
AA Change: V467G
| 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
|
| Meta Mutation Damage Score |
0.8305 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,259,889 (GRCm39) |
T35A |
probably benign |
Het |
| Arhgap32 |
T |
A |
9: 32,166,669 (GRCm39) |
S435R |
probably damaging |
Het |
| Asic1 |
A |
T |
15: 99,569,906 (GRCm39) |
K76* |
probably null |
Het |
| B9d1 |
A |
G |
11: 61,398,448 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,619,876 (GRCm39) |
V207A |
possibly damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cnfn |
T |
C |
7: 25,067,805 (GRCm39) |
N45S |
probably benign |
Het |
| Col14a1 |
G |
T |
15: 55,226,909 (GRCm39) |
D220Y |
unknown |
Het |
| Csn1s1 |
T |
A |
5: 87,828,702 (GRCm39) |
Y274* |
probably null |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,600 (GRCm39) |
T140A |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,459,743 (GRCm39) |
|
probably benign |
Het |
| Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,414,925 (GRCm39) |
D1366N |
possibly damaging |
Het |
| Itga4 |
A |
G |
2: 79,109,472 (GRCm39) |
T224A |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,952,588 (GRCm39) |
M844L |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,651,345 (GRCm39) |
S46N |
probably damaging |
Het |
| Lhx1 |
A |
G |
11: 84,412,726 (GRCm39) |
S65P |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,685 (GRCm39) |
S208G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
| Nfrkb |
A |
T |
9: 31,321,228 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
| Nlrp14 |
A |
T |
7: 106,781,481 (GRCm39) |
Q226L |
probably benign |
Het |
| Ocln |
T |
C |
13: 100,635,402 (GRCm39) |
R496G |
possibly damaging |
Het |
| Or2b2b |
T |
C |
13: 21,859,153 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
A |
9: 19,938,359 (GRCm39) |
I292F |
probably damaging |
Het |
| Osgepl1 |
T |
C |
1: 53,359,406 (GRCm39) |
I305T |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,487 (GRCm39) |
N266S |
probably benign |
Het |
| Per1 |
A |
G |
11: 69,000,127 (GRCm39) |
E1273G |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,605,252 (GRCm39) |
Y1542H |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,190,994 (GRCm39) |
F252L |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,407,700 (GRCm39) |
D607E |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,086,916 (GRCm39) |
|
probably null |
Het |
| Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,622,033 (GRCm39) |
Y531C |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,870,087 (GRCm39) |
S61T |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,747,525 (GRCm39) |
S263P |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,465 (GRCm39) |
T239A |
probably benign |
Het |
| Wac |
T |
C |
18: 7,920,190 (GRCm39) |
V348A |
possibly damaging |
Het |
| Wdr3 |
A |
T |
3: 100,059,281 (GRCm39) |
M346K |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,578,331 (GRCm39) |
H467L |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCATGCTAACTCATGCAATG -3'
(R):5'- TAGCTCTCCCCAGTGGAAAAG -3'
Sequencing Primer
(F):5'- ATGAGCAGAGCCCAGCTTCTC -3'
(R):5'- GAAAAGCAGTATAGGTT -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation