Incidental Mutation 'R3779:Uba2'
| ID |
271963 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3779 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
33840121-33868014 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 33854071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102746]
[ENSMUST00000175991]
|
| AlphaFold |
Q9Z1F9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102746
|
| SMART Domains |
Protein: ENSMUSP00000099807
Gene: ENSMUSG00000052997
| 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 |
probably benign
Transcript: ENSMUST00000134856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139916
|
| 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 |
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (47/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
A |
G |
16: 88,424,273 (GRCm39) |
C73R |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,665,628 (GRCm39) |
V371A |
probably damaging |
Het |
| Ambn |
C |
A |
5: 88,613,201 (GRCm39) |
|
probably benign |
Het |
| Ankrd34a |
T |
C |
3: 96,506,247 (GRCm39) |
F484L |
possibly damaging |
Het |
| Bcl11a |
A |
G |
11: 24,114,568 (GRCm39) |
K637R |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 134,962,337 (GRCm39) |
S1968P |
possibly damaging |
Het |
| Cfap61 |
T |
C |
2: 145,792,714 (GRCm39) |
I52T |
probably damaging |
Het |
| Cit |
A |
T |
5: 115,997,400 (GRCm39) |
M128L |
probably benign |
Het |
| Cnga1 |
G |
T |
5: 72,762,126 (GRCm39) |
L463I |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,094,448 (GRCm39) |
|
probably benign |
Het |
| Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
G |
5: 110,839,515 (GRCm39) |
I1853T |
unknown |
Het |
| Flg2 |
C |
T |
3: 93,109,730 (GRCm39) |
S586L |
unknown |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm21886 |
G |
T |
18: 80,132,649 (GRCm39) |
Q170K |
possibly damaging |
Het |
| Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
| Gm9376 |
T |
C |
14: 118,504,727 (GRCm39) |
V53A |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,500,574 (GRCm39) |
T90A |
probably damaging |
Het |
| Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,206,428 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Jak1 |
G |
A |
4: 101,013,687 (GRCm39) |
H1014Y |
probably benign |
Het |
| Klrb1c |
T |
C |
6: 128,757,306 (GRCm39) |
D253G |
probably damaging |
Het |
| Lpin1 |
G |
A |
12: 16,614,569 (GRCm39) |
T404M |
probably damaging |
Het |
| Map3k9 |
A |
T |
12: 81,790,565 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,039,926 (GRCm39) |
|
probably benign |
Het |
| Myl12a |
G |
T |
17: 71,301,631 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Or6c38 |
A |
G |
10: 128,929,165 (GRCm39) |
F226S |
possibly damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,205,738 (GRCm39) |
S575T |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,569,118 (GRCm39) |
Y1247C |
probably damaging |
Het |
| Pinlyp |
T |
A |
7: 24,241,260 (GRCm39) |
T181S |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,499,741 (GRCm39) |
V928A |
possibly damaging |
Het |
| Skint5 |
C |
T |
4: 113,636,237 (GRCm39) |
|
probably benign |
Het |
| Slc24a1 |
A |
G |
9: 64,855,579 (GRCm39) |
Y443H |
unknown |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
| Syncrip |
A |
C |
9: 88,358,992 (GRCm39) |
D172E |
probably damaging |
Het |
| Tex26 |
T |
C |
5: 149,369,316 (GRCm39) |
I48T |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,853,403 (GRCm39) |
I1808L |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,339,762 (GRCm39) |
|
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Wrn |
T |
A |
8: 33,731,048 (GRCm39) |
R1095W |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,319,717 (GRCm39) |
N315K |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGAGCACAGGAACAACAC -3'
(R):5'- AAAATACTGTGCAATCCTGATGTGG -3'
Sequencing Primer
(F):5'- TCTACAGAGTGAGCTCCAGGAC -3'
(R):5'- CAATCCTGATGTGGTGTTAGAGCATC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation