Incidental Mutation 'R8961:Uba2'
ID |
720410 |
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 |
068795-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8961 (G1)
|
Quality Score |
151.008 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
33840121-33868014 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 33855642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102746]
[ENSMUST00000175991]
|
AlphaFold |
Q9Z1F9 |
Predicted Effect |
probably benign
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700064H15Rik |
T |
A |
3: 19,664,633 (GRCm39) |
|
probably benign |
Het |
Angptl6 |
T |
C |
9: 20,789,467 (GRCm39) |
T142A |
probably benign |
Het |
Atp6v1b2 |
A |
G |
8: 69,555,414 (GRCm39) |
I202V |
probably benign |
Het |
B3gat2 |
A |
T |
1: 23,801,900 (GRCm39) |
D62V |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,929,573 (GRCm39) |
D1211G |
possibly damaging |
Het |
Ccp110 |
T |
G |
7: 118,322,110 (GRCm39) |
D588E |
probably damaging |
Het |
Cdh6 |
A |
T |
15: 13,041,447 (GRCm39) |
I539K |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,467,489 (GRCm39) |
|
probably benign |
Het |
Crim1 |
T |
C |
17: 78,680,117 (GRCm39) |
S953P |
possibly damaging |
Het |
Dennd2a |
T |
C |
6: 39,462,555 (GRCm39) |
K652E |
probably damaging |
Het |
Dnajb3 |
T |
A |
1: 88,132,998 (GRCm39) |
R135* |
probably null |
Het |
Dnajc25 |
T |
A |
4: 59,020,438 (GRCm39) |
M168K |
|
Het |
Elfn2 |
T |
C |
15: 78,557,378 (GRCm39) |
S390G |
probably benign |
Het |
Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
Fam135b |
T |
A |
15: 71,404,812 (GRCm39) |
N78I |
probably damaging |
Het |
Flot2 |
G |
A |
11: 77,945,632 (GRCm39) |
|
probably benign |
Het |
Gm10277 |
T |
A |
11: 77,677,826 (GRCm39) |
|
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,470,666 (GRCm39) |
V2198A |
possibly damaging |
Het |
Kndc1 |
T |
A |
7: 139,503,976 (GRCm39) |
F1093L |
possibly damaging |
Het |
Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
Kpna4 |
T |
C |
3: 68,986,821 (GRCm39) |
T523A |
probably benign |
Het |
Krt39 |
T |
C |
11: 99,409,931 (GRCm39) |
D202G |
possibly damaging |
Het |
Loxhd1 |
C |
T |
18: 77,472,765 (GRCm39) |
T985M |
probably damaging |
Het |
Mdc1 |
T |
C |
17: 36,159,407 (GRCm39) |
S596P |
probably benign |
Het |
Misp |
A |
G |
10: 79,663,823 (GRCm39) |
Q599R |
probably benign |
Het |
Mogs |
C |
A |
6: 83,092,720 (GRCm39) |
F53L |
probably benign |
Het |
Mthfr |
A |
T |
4: 148,128,099 (GRCm39) |
N167Y |
probably damaging |
Het |
Nod1 |
C |
T |
6: 54,926,461 (GRCm39) |
E53K |
probably damaging |
Het |
Or1j11 |
A |
T |
2: 36,312,177 (GRCm39) |
I256F |
probably damaging |
Het |
Or52l1 |
A |
G |
7: 104,830,376 (GRCm39) |
I48T |
possibly damaging |
Het |
Or5m5 |
T |
A |
2: 85,814,610 (GRCm39) |
M142K |
probably damaging |
Het |
Or6c5c |
C |
T |
10: 129,299,225 (GRCm39) |
P227S |
probably damaging |
Het |
Or6z5 |
T |
C |
7: 6,477,763 (GRCm39) |
V218A |
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,726,717 (GRCm39) |
I2263T |
possibly damaging |
Het |
Rbbp8 |
T |
C |
18: 11,865,262 (GRCm39) |
M717T |
probably benign |
Het |
Rest |
A |
G |
5: 77,416,482 (GRCm39) |
H232R |
probably damaging |
Het |
Rps6ka1 |
A |
G |
4: 133,587,362 (GRCm39) |
|
probably null |
Het |
Rtf1 |
T |
A |
2: 119,557,377 (GRCm39) |
F465I |
probably benign |
Het |
Skil |
T |
C |
3: 31,167,729 (GRCm39) |
S454P |
probably benign |
Het |
Snx13 |
T |
C |
12: 35,155,285 (GRCm39) |
Y450H |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,647,414 (GRCm39) |
E971V |
possibly damaging |
Het |
Sqle |
T |
A |
15: 59,187,695 (GRCm39) |
M1K |
probably null |
Het |
Srcap |
C |
G |
7: 127,141,101 (GRCm39) |
P1566R |
probably damaging |
Het |
Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
Tmc3 |
T |
C |
7: 83,256,970 (GRCm39) |
Y408H |
probably damaging |
Het |
Unc13c |
G |
T |
9: 73,839,524 (GRCm39) |
N442K |
probably benign |
Het |
Vmn1r21 |
T |
A |
6: 57,820,829 (GRCm39) |
H205L |
probably damaging |
Het |
Vwa7 |
C |
T |
17: 35,238,086 (GRCm39) |
T229I |
probably damaging |
Het |
Washc4 |
A |
G |
10: 83,409,657 (GRCm39) |
D602G |
probably damaging |
Het |
Zcchc9 |
C |
A |
13: 91,953,955 (GRCm39) |
|
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 |
|
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 |
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'- CAGAGTTTGTCCATTGTCAGC -3'
(R):5'- AGAACCCTTAGCTCTCCTTAGC -3'
Sequencing Primer
(F):5'- GAGTTTGTCCATTGTCAGCAGATATC -3'
(R):5'- AGCTCTCCTTAGCCTCCCTAGG -3'
|
Posted On |
2022-08-08 |