Incidental Mutation 'R7050:Uba2'
ID |
547529 |
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 |
045241-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7050 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
33840121-33868014 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 33845687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 479
(Q479*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099807
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102746]
[ENSMUST00000152037]
[ENSMUST00000175991]
|
AlphaFold |
Q9Z1F9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000102746
AA Change: Q479*
|
SMART Domains |
Protein: ENSMUSP00000099807 Gene: ENSMUSG00000052997 AA Change: Q479*
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: 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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
96% (47/49) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,864,544 (GRCm39) |
A346V |
possibly damaging |
Het |
Adcy5 |
A |
T |
16: 35,124,070 (GRCm39) |
M1250L |
possibly damaging |
Het |
Arhgef38 |
T |
C |
3: 132,839,388 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
A |
10: 50,716,446 (GRCm39) |
I1944N |
probably benign |
Het |
Cabin1 |
G |
T |
10: 75,549,376 (GRCm39) |
P1343Q |
probably damaging |
Het |
Cbr3 |
A |
T |
16: 93,487,282 (GRCm39) |
Q155L |
possibly damaging |
Het |
Cd44 |
A |
G |
2: 102,644,482 (GRCm39) |
V577A |
probably damaging |
Het |
Coil |
C |
T |
11: 88,872,014 (GRCm39) |
T125I |
possibly damaging |
Het |
Fmo3 |
T |
C |
1: 162,791,473 (GRCm39) |
N268S |
probably damaging |
Het |
Fnip2 |
T |
C |
3: 79,413,577 (GRCm39) |
T248A |
probably damaging |
Het |
Ggt7 |
G |
A |
2: 155,348,295 (GRCm39) |
T43I |
probably benign |
Het |
Gm3250 |
C |
A |
10: 77,617,814 (GRCm39) |
C188F |
possibly damaging |
Het |
Iqce |
G |
A |
5: 140,651,846 (GRCm39) |
S375F |
possibly damaging |
Het |
Iqgap3 |
A |
G |
3: 88,006,220 (GRCm39) |
T544A |
probably damaging |
Het |
Islr |
A |
G |
9: 58,065,000 (GRCm39) |
L169P |
probably damaging |
Het |
Kdr |
G |
T |
5: 76,110,780 (GRCm39) |
T904N |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,503,158 (GRCm39) |
T974A |
possibly damaging |
Het |
Mms19 |
A |
G |
19: 41,939,185 (GRCm39) |
|
probably null |
Het |
Mycl |
T |
C |
4: 122,890,813 (GRCm39) |
|
probably null |
Het |
Nab1 |
A |
T |
1: 52,529,894 (GRCm39) |
M1K |
probably null |
Het |
Naip6 |
C |
T |
13: 100,452,007 (GRCm39) |
G202R |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,457,788 (GRCm39) |
S2159L |
probably damaging |
Het |
Neb |
A |
T |
2: 52,112,888 (GRCm39) |
M4302K |
possibly damaging |
Het |
Npy1r |
A |
G |
8: 67,157,192 (GRCm39) |
D204G |
probably benign |
Het |
Or2q1 |
T |
A |
6: 42,794,504 (GRCm39) |
V33D |
possibly damaging |
Het |
Pkdcc |
T |
A |
17: 83,523,073 (GRCm39) |
I60N |
possibly damaging |
Het |
Plcxd3 |
T |
C |
15: 4,546,200 (GRCm39) |
V68A |
probably damaging |
Het |
Prss36 |
G |
T |
7: 127,543,937 (GRCm39) |
R145S |
possibly damaging |
Het |
Pygl |
C |
A |
12: 70,266,396 (GRCm39) |
G40C |
probably damaging |
Het |
Rev1 |
A |
G |
1: 38,093,352 (GRCm39) |
L1064P |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Serpina3k |
T |
C |
12: 104,307,403 (GRCm39) |
F212L |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,148 (GRCm39) |
E219D |
probably benign |
Het |
Slc6a20b |
A |
T |
9: 123,427,608 (GRCm39) |
W434R |
probably damaging |
Het |
Slco1c1 |
T |
A |
6: 141,493,652 (GRCm39) |
F278Y |
probably damaging |
Het |
Tbx21 |
T |
G |
11: 97,005,596 (GRCm39) |
D123A |
probably benign |
Het |
Trp73 |
A |
G |
4: 154,165,899 (GRCm39) |
F35L |
probably damaging |
Het |
Tspan17 |
T |
C |
13: 54,943,876 (GRCm39) |
V135A |
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,272,528 (GRCm39) |
V889A |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,590,067 (GRCm39) |
|
probably null |
Het |
Vinac1 |
T |
C |
2: 128,869,891 (GRCm39) |
|
probably null |
Het |
Vmn1r45 |
A |
T |
6: 89,910,703 (GRCm39) |
I89N |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,202,657 (GRCm39) |
I140T |
probably benign |
Het |
Yipf2 |
A |
T |
9: 21,503,474 (GRCm39) |
D24E |
probably benign |
Het |
Zfp251 |
T |
G |
15: 76,738,496 (GRCm39) |
Q199P |
possibly damaging |
Het |
Zfp37 |
A |
T |
4: 62,109,908 (GRCm39) |
N385K |
possibly damaging |
Het |
Zfp655 |
G |
A |
5: 145,181,545 (GRCm39) |
E468K |
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 |
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'- AGAAGCCACTGCCATGACTG -3'
(R):5'- CTCCCCAGTGGAAAAGTTAACTTG -3'
Sequencing Primer
(F):5'- ACTGCCATGACTGTGATAGC -3'
(R):5'- GGTCTTTAATTACCTACATT -3'
|
Posted On |
2019-05-13 |