Incidental Mutation 'R1066:Uba2'
| ID |
86002 |
| 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 |
039152-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1066 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
33840121-33868014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33858247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 70
(F70I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102746]
[ENSMUST00000156253]
[ENSMUST00000175991]
|
| AlphaFold |
Q9Z1F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102746
AA Change: F193I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099807
Gene: ENSMUSG00000052997
AA Change: F193I
| 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 |
unknown
Transcript: ENSMUST00000134856
AA Change: F106I
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156253
|
| SMART Domains |
Protein: ENSMUSP00000116605
Gene: ENSMUSG00000052997
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
10 |
119 |
1e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175991
AA Change: F70I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135885
Gene: ENSMUSG00000052997
AA Change: F70I
| 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: ENSMUST00000206651
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
T |
A |
9: 30,867,837 (GRCm39) |
C554S |
probably damaging |
Het |
| Adarb2 |
T |
G |
13: 8,807,359 (GRCm39) |
F720C |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,934,186 (GRCm39) |
D572G |
probably benign |
Het |
| BB014433 |
C |
T |
8: 15,092,185 (GRCm39) |
V223M |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,311,047 (GRCm39) |
|
probably null |
Het |
| Brf2 |
T |
C |
8: 27,613,974 (GRCm39) |
E404G |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,782,288 (GRCm39) |
H380Q |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,712,764 (GRCm39) |
Y389* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,777,361 (GRCm39) |
F1182L |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,338,645 (GRCm39) |
W3169L |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,660,232 (GRCm39) |
E802D |
probably damaging |
Het |
| Dtx4 |
G |
T |
19: 12,478,373 (GRCm39) |
T70K |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,745,833 (GRCm39) |
V57E |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,696,899 (GRCm39) |
Y424F |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,898,463 (GRCm39) |
E701G |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 147,009,397 (GRCm39) |
V412A |
probably benign |
Het |
| Mkln1 |
A |
C |
6: 31,395,922 (GRCm39) |
N52T |
possibly damaging |
Het |
| Msantd5f6 |
C |
A |
4: 73,320,066 (GRCm39) |
V238L |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,770,577 (GRCm39) |
M1519L |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5b113 |
T |
C |
19: 13,342,451 (GRCm39) |
M153T |
probably benign |
Het |
| P4ha3 |
G |
T |
7: 99,967,270 (GRCm39) |
V360L |
possibly damaging |
Het |
| Pals2 |
A |
T |
6: 50,122,847 (GRCm39) |
N31I |
possibly damaging |
Het |
| Phf14 |
T |
A |
6: 11,987,254 (GRCm39) |
D611E |
possibly damaging |
Het |
| Pik3r1 |
T |
A |
13: 101,825,171 (GRCm39) |
R465S |
probably damaging |
Het |
| Reep3 |
G |
T |
10: 66,870,445 (GRCm39) |
T117K |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,239,662 (GRCm39) |
N868K |
probably damaging |
Het |
| Sdcbp |
T |
G |
4: 6,385,120 (GRCm39) |
I113S |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,589,281 (GRCm39) |
V615E |
possibly damaging |
Het |
| Slc25a18 |
A |
G |
6: 120,765,249 (GRCm39) |
|
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Usp42 |
A |
T |
5: 143,703,796 (GRCm39) |
H422Q |
probably damaging |
Het |
| Vmn2r86 |
C |
T |
10: 130,282,145 (GRCm39) |
V824I |
probably benign |
Het |
| Vps50 |
A |
C |
6: 3,533,565 (GRCm39) |
T266P |
probably damaging |
Het |
| Znhit6 |
T |
A |
3: 145,284,252 (GRCm39) |
D141E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTATCCACATCTACCCGCAAAGTC -3'
(R):5'- GGTAACCGCTTTCCCATGTCCTAATG -3'
Sequencing Primer
(F):5'- aaccacagcctcaggaatac -3'
(R):5'- CCTAATGTTATAGGGTGTGACTGAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation