Incidental Mutation 'R3618:Uba2'
| ID |
268516 |
| 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 |
040675-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3618 (G1)
|
| Quality Score |
144 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
33840121-33868014 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 33853907 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,774,168 (GRCm39) |
E1119G |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,749,842 (GRCm39) |
I132T |
probably damaging |
Het |
| Arhgap29 |
G |
A |
3: 121,782,176 (GRCm39) |
D63N |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,994,760 (GRCm39) |
|
probably null |
Het |
| Cfap161 |
A |
C |
7: 83,429,390 (GRCm39) |
Y209* |
probably null |
Het |
| Drp2 |
A |
C |
X: 133,340,717 (GRCm39) |
D458A |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,834,270 (GRCm39) |
H446R |
probably benign |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| F13a1 |
G |
A |
13: 37,127,967 (GRCm39) |
T337I |
probably damaging |
Het |
| Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
| Hcfc1 |
A |
T |
X: 72,993,694 (GRCm39) |
V1157D |
probably benign |
Het |
| Inava |
A |
C |
1: 136,142,110 (GRCm39) |
V663G |
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,277,353 (GRCm39) |
D374G |
probably null |
Het |
| Kif1a |
T |
C |
1: 93,004,765 (GRCm39) |
E143G |
probably null |
Het |
| Larp1 |
A |
T |
11: 57,948,172 (GRCm39) |
E990D |
probably benign |
Het |
| Larp7 |
C |
A |
3: 127,330,614 (GRCm39) |
E568* |
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,217,787 (GRCm39) |
S298R |
probably damaging |
Het |
| Mcm10 |
A |
G |
2: 5,001,913 (GRCm39) |
|
probably null |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Mroh1 |
A |
G |
15: 76,336,546 (GRCm39) |
T1590A |
possibly damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,249,709 (GRCm39) |
H1198Q |
possibly damaging |
Het |
| Ogg1 |
A |
G |
6: 113,305,334 (GRCm39) |
E49G |
probably damaging |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Parp3 |
T |
C |
9: 106,352,262 (GRCm39) |
E88G |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,735,965 (GRCm39) |
I156T |
probably benign |
Het |
| Pus7l |
T |
A |
15: 94,425,788 (GRCm39) |
I538F |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,787,466 (GRCm39) |
|
probably null |
Het |
| Slc8a2 |
A |
G |
7: 15,886,824 (GRCm39) |
N656D |
possibly damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tbcel |
T |
C |
9: 42,372,591 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,186,281 (GRCm39) |
I691F |
probably damaging |
Het |
| Usp53 |
A |
C |
3: 122,728,061 (GRCm39) |
S840R |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,743,692 (GRCm39) |
I452F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
| Zfp42 |
T |
C |
8: 43,748,938 (GRCm39) |
R188G |
possibly 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 |
|
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'- CCTTGGAGCACAGGAACAAC -3'
(R):5'- GCCACAAGTTGAATCTGTTGAATAG -3'
Sequencing Primer
(F):5'- CACAAGTGAGGTATCTGAGGC -3'
(R):5'- AGTTGAATCTGTTGAATAGAGCAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation