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) question?
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*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:1Y8R|E 1 66 8e-37 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000175991
SMART Domains Protein: ENSMUSP00000135885
Gene: ENSMUSG00000052997

DomainStartEndE-ValueType
Pfam:UBA_e1_thiolCys 31 75 5.3e-26 PFAM
low complexity region 88 105 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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