Incidental Mutation 'R6293:Uba3'
ID 508549
Institutional Source Beutler Lab
Gene Symbol Uba3
Ensembl Gene ENSMUSG00000030061
Gene Name ubiquitin-like modifier activating enzyme 3
Synonyms A830034N06Rik, ubiquitin activating enzyme 3, Ube1c
MMRRC Submission 044462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6293 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 97160631-97182608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97173869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 105 (D105E)
Ref Sequence ENSEMBL: ENSMUSP00000130954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089287] [ENSMUST00000164744] [ENSMUST00000204056]
AlphaFold Q8C878
Predicted Effect probably damaging
Transcript: ENSMUST00000089287
AA Change: D119E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086701
Gene: ENSMUSG00000030061
AA Change: D119E

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:ThiF 53 369 2.6e-69 PFAM
E2_bind 374 462 1.02e-40 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164744
AA Change: D105E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061
AA Change: D105E

DomainStartEndE-ValueType
Pfam:ThiF 54 199 1.5e-41 PFAM
Pfam:UBA_e1_thiolCys 202 248 8.7e-15 PFAM
Pfam:UBACT 255 321 9e-25 PFAM
E2_bind 360 448 1.02e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204056
SMART Domains Protein: ENSMUSP00000145309
Gene: ENSMUSG00000030061

DomainStartEndE-ValueType
low complexity region 5 56 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204917
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: The protein encoded by this gene is the catalytic subunit of the enzyme that activates NEDD8, a ubiquitin-like molecule that binds to its target proteins through an enzymatic reaction analagous to ubiquitylation. Embryonic mice deficient for this protein die prior to implantation and display apoptosis of the inner cell mass. Trophoblastic cells cannot enter S phase, demonstrating that this gene is required for cell cycle progression during embryogenesis. Two pseudogenes have been found for this gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mutants die at the peri-implantation stage. Mutants exhibit selective apoptosis of the inner cell mass but not of trophoblastic cells. Moreover, the trophoblastic cells fail to enter the S phase of the endoreduplication cycle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Abcb1b T C 5: 8,903,493 (GRCm39) I1048T probably benign Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Alkbh8 G T 9: 3,347,841 (GRCm39) L211F possibly damaging Het
Ankrd27 T C 7: 35,307,885 (GRCm39) S375P possibly damaging Het
Apoc1 T A 7: 19,425,817 (GRCm39) T68S probably damaging Het
Arfgef2 T A 2: 166,715,508 (GRCm39) Y1318N possibly damaging Het
Camsap2 C A 1: 136,215,658 (GRCm39) R345L probably damaging Het
Ccdc38 C T 10: 93,398,659 (GRCm39) Q46* probably null Het
Cdk12 T A 11: 98,115,379 (GRCm39) M840K unknown Het
Cfap251 A C 5: 123,460,511 (GRCm39) N1158H probably damaging Het
Col12a1 A T 9: 79,521,640 (GRCm39) N2772K probably benign Het
Dthd1 A G 5: 63,000,193 (GRCm39) D505G probably damaging Het
Elf1 C T 14: 79,798,226 (GRCm39) H38Y probably damaging Het
Gcnt2 T A 13: 41,072,173 (GRCm39) V272D probably damaging Het
Gm9964 T A 11: 79,187,420 (GRCm39) K9M unknown Het
Gpr155 A G 2: 73,204,341 (GRCm39) S158P possibly damaging Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hmcn2 T C 2: 31,225,463 (GRCm39) I124T probably damaging Het
Hydin A G 8: 111,324,543 (GRCm39) S4635G possibly damaging Het
Lrch2 C T X: 146,263,553 (GRCm39) A369T probably damaging Homo
Lrrc8c A G 5: 105,754,612 (GRCm39) Y129C probably damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mcm3ap C G 10: 76,307,312 (GRCm39) Y418* probably null Het
Mpdz A G 4: 81,278,293 (GRCm39) L764P probably damaging Het
Myt1l A G 12: 29,877,627 (GRCm39) D426G unknown Het
Ndel1 C T 11: 68,727,101 (GRCm39) R192H probably damaging Het
Nudt21 T C 8: 94,755,506 (GRCm39) D134G probably damaging Het
Nup210l A T 3: 90,022,371 (GRCm39) H113L probably damaging Het
Nxf1 A G 19: 8,746,546 (GRCm39) K586E probably damaging Het
Or2ag15 T C 7: 106,340,613 (GRCm39) H176R probably damaging Het
Or4s2 A G 2: 88,473,624 (GRCm39) E171G possibly damaging Het
Osbpl8 A G 10: 111,108,099 (GRCm39) Y365C possibly damaging Het
Pkd2l2 A G 18: 34,560,497 (GRCm39) Y368C probably damaging Het
Pkn2 A G 3: 142,515,465 (GRCm39) F649L probably benign Het
Pla2g4a T C 1: 149,755,798 (GRCm39) Y205C probably damaging Het
Prex2 A G 1: 11,232,522 (GRCm39) N863S probably benign Het
Prkdc A G 16: 15,605,019 (GRCm39) K2979R probably benign Het
Ptk6 T C 2: 180,840,253 (GRCm39) Y251C probably damaging Het
Rapgef6 T A 11: 54,525,607 (GRCm39) W334R probably damaging Het
Rbm11 A T 16: 75,393,655 (GRCm39) probably null Het
Rhbdl1 A G 17: 26,053,943 (GRCm39) L309P probably damaging Het
Rhbg G A 3: 88,153,133 (GRCm39) R274* probably null Het
Rpp30 A G 19: 36,081,845 (GRCm39) *269W probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Slc44a1 A G 4: 53,561,099 (GRCm39) K605R probably damaging Het
Slco2a1 A G 9: 102,927,346 (GRCm39) S80G probably benign Het
Tmem50b A T 16: 91,380,164 (GRCm39) M71K probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyro3 A G 2: 119,638,481 (GRCm39) T303A possibly damaging Het
Vmn1r21 T C 6: 57,821,255 (GRCm39) D63G probably benign Het
Vstm2b T A 7: 40,549,533 (GRCm39) I63N probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zscan22 T A 7: 12,640,834 (GRCm39) C359* probably null Het
Other mutations in Uba3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0295:Uba3 UTSW 6 97,168,544 (GRCm39) missense possibly damaging 0.71
R0554:Uba3 UTSW 6 97,168,221 (GRCm39) splice site probably null
R0780:Uba3 UTSW 6 97,163,666 (GRCm39) nonsense probably null
R1572:Uba3 UTSW 6 97,162,298 (GRCm39) splice site probably benign
R1759:Uba3 UTSW 6 97,173,865 (GRCm39) missense probably damaging 1.00
R1806:Uba3 UTSW 6 97,176,230 (GRCm39) missense possibly damaging 0.87
R2076:Uba3 UTSW 6 97,176,241 (GRCm39) missense probably damaging 1.00
R2907:Uba3 UTSW 6 97,180,514 (GRCm39) missense probably benign 0.00
R3237:Uba3 UTSW 6 97,163,201 (GRCm39) missense probably damaging 1.00
R5238:Uba3 UTSW 6 97,178,896 (GRCm39) nonsense probably null
R7198:Uba3 UTSW 6 97,182,512 (GRCm39) start codon destroyed probably null 0.02
R8066:Uba3 UTSW 6 97,178,882 (GRCm39) missense probably damaging 0.97
R8087:Uba3 UTSW 6 97,162,344 (GRCm39) missense possibly damaging 0.76
R9016:Uba3 UTSW 6 97,162,694 (GRCm39) nonsense probably null
R9100:Uba3 UTSW 6 97,163,671 (GRCm39) missense probably damaging 0.99
R9356:Uba3 UTSW 6 97,161,811 (GRCm39) missense probably benign 0.08
R9459:Uba3 UTSW 6 97,166,559 (GRCm39) missense probably benign 0.00
R9582:Uba3 UTSW 6 97,168,491 (GRCm39) missense probably damaging 0.96
R9801:Uba3 UTSW 6 97,162,635 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- TTCCTCACTAGAAAGGGGCTC -3'
(R):5'- CTGTCAGCAAGGGTTTAGTAACTATG -3'

Sequencing Primer
(F):5'- CCCTCGGACAGACCTTTTCG -3'
(R):5'- CTTGCAGAGGATTAAGGTTCAATGCC -3'
Posted On 2018-03-15