Incidental Mutation 'R3237:Uba3'
ID 259090
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 040619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3237 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 97160631-97182608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 97163201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 319 (T319K)
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: T333K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086701
Gene: ENSMUSG00000030061
AA Change: T333K

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: T319K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061
AA Change: T319K

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aff2 T A X: 68,907,543 (GRCm39) V1175E possibly damaging Het
Agbl3 A G 6: 34,800,022 (GRCm39) probably null Het
Bcar3 C A 3: 122,318,645 (GRCm39) Q678K probably benign Het
Ccm2 G A 11: 6,520,090 (GRCm39) V53I probably benign Het
Cd3e G T 9: 44,913,608 (GRCm39) C42* probably null Het
Cd4 A T 6: 124,844,633 (GRCm39) I384N probably benign Het
Ceacam11 T A 7: 17,707,379 (GRCm39) F54L probably benign Het
Cfap46 A G 7: 139,197,506 (GRCm39) S2122P probably damaging Het
Clptm1 A G 7: 19,369,271 (GRCm39) S461P probably damaging Het
Dlat T C 9: 50,549,331 (GRCm39) T518A possibly damaging Het
Dnah17 T C 11: 117,985,680 (GRCm39) T1466A probably benign Het
Dnah9 G A 11: 65,845,815 (GRCm39) T3023I probably benign Het
Fam181a T G 12: 103,282,348 (GRCm39) C84W possibly damaging Het
Gask1a C T 9: 121,793,935 (GRCm39) P30S possibly damaging Het
H2-Q6 C A 17: 35,644,676 (GRCm39) T155K probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Inpp5b A G 4: 124,674,279 (GRCm39) R329G probably benign Het
Klrb1f A T 6: 129,031,306 (GRCm39) I168L possibly damaging Het
Lama4 A T 10: 38,973,175 (GRCm39) I1581F probably damaging Het
Lipn A G 19: 34,046,138 (GRCm39) N37S probably benign Het
Lyzl4 T C 9: 121,413,233 (GRCm39) D65G probably benign Het
Med29 A G 7: 28,092,046 (GRCm39) probably benign Het
Myrip C A 9: 120,270,473 (GRCm39) D574E possibly damaging Het
N4bp3 A T 11: 51,536,761 (GRCm39) F104Y probably damaging Het
Nlrp9a A T 7: 26,270,810 (GRCm39) K892* probably null Het
Nsd1 T A 13: 55,460,701 (GRCm39) H2309Q possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Optn T C 2: 5,039,014 (GRCm39) S370G probably damaging Het
Pbrm1 T C 14: 30,754,432 (GRCm39) F151L probably damaging Het
Plekhs1 A T 19: 56,453,032 (GRCm39) probably null Het
Rpn1 A G 6: 88,080,396 (GRCm39) K565R probably benign Het
Rrh T C 3: 129,605,360 (GRCm39) Y110C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr1 C T 7: 28,769,075 (GRCm39) probably null Het
Scai C T 2: 39,040,326 (GRCm39) probably benign Het
Scap C G 9: 110,208,650 (GRCm39) P564A probably damaging Het
Setdb1 A G 3: 95,246,065 (GRCm39) V619A probably damaging Het
Slc41a3 T C 6: 90,613,847 (GRCm39) Y226H probably benign Het
Slf2 A G 19: 44,930,773 (GRCm39) I617V probably benign Het
Sned1 G A 1: 93,186,725 (GRCm39) R180Q probably benign Het
Spata22 T A 11: 73,236,713 (GRCm39) F340I probably damaging Het
St8sia3 T C 18: 64,402,886 (GRCm39) F175S probably damaging Het
Supt20 T C 3: 54,616,501 (GRCm39) S253P possibly damaging Het
Syngap1 T A 17: 27,176,067 (GRCm39) Y118* probably null Het
Szt2 A C 4: 118,240,231 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zc3hav1 A G 6: 38,296,650 (GRCm39) L751S probably damaging Het
Zfp804b T C 5: 6,819,239 (GRCm39) M1275V probably benign Het
Zgrf1 A G 3: 127,407,024 (GRCm39) D1597G probably damaging 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
R5238:Uba3 UTSW 6 97,178,896 (GRCm39) nonsense probably null
R6293:Uba3 UTSW 6 97,173,869 (GRCm39) missense probably damaging 1.00
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'- TGTTGCTACTTTAATGCTACTAACC -3'
(R):5'- AGGTTAGCGTTGCATTGATCC -3'

Sequencing Primer
(F):5'- CTTTCTCTCTGCTTCAAACGTGTAAG -3'
(R):5'- AAGGTGAAAGGAAGTTGTATTGTTTG -3'
Posted On 2015-01-23