Incidental Mutation 'IGL01710:Uba1'
ID104746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uba1
Ensembl Gene ENSMUSG00000001924
Gene Nameubiquitin-like modifier activating enzyme 1
SynonymsUbe1x, A1S9, Sbx, Ube-1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01710
Quality Score
Status
ChromosomeX
Chromosomal Location20658326-20683179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 20671365 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 274 (T274I)
Ref Sequence ENSEMBL: ENSMUSP00000086626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001989] [ENSMUST00000089217]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001989
AA Change: T274I

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001989
Gene: ENSMUSG00000001924
AA Change: T274I

DomainStartEndE-ValueType
Pfam:ThiF 71 202 5.3e-20 PFAM
Pfam:ThiF 467 611 3.4e-36 PFAM
Pfam:UBA_e1_thiolCys 613 657 1.6e-24 PFAM
Pfam:UBACT 753 820 3.8e-14 PFAM
Pfam:UBACT 848 916 2.1e-30 PFAM
UBA_e1_C 922 1053 1.1e-80 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000089217
AA Change: T274I

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086626
Gene: ENSMUSG00000001924
AA Change: T274I

DomainStartEndE-ValueType
Pfam:ThiF 55 450 5.9e-49 PFAM
Pfam:E1_FCCH 227 297 5.8e-37 PFAM
Pfam:E1_4HB 298 366 3.2e-28 PFAM
low complexity region 495 502 N/A INTRINSIC
Pfam:UBA_e1_thiolCys 638 884 1.3e-99 PFAM
low complexity region 886 900 N/A INTRINSIC
UBA_e1_C 922 1053 1.1e-80 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152235
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the ubiquitin-activating E1 family. The encoded protein initiates the ubiquitin activation and transfer cascade, catalyzing the first step in ubiquitin conjugation to mark cellular proteins for proteasome degradation. Ubiquitin activating enzymes use ATP to form a thioester between a conserved catalytic cysteine of the enzyme and the C-terminal carboxylate of ubiquitin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 61,871,574 T48I probably damaging Het
Ccpg1 T C 9: 72,997,441 probably benign Het
Chkb G A 15: 89,426,640 Q379* probably null Het
Chst15 T A 7: 132,270,507 D15V probably benign Het
Cntn4 G A 6: 106,550,431 V425I possibly damaging Het
Cpa6 T A 1: 10,325,272 N390I probably damaging Het
Efhd2 A G 4: 141,860,561 F193S probably damaging Het
Ell3 T C 2: 121,441,512 H128R probably damaging Het
Ercc5 T G 1: 44,164,075 L291V probably damaging Het
Eva1c A G 16: 90,904,347 Y302C probably damaging Het
Fmo3 A C 1: 162,983,043 L26R probably damaging Het
Galntl6 T A 8: 58,535,968 D17V probably damaging Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Gstt2 A G 10: 75,833,745 probably benign Het
Hmcn2 T A 2: 31,343,102 L221Q probably damaging Het
Hoxa3 T C 6: 52,170,574 probably benign Het
Kctd12b T C X: 153,689,483 D70G probably damaging Het
Kdm7a T A 6: 39,175,386 E125D probably benign Het
Klk1b21 T A 7: 44,106,495 F249L probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Nomo1 T A 7: 46,038,556 L82Q probably damaging Het
Olfr482 G T 7: 108,095,242 F109L probably benign Het
Papolg A T 11: 23,864,026 S718T probably damaging Het
Pex6 A G 17: 46,725,326 probably benign Het
Pi4k2a T A 19: 42,104,979 L253Q probably damaging Het
Prdx6b T A 2: 80,293,146 F100I probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Ptgfrn T C 3: 101,073,088 E312G probably damaging Het
Rasgrf1 A G 9: 89,991,692 I685V probably benign Het
Setdb1 T C 3: 95,338,853 E586G probably damaging Het
Sez6l2 C A 7: 126,968,216 T841K probably damaging Het
Slc25a17 A T 15: 81,327,326 L163* probably null Het
Slc35f3 A T 8: 126,389,161 I276F probably benign Het
Tcerg1l T A 7: 138,395,060 K149N possibly damaging Het
Tex28 T A X: 74,152,333 K278* probably null Het
Tmprss9 A G 10: 80,897,959 probably benign Het
Tnfaip8l1 A G 17: 56,171,782 K24R probably benign Het
Trim36 T C 18: 46,188,388 probably benign Het
Ubr2 T C 17: 46,943,409 T1439A probably benign Het
Ubr4 A G 4: 139,418,461 D1523G possibly damaging Het
Uchl4 A T 9: 64,235,506 T90S probably benign Het
Other mutations in Uba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Uba1 APN X 20679725 missense probably damaging 1.00
IGL02513:Uba1 APN X 20675646 missense probably benign 0.03
IGL02537:Uba1 APN X 20678663 missense possibly damaging 0.75
IGL02974:Uba1 APN X 20678720 missense probably benign 0.10
IGL03271:Uba1 APN X 20675717 missense probably damaging 1.00
Posted On2014-01-21