Incidental Mutation 'IGL01710:Uba1'
ID 104746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uba1
Ensembl Gene ENSMUSG00000001924
Gene Name ubiquitin-like modifier activating enzyme 1
Synonyms Sbx, Ube1x, A1S9, Ube-1
Accession Numbers
Essential gene? Not available question?
Stock # IGL01710
Quality Score
Status
Chromosome X
Chromosomal Location 20524565-20549418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20537604 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q02053
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: 62,004,645 (GRCm39) T48I probably damaging Het
Ccpg1 T C 9: 72,904,723 (GRCm39) probably benign Het
Chkb G A 15: 89,310,843 (GRCm39) Q379* probably null Het
Chst15 T A 7: 131,872,236 (GRCm39) D15V probably benign Het
Cntn4 G A 6: 106,527,392 (GRCm39) V425I possibly damaging Het
Cpa6 T A 1: 10,395,497 (GRCm39) N390I probably damaging Het
Efhd2 A G 4: 141,587,872 (GRCm39) F193S probably damaging Het
Ell3 T C 2: 121,271,993 (GRCm39) H128R probably damaging Het
Ercc5 T G 1: 44,203,235 (GRCm39) L291V probably damaging Het
Eva1c A G 16: 90,701,235 (GRCm39) Y302C probably damaging Het
Fmo3 A C 1: 162,810,612 (GRCm39) L26R probably damaging Het
Galntl6 T A 8: 58,989,002 (GRCm39) D17V probably damaging Het
Gm6483 C T 8: 19,741,629 (GRCm39) P55S probably damaging Het
Gstt2 A G 10: 75,669,579 (GRCm39) probably benign Het
Hmcn2 T A 2: 31,233,114 (GRCm39) L221Q probably damaging Het
Hoxa3 T C 6: 52,147,554 (GRCm39) probably benign Het
Kctd12b T C X: 152,472,479 (GRCm39) D70G probably damaging Het
Kdm7a T A 6: 39,152,320 (GRCm39) E125D probably benign Het
Klk1b21 T A 7: 43,755,919 (GRCm39) F249L probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Nomo1 T A 7: 45,687,980 (GRCm39) L82Q probably damaging Het
Or5p58 G T 7: 107,694,449 (GRCm39) F109L probably benign Het
Papolg A T 11: 23,814,026 (GRCm39) S718T probably damaging Het
Pex6 A G 17: 47,036,252 (GRCm39) probably benign Het
Pi4k2a T A 19: 42,093,418 (GRCm39) L253Q probably damaging Het
Prdx6b T A 2: 80,123,490 (GRCm39) F100I probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Ptgfrn T C 3: 100,980,404 (GRCm39) E312G probably damaging Het
Rasgrf1 A G 9: 89,873,745 (GRCm39) I685V probably benign Het
Setdb1 T C 3: 95,246,164 (GRCm39) E586G probably damaging Het
Sez6l2 C A 7: 126,567,388 (GRCm39) T841K probably damaging Het
Slc25a17 A T 15: 81,211,527 (GRCm39) L163* probably null Het
Slc35f3 A T 8: 127,115,900 (GRCm39) I276F probably benign Het
Tcerg1l T A 7: 137,996,789 (GRCm39) K149N possibly damaging Het
Tex28 T A X: 73,195,939 (GRCm39) K278* probably null Het
Tmprss9 A G 10: 80,733,793 (GRCm39) probably benign Het
Tnfaip8l1 A G 17: 56,478,782 (GRCm39) K24R probably benign Het
Trim36 T C 18: 46,321,455 (GRCm39) probably benign Het
Ubr2 T C 17: 47,254,335 (GRCm39) T1439A probably benign Het
Ubr4 A G 4: 139,145,772 (GRCm39) D1523G possibly damaging Het
Uchl4 A T 9: 64,142,788 (GRCm39) T90S probably benign Het
Other mutations in Uba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Uba1 APN X 20,545,964 (GRCm39) missense probably damaging 1.00
IGL02513:Uba1 APN X 20,541,885 (GRCm39) missense probably benign 0.03
IGL02537:Uba1 APN X 20,544,902 (GRCm39) missense possibly damaging 0.75
IGL02974:Uba1 APN X 20,544,959 (GRCm39) missense probably benign 0.10
IGL03271:Uba1 APN X 20,541,956 (GRCm39) missense probably damaging 1.00
Z1177:Uba1 UTSW X 20,547,658 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21