Incidental Mutation 'IGL02063:Uba1'
ID 185499
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 # IGL02063
Quality Score
Status
Chromosome X
Chromosomal Location 20524565-20549418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20545964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 803 (S803P)
Ref Sequence ENSEMBL: ENSMUSP00000086626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001989] [ENSMUST00000089217]
AlphaFold Q02053
Predicted Effect probably damaging
Transcript: ENSMUST00000001989
AA Change: S803P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001989
Gene: ENSMUSG00000001924
AA Change: S803P

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 probably damaging
Transcript: ENSMUST00000089217
AA Change: S803P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086626
Gene: ENSMUSG00000001924
AA Change: S803P

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: ENSMUST00000136915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137892
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b A G 12: 105,614,581 (GRCm39) Y1117H possibly damaging Het
B020004C17Rik A G 14: 57,253,480 (GRCm39) R24G probably damaging Het
BC005624 A G 2: 30,868,946 (GRCm39) M76T probably benign Het
Blm G T 7: 80,159,167 (GRCm39) S323* probably null Het
Card19 C A 13: 49,356,607 (GRCm39) G181* probably null Het
Cilp2 T C 8: 70,335,515 (GRCm39) I494M probably damaging Het
Col5a2 A G 1: 45,442,579 (GRCm39) probably null Het
Col6a4 T C 9: 105,934,617 (GRCm39) D1431G probably benign Het
Cped1 G A 6: 22,138,701 (GRCm39) C560Y probably damaging Het
Cyfip1 T C 7: 55,576,096 (GRCm39) S1091P probably damaging Het
Ddx24 A G 12: 103,384,461 (GRCm39) I466T probably damaging Het
Dlg2 T A 7: 91,459,684 (GRCm39) probably benign Het
Esf1 C A 2: 140,006,377 (GRCm39) D257Y possibly damaging Het
Fgfr2 A G 7: 129,769,485 (GRCm39) F634S probably damaging Het
Flywch2 A G 17: 23,996,081 (GRCm39) probably benign Het
Gbp10 A T 5: 105,383,906 (GRCm39) I32N possibly damaging Het
Gli3 A G 13: 15,900,957 (GRCm39) D1448G possibly damaging Het
Gm10335 T C 10: 14,399,147 (GRCm39) probably benign Het
Golga5 A T 12: 102,438,418 (GRCm39) E44D probably benign Het
H2-M10.1 C T 17: 36,634,901 (GRCm39) probably benign Het
Ino80b A T 6: 83,101,143 (GRCm39) D141E probably damaging Het
Itpr3 A G 17: 27,338,997 (GRCm39) I2593V probably benign Het
Krt73 C T 15: 101,704,204 (GRCm39) probably benign Het
Loxl4 G T 19: 42,596,778 (GRCm39) L78I probably benign Het
Mbd5 A T 2: 49,164,779 (GRCm39) N360I probably damaging Het
Nfat5 A T 8: 108,088,450 (GRCm39) M495L probably benign Het
Nrxn3 A T 12: 88,762,565 (GRCm39) E204V possibly damaging Het
Or8k21 G T 2: 86,145,137 (GRCm39) F164L possibly damaging Het
Paqr4 A T 17: 23,958,886 (GRCm39) C38* probably null Het
Pcdhb13 T A 18: 37,577,282 (GRCm39) N553K probably damaging Het
Pcdhb9 T A 18: 37,534,810 (GRCm39) M268K probably benign Het
Pdap1 A T 5: 145,071,869 (GRCm39) probably benign Het
Phf2 A T 13: 48,975,118 (GRCm39) Y281N unknown Het
Phka2 T A X: 159,347,209 (GRCm39) I664N possibly damaging Het
Plekha7 A T 7: 115,739,936 (GRCm39) D762E possibly damaging Het
Plekhg4 T A 8: 106,105,884 (GRCm39) probably benign Het
Ppfia2 A T 10: 106,740,706 (GRCm39) Q1006L probably null Het
Pramel12 C A 4: 143,144,421 (GRCm39) Q256K probably benign Het
Prmt5 G A 14: 54,748,477 (GRCm39) Q197* probably null Het
Prodh A T 16: 17,897,049 (GRCm39) probably null Het
Ptgr3 T A 18: 84,113,390 (GRCm39) Y355* probably null Het
Rnft2 A G 5: 118,380,587 (GRCm39) probably benign Het
Rp1l1 G T 14: 64,266,985 (GRCm39) S857I probably damaging Het
Samd9l A G 6: 3,372,992 (GRCm39) F1423S probably damaging Het
Scn3a A G 2: 65,291,854 (GRCm39) Y1631H probably damaging Het
Slc22a5 A T 11: 53,765,899 (GRCm39) I229K probably damaging Het
Slco1a7 T C 6: 141,684,615 (GRCm39) D280G probably benign Het
Snd1 T A 6: 28,526,220 (GRCm39) probably benign Het
Srrm1 G T 4: 135,074,518 (GRCm39) probably null Het
Syne2 T C 12: 76,098,874 (GRCm39) V5252A probably damaging Het
Tek A G 4: 94,627,882 (GRCm39) D2G probably benign Het
Uggt2 A G 14: 119,326,605 (GRCm39) I202T possibly damaging Het
Umodl1 A T 17: 31,206,888 (GRCm39) I760F probably benign Het
Vgll1 A G X: 56,144,569 (GRCm39) probably benign Het
Zfp236 A G 18: 82,676,276 (GRCm39) V347A probably benign Het
Zswim9 T C 7: 12,994,608 (GRCm39) E516G probably damaging Het
Other mutations in Uba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Uba1 APN X 20,537,604 (GRCm39) missense possibly damaging 0.94
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 2014-05-07