Incidental Mutation 'IGL02537:Uba1'
ID 297568
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 # IGL02537
Quality Score
Status
Chromosome X
Chromosomal Location 20524565-20549418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20544902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 693 (R693H)
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: R693H

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001989
Gene: ENSMUSG00000001924
AA Change: R693H

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: R693H

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086626
Gene: ENSMUSG00000001924
AA Change: R693H

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Alx3 T A 3: 107,512,175 (GRCm39) M271K possibly damaging Het
Ank2 T C 3: 126,749,565 (GRCm39) E488G probably damaging Het
Arsk T A 13: 76,223,025 (GRCm39) R191* probably null Het
B230217C12Rik T C 11: 97,733,011 (GRCm39) S111P possibly damaging Het
Bckdhb A G 9: 83,871,194 (GRCm39) I158V probably benign Het
Bub1 G A 2: 127,643,267 (GRCm39) Q1026* probably null Het
C8a A G 4: 104,703,148 (GRCm39) M303T probably damaging Het
Cftr A G 6: 18,274,596 (GRCm39) T905A probably benign Het
Ciao3 C T 17: 25,997,916 (GRCm39) probably benign Het
Col14a1 A T 15: 55,208,310 (GRCm39) K132* probably null Het
Depdc5 T A 5: 33,125,131 (GRCm39) L531Q probably damaging Het
Dzip1 G A 14: 119,146,988 (GRCm39) probably benign Het
F5 C A 1: 164,020,686 (GRCm39) L1054I probably benign Het
Gm4353 A T 7: 115,682,987 (GRCm39) I198N probably damaging Het
Il1a T A 2: 129,150,996 (GRCm39) E9V probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kif15 A G 9: 122,822,914 (GRCm39) T432A probably benign Het
Kndc1 T C 7: 139,490,326 (GRCm39) V276A probably benign Het
Or2aj5 A T 16: 19,424,549 (GRCm39) Y290N probably damaging Het
Or4a74 A C 2: 89,439,739 (GRCm39) S236A possibly damaging Het
Or6n2 A T 1: 173,897,020 (GRCm39) D52V possibly damaging Het
Palld T C 8: 62,137,968 (GRCm39) S596G probably benign Het
Pdc A T 1: 150,208,760 (GRCm39) D81V possibly damaging Het
Plcd4 A G 1: 74,595,209 (GRCm39) K361R possibly damaging Het
Plekhm1 T A 11: 103,288,018 (GRCm39) D43V probably damaging Het
Prpf31 G T 7: 3,641,750 (GRCm39) G356C probably damaging Het
Rbpj T A 5: 53,799,485 (GRCm39) I100K probably damaging Het
Rufy3 A G 5: 88,788,521 (GRCm39) probably benign Het
Slc40a1 C T 1: 45,950,553 (GRCm39) V300I probably benign Het
Slc6a12 A T 6: 121,337,473 (GRCm39) I386F probably benign Het
Strip1 C T 3: 107,524,210 (GRCm39) R569H possibly damaging Het
Tep1 A T 14: 51,073,570 (GRCm39) D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 (GRCm39) S14P possibly damaging Het
Trav12-1 C A 14: 53,775,980 (GRCm39) C44* probably null Het
Ugt2b38 T C 5: 87,569,590 (GRCm39) T246A possibly damaging Het
Usp24 A G 4: 106,249,564 (GRCm39) Y1427C probably damaging Het
Vmn2r78 A T 7: 86,603,496 (GRCm39) Y558F probably damaging Het
Wdr54 A G 6: 83,130,372 (GRCm39) W221R possibly damaging Het
Xpo4 T C 14: 57,831,290 (GRCm39) T773A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp518a T A 19: 40,903,874 (GRCm39) S1268T probably benign Het
Znfx1 T C 2: 166,898,087 (GRCm39) D279G probably benign Het
Other mutations in Uba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Uba1 APN X 20,537,604 (GRCm39) missense possibly damaging 0.94
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
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 2015-04-16