Incidental Mutation 'IGL02537:Uba1'
ID297568
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 #IGL02537
Quality Score
Status
ChromosomeX
Chromosomal Location20658326-20683179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 20678663 bp
ZygosityHeterozygous
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]
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: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Alx3 T A 3: 107,604,859 M271K possibly damaging Het
Ank2 T C 3: 126,955,916 E488G probably damaging Het
Arsk T A 13: 76,074,906 R191* probably null Het
B230217C12Rik T C 11: 97,842,185 S111P possibly damaging Het
Bckdhb A G 9: 83,989,141 I158V probably benign Het
Bub1 G A 2: 127,801,347 Q1026* probably null Het
C8a A G 4: 104,845,951 M303T probably damaging Het
Cftr A G 6: 18,274,597 T905A probably benign Het
Col14a1 A T 15: 55,344,914 K132* probably null Het
Depdc5 T A 5: 32,967,787 L531Q probably damaging Het
Dzip1 G A 14: 118,909,576 probably benign Het
F5 C A 1: 164,193,117 L1054I probably benign Het
Gm4353 A T 7: 116,083,752 I198N probably damaging Het
Il1a T A 2: 129,309,076 E9V probably damaging Het
Kif15 A G 9: 122,993,849 T432A probably benign Het
Kndc1 T C 7: 139,910,410 V276A probably benign Het
Mrvi1 A T 7: 110,871,473 Y678* probably null Het
Narfl C T 17: 25,778,942 probably benign Het
Olfr1247 A C 2: 89,609,395 S236A possibly damaging Het
Olfr170 A T 16: 19,605,799 Y290N probably damaging Het
Olfr430 A T 1: 174,069,454 D52V possibly damaging Het
Palld T C 8: 61,684,934 S596G probably benign Het
Pdc A T 1: 150,333,009 D81V possibly damaging Het
Plcd4 A G 1: 74,556,050 K361R possibly damaging Het
Plekhm1 T A 11: 103,397,192 D43V probably damaging Het
Prpf31 G T 7: 3,638,751 G356C probably damaging Het
Rbpj T A 5: 53,642,143 I100K probably damaging Het
Rufy3 A G 5: 88,640,662 probably benign Het
Slc40a1 C T 1: 45,911,393 V300I probably benign Het
Slc6a12 A T 6: 121,360,514 I386F probably benign Het
Strip1 C T 3: 107,616,894 R569H possibly damaging Het
Tep1 A T 14: 50,836,113 D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 S14P possibly damaging Het
Trav12-1 C A 14: 53,538,523 C44* probably null Het
Ugt2b38 T C 5: 87,421,731 T246A possibly damaging Het
Usp24 A G 4: 106,392,367 Y1427C probably damaging Het
Vmn2r78 A T 7: 86,954,288 Y558F probably damaging Het
Wdr54 A G 6: 83,153,391 W221R possibly damaging Het
Xpo4 T C 14: 57,593,833 T773A probably benign Het
Zfp518a T A 19: 40,915,430 S1268T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Znfx1 T C 2: 167,056,167 D279G probably benign Het
Other mutations in Uba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Uba1 APN X 20671365 missense possibly damaging 0.94
IGL02063:Uba1 APN X 20679725 missense probably damaging 1.00
IGL02513:Uba1 APN X 20675646 missense probably benign 0.03
IGL02974:Uba1 APN X 20678720 missense probably benign 0.10
IGL03271:Uba1 APN X 20675717 missense probably damaging 1.00
Z1177:Uba1 UTSW X 20681419 missense probably damaging 1.00
Posted On2015-04-16