Incidental Mutation 'IGL02210:Uxs1'
ID 284684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uxs1
Ensembl Gene ENSMUSG00000057363
Gene Name UDP-glucuronate decarboxylase 1
Synonyms 1600025I13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02210
Quality Score
Status
Chromosome 1
Chromosomal Location 43786126-43866960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43789446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 403 (Y403C)
Ref Sequence ENSEMBL: ENSMUSP00000119939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076997] [ENSMUST00000126008]
AlphaFold Q91XL3
Predicted Effect probably benign
Transcript: ENSMUST00000076997
SMART Domains Protein: ENSMUSP00000076259
Gene: ENSMUSG00000057363

DomainStartEndE-ValueType
Pfam:UXS1_N 1 78 5.2e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000126008
AA Change: Y403C

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: Y403C

DomainStartEndE-ValueType
Pfam:UXS1_N 4 78 2.3e-40 PFAM
Pfam:RmlD_sub_bind 89 370 1.1e-11 PFAM
Pfam:Polysacc_synt_2 91 207 2.7e-6 PFAM
Pfam:Epimerase 91 324 9.8e-52 PFAM
Pfam:3Beta_HSD 92 305 1.8e-9 PFAM
Pfam:GDP_Man_Dehyd 92 387 1.3e-58 PFAM
Pfam:NAD_binding_4 129 297 4.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187764
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele die prenatally. Heterozygous mice exhibit an increased mean serum IgG2a response to ovalbumin challenge when compared with that of controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,633,097 (GRCm39) F215S probably damaging Het
Acvr2a A T 2: 48,788,538 (GRCm39) H422L probably damaging Het
Adcy6 T C 15: 98,492,852 (GRCm39) Y908C possibly damaging Het
Alyref A C 11: 120,488,499 (GRCm39) S110A possibly damaging Het
Ankrd1 T C 19: 36,095,714 (GRCm39) D86G probably damaging Het
Anpep T A 7: 79,476,652 (GRCm39) Y29F probably benign Het
Appl1 T C 14: 26,647,909 (GRCm39) probably benign Het
Arrdc5 T C 17: 56,607,026 (GRCm39) D73G probably damaging Het
Atp12a T A 14: 56,609,201 (GRCm39) Y142* probably null Het
Clec4a3 T A 6: 122,931,067 (GRCm39) I52N probably damaging Het
Cmya5 G A 13: 93,229,242 (GRCm39) P1949S probably benign Het
Crybb2 T A 5: 113,206,253 (GRCm39) Q194L probably damaging Het
Dmxl2 A C 9: 54,311,333 (GRCm39) L1796R probably damaging Het
Ecm1 A G 3: 95,643,289 (GRCm39) F337S probably damaging Het
F5 T C 1: 164,017,710 (GRCm39) S596P probably benign Het
Fat4 A G 3: 38,946,002 (GRCm39) T1632A probably benign Het
Gm5070 T G 3: 95,317,936 (GRCm39) noncoding transcript Het
Hps5 T C 7: 46,435,994 (GRCm39) Y184C probably benign Het
Letmd1 T C 15: 100,367,128 (GRCm39) probably null Het
Lipo5 A T 19: 33,445,277 (GRCm39) N97K unknown Het
Mis18bp1 A T 12: 65,183,605 (GRCm39) Y922* probably null Het
Mob3c C A 4: 115,690,952 (GRCm39) H181N probably damaging Het
Muc4 A T 16: 32,574,054 (GRCm39) T711S probably benign Het
Nav3 T C 10: 109,602,851 (GRCm39) T1233A probably benign Het
Nherf4 T G 9: 44,159,614 (GRCm39) T461P probably benign Het
Or12e8 T A 2: 87,188,347 (GRCm39) D186E probably damaging Het
Or12k8 G T 2: 36,975,631 (GRCm39) T43N possibly damaging Het
Pcnt T C 10: 76,225,053 (GRCm39) E1817G possibly damaging Het
Pgap4 A G 4: 49,586,686 (GRCm39) Y161H probably benign Het
Phc3 A G 3: 30,990,858 (GRCm39) V420A probably damaging Het
Plekhn1 A T 4: 156,308,106 (GRCm39) C316S probably damaging Het
Ppp1cb T A 5: 32,640,818 (GRCm39) probably benign Het
Slc29a4 T C 5: 142,704,534 (GRCm39) Y359H probably damaging Het
Sspo T C 6: 48,477,426 (GRCm39) I4982T probably damaging Het
Sstr4 T A 2: 148,238,229 (GRCm39) L280Q probably damaging Het
Stap1 G A 5: 86,225,920 (GRCm39) probably null Het
Szt2 A G 4: 118,247,020 (GRCm39) V865A possibly damaging Het
Tnr T A 1: 159,679,671 (GRCm39) V215D probably benign Het
Trpm1 T C 7: 63,860,613 (GRCm39) L288P probably damaging Het
Ttll5 T A 12: 85,959,319 (GRCm39) probably benign Het
Usp8 T C 2: 126,559,976 (GRCm39) probably benign Het
Wnk2 T C 13: 49,244,345 (GRCm39) E497G probably damaging Het
Xdh T C 17: 74,250,890 (GRCm39) K21E probably benign Het
Other mutations in Uxs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Uxs1 APN 1 43,796,173 (GRCm39) missense probably benign 0.03
IGL03203:Uxs1 APN 1 43,846,504 (GRCm39) intron probably benign
excess UTSW 1 43,804,087 (GRCm39) missense probably damaging 0.96
R0505:Uxs1 UTSW 1 43,804,046 (GRCm39) splice site probably null
R1464:Uxs1 UTSW 1 43,804,076 (GRCm39) nonsense probably null
R1464:Uxs1 UTSW 1 43,804,076 (GRCm39) nonsense probably null
R1720:Uxs1 UTSW 1 43,804,081 (GRCm39) missense probably damaging 1.00
R2079:Uxs1 UTSW 1 43,804,133 (GRCm39) missense probably damaging 1.00
R2113:Uxs1 UTSW 1 43,810,933 (GRCm39) missense probably damaging 1.00
R2124:Uxs1 UTSW 1 43,814,006 (GRCm39) missense probably damaging 1.00
R2145:Uxs1 UTSW 1 43,866,783 (GRCm39) missense probably damaging 1.00
R4025:Uxs1 UTSW 1 43,841,776 (GRCm39) intron probably benign
R4210:Uxs1 UTSW 1 43,789,398 (GRCm39) missense possibly damaging 0.95
R4722:Uxs1 UTSW 1 43,814,006 (GRCm39) missense probably damaging 1.00
R5321:Uxs1 UTSW 1 43,844,805 (GRCm39) missense probably damaging 0.96
R5527:Uxs1 UTSW 1 43,819,240 (GRCm39) missense probably damaging 1.00
R5854:Uxs1 UTSW 1 43,819,233 (GRCm39) missense probably damaging 1.00
R6353:Uxs1 UTSW 1 43,836,410 (GRCm39) missense probably damaging 0.99
R7205:Uxs1 UTSW 1 43,856,118 (GRCm39) intron probably benign
R7235:Uxs1 UTSW 1 43,804,087 (GRCm39) missense probably damaging 0.96
R7474:Uxs1 UTSW 1 43,796,184 (GRCm39) missense possibly damaging 0.95
R8190:Uxs1 UTSW 1 43,810,911 (GRCm39) missense possibly damaging 0.92
R9248:Uxs1 UTSW 1 43,804,084 (GRCm39) missense probably damaging 1.00
R9549:Uxs1 UTSW 1 43,810,892 (GRCm39) nonsense probably null
Posted On 2015-04-16