Incidental Mutation 'R2113:Uxs1'
ID232720
Institutional Source Beutler Lab
Gene Symbol Uxs1
Ensembl Gene ENSMUSG00000057363
Gene NameUDP-glucuronate decarboxylase 1
Synonyms1600025I13Rik
MMRRC Submission 040117-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2113 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location43746966-43827800 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43771773 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 97 (Y97H)
Ref Sequence ENSEMBL: ENSMUSP00000144114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076997] [ENSMUST00000126008] [ENSMUST00000139451] [ENSMUST00000153317]
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 probably damaging
Transcript: ENSMUST00000126008
AA Change: Y218H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: Y218H

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: ENSMUST00000134860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136179
Predicted Effect probably damaging
Transcript: ENSMUST00000139451
AA Change: Y223H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118468
Gene: ENSMUSG00000057363
AA Change: Y223H

DomainStartEndE-ValueType
Pfam:UXS1_N 1 83 4.4e-38 PFAM
Pfam:RmlD_sub_bind 94 254 2.6e-9 PFAM
Pfam:Polysacc_synt_2 96 211 1.2e-6 PFAM
Pfam:Epimerase 96 254 2.9e-27 PFAM
Pfam:3Beta_HSD 97 251 2.5e-9 PFAM
Pfam:NAD_binding_4 125 254 1.1e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153317
AA Change: Y97H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144114
Gene: ENSMUSG00000057363
AA Change: Y97H

DomainStartEndE-ValueType
Pfam:Epimerase 14 110 1.2e-13 PFAM
Pfam:GDP_Man_Dehyd 22 110 4.5e-18 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 127 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,268,772 V549A probably benign Het
Abcd4 C A 12: 84,609,016 G295* probably null Het
Acad9 T C 3: 36,074,376 Y129H probably damaging Het
Actn4 C T 7: 28,898,124 G608D probably benign Het
Adcyap1r1 T A 6: 55,481,115 N300K probably damaging Het
Adh5 A G 3: 138,451,484 I269V probably benign Het
Afap1l2 G A 19: 56,913,389 A842V possibly damaging Het
AI429214 A T 8: 36,994,000 K101* probably null Het
Alg10b T A 15: 90,225,657 W58R probably damaging Het
Alpk2 C T 18: 65,305,683 E1347K probably benign Het
Amotl2 G T 9: 102,724,723 E389* probably null Het
Ap5m1 G A 14: 49,086,248 R465Q probably damaging Het
Apoa1 A C 9: 46,229,214 S48R probably damaging Het
Asb1 T C 1: 91,544,228 L34P probably damaging Het
Atg14 C T 14: 47,551,324 A191T probably damaging Het
Atp13a4 C T 16: 29,441,284 V235I possibly damaging Het
Atrnl1 C T 19: 57,755,616 Q1217* probably null Het
Bsn A T 9: 108,114,886 H1222Q probably benign Het
Catsper4 A T 4: 134,218,241 V169E probably damaging Het
Cbx4 C T 11: 119,081,892 G219E probably damaging Het
Ccdc136 C T 6: 29,413,032 T406I possibly damaging Het
Celsr3 A T 9: 108,838,470 Y2117F probably damaging Het
Cenpf T A 1: 189,679,102 Q295L probably damaging Het
Ces1b A G 8: 93,068,155 V272A probably benign Het
Cgn A T 3: 94,779,806 V62D probably damaging Het
Ckap4 T G 10: 84,533,523 Q115P possibly damaging Het
Clec10a T C 11: 70,169,824 probably null Het
Clmn A T 12: 104,780,808 S827T probably benign Het
Cntn4 T C 6: 106,489,697 S187P probably damaging Het
Cntnap5a A T 1: 116,188,365 I526F probably damaging Het
Cntnap5b A G 1: 100,274,415 Q329R probably benign Het
Col1a1 T A 11: 94,948,362 S979T unknown Het
Crat T A 2: 30,402,642 Y606F probably benign Het
Cyp2c29 G T 19: 39,330,264 C396F probably damaging Het
Cyp2d34 G T 15: 82,617,616 P231Q probably damaging Het
Ddi2 A T 4: 141,703,280 probably null Het
Dicer1 A T 12: 104,713,214 H501Q probably damaging Het
Dnah12 A G 14: 26,766,141 I1001V probably damaging Het
Dnase2a T A 8: 84,910,871 C301S probably damaging Het
Dock10 T A 1: 80,606,563 D142V probably damaging Het
Dpp8 G A 9: 65,063,868 C590Y probably benign Het
Dst T A 1: 34,275,236 M6707K probably damaging Het
Duox1 T C 2: 122,337,254 V1006A probably benign Het
Dync1h1 T C 12: 110,629,986 S1623P probably damaging Het
Ehmt1 A T 2: 24,804,003 D1011E probably damaging Het
Epc2 T A 2: 49,532,223 D376E probably benign Het
Eps8 C A 6: 137,537,635 probably null Het
F11 T C 8: 45,246,832 T406A probably benign Het
Fat3 T G 9: 15,999,786 D1640A probably damaging Het
Fbxo15 A T 18: 84,959,105 R47S probably benign Het
Fbxo28 A T 1: 182,329,925 V109E probably damaging Het
Fn1 A T 1: 71,626,164 S931R probably damaging Het
Fndc3b T C 3: 27,643,036 D9G probably damaging Het
Frem2 G A 3: 53,652,922 T1388I probably damaging Het
Fstl3 C A 10: 79,781,178 T185N probably damaging Het
Glo1 A T 17: 30,604,040 Y49* probably null Het
Gtsf2 T C 15: 103,439,673 M137V probably benign Het
Gzmk C T 13: 113,173,955 G110S probably benign Het
Hdac9 G T 12: 34,389,332 S428R probably damaging Het
Hnrnpul1 G A 7: 25,733,269 T456I possibly damaging Het
Ino80 T A 2: 119,454,084 H172L probably damaging Het
Itgb8 A C 12: 119,190,612 L230R probably damaging Het
Klf9 C T 19: 23,164,688 R171W probably damaging Het
Kmt2b G T 7: 30,583,387 P1050Q probably damaging Het
Krt15 A T 11: 100,135,658 F67L unknown Het
Maml3 T A 3: 51,690,656 Y223F probably damaging Het
Mcm9 C T 10: 53,615,847 probably null Het
Mettl3 A G 14: 52,294,984 *104Q probably null Het
Msrb3 T A 10: 120,852,080 D30V possibly damaging Het
Mycbp2 T C 14: 103,220,076 T1562A probably damaging Het
Nat14 T C 7: 4,924,039 V70A possibly damaging Het
Nbeal2 T C 9: 110,625,406 T2685A probably damaging Het
Nek1 A G 8: 61,016,293 D128G probably damaging Het
Nfam1 T A 15: 83,015,001 K155* probably null Het
Noc4l A T 5: 110,650,559 M255K possibly damaging Het
Nolc1 CAG CAGGAG 19: 46,081,359 probably benign Het
Nolc1 GCA GCAACA 19: 46,081,361 probably benign Het
Nprl2 T C 9: 107,545,312 S334P probably benign Het
Nsrp1 A G 11: 77,046,570 S267P probably benign Het
Ntn4 A T 10: 93,644,839 M142L probably damaging Het
Nup188 T A 2: 30,304,101 C139* probably null Het
Nup210l A T 3: 90,190,974 N1411I possibly damaging Het
Olfr1510 A G 14: 52,410,296 L192P probably damaging Het
Olfr994 T G 2: 85,430,086 T248P probably damaging Het
Pard3 A T 8: 127,388,537 T579S probably damaging Het
Pcnx3 G T 19: 5,671,556 D1071E possibly damaging Het
Pi4k2a T A 19: 42,115,071 I340N possibly damaging Het
Pkdrej T A 15: 85,818,984 D917V probably damaging Het
Plekhg4 T A 8: 105,379,434 F821Y probably damaging Het
Ptgfrn C T 3: 101,077,309 R189H probably benign Het
Ptpn18 T A 1: 34,471,661 S235R probably damaging Het
Rabep2 A G 7: 126,445,288 probably null Het
Rbp3 T G 14: 33,956,057 I654S probably benign Het
Rimbp3 T C 16: 17,209,675 L321P probably benign Het
Rims2 T A 15: 39,511,326 M1028K probably benign Het
Ruvbl1 T A 6: 88,483,021 V221D probably damaging Het
Ruvbl2 A T 7: 45,424,103 probably null Het
Scn7a C T 2: 66,675,968 D1526N probably damaging Het
Scnn1a T C 6: 125,337,811 F218S possibly damaging Het
Sh3tc2 T A 18: 62,013,105 M1185K probably damaging Het
Slain1 C A 14: 103,650,846 D67E possibly damaging Het
Snx33 T C 9: 56,926,440 D115G probably benign Het
Sowaha G A 11: 53,478,962 R316C probably damaging Het
Spata17 A T 1: 187,097,911 F309I possibly damaging Het
Spata48 G A 11: 11,490,293 probably null Het
Ssrp1 G T 2: 85,043,006 probably null Het
St6gal1 C G 16: 23,328,417 T225S probably damaging Het
Sulf1 C G 1: 12,848,174 F38L probably damaging Het
Tbc1d7 G A 13: 43,153,086 T138M probably damaging Het
Tdpoz4 T A 3: 93,797,044 M216K probably damaging Het
Tmem200a A G 10: 25,993,322 S350P probably damaging Het
Tnpo3 A T 6: 29,551,872 D903E probably benign Het
Trpc4ap A T 2: 155,657,936 I222N probably damaging Het
Trrap T A 5: 144,844,211 Y3261N probably damaging Het
Ttn A G 2: 76,712,610 V33344A possibly damaging Het
Uchl4 A T 9: 64,235,536 T100S probably damaging Het
Vmn1r192 A T 13: 22,187,630 V140D possibly damaging Het
Vmn2r114 ATTT ATT 17: 23,290,932 probably null Het
Vmn2r7 A G 3: 64,691,604 S511P possibly damaging Het
Vmn2r88 T C 14: 51,418,194 L621P probably damaging Het
Vps45 A T 3: 96,047,053 M174K probably benign Het
Wdr72 A T 9: 74,145,172 M162L probably benign Het
Wdr81 T A 11: 75,453,635 M269L probably benign Het
Zfp53 A G 17: 21,508,451 T249A probably benign Het
Zfp758 T C 17: 22,361,645 S22P probably benign Het
Zfp780b T C 7: 27,963,873 D419G possibly damaging Het
Zfp934 A T 13: 62,518,693 Y45N probably damaging Het
Other mutations in Uxs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Uxs1 APN 1 43757013 missense probably benign 0.03
IGL02210:Uxs1 APN 1 43750286 missense possibly damaging 0.95
IGL03203:Uxs1 APN 1 43807344 intron probably benign
R0505:Uxs1 UTSW 1 43764886 splice site probably null
R1464:Uxs1 UTSW 1 43764916 nonsense probably null
R1464:Uxs1 UTSW 1 43764916 nonsense probably null
R1720:Uxs1 UTSW 1 43764921 missense probably damaging 1.00
R2079:Uxs1 UTSW 1 43764973 missense probably damaging 1.00
R2124:Uxs1 UTSW 1 43774846 missense probably damaging 1.00
R2145:Uxs1 UTSW 1 43827623 missense probably damaging 1.00
R4025:Uxs1 UTSW 1 43802616 intron probably benign
R4210:Uxs1 UTSW 1 43750238 missense possibly damaging 0.95
R4722:Uxs1 UTSW 1 43774846 missense probably damaging 1.00
R5321:Uxs1 UTSW 1 43805645 missense probably damaging 0.96
R5527:Uxs1 UTSW 1 43780080 missense probably damaging 1.00
R5854:Uxs1 UTSW 1 43780073 missense probably damaging 1.00
R6353:Uxs1 UTSW 1 43797250 missense probably damaging 0.99
R7205:Uxs1 UTSW 1 43816958 intron probably benign
R7235:Uxs1 UTSW 1 43764927 missense probably damaging 0.96
R7474:Uxs1 UTSW 1 43757024 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCACTAGGTCTTCCCAACAG -3'
(R):5'- TCATGAAGGTGAATTATGACCATCG -3'

Sequencing Primer
(F):5'- TAGGTCTTCCCAACAGCCACTG -3'
(R):5'- CCATCGGGGTTCAGACCTC -3'
Posted On2014-09-18