Incidental Mutation 'R2124:Uxs1'
ID 229626
Institutional Source Beutler Lab
Gene Symbol Uxs1
Ensembl Gene ENSMUSG00000057363
Gene Name UDP-glucuronate decarboxylase 1
Synonyms 1600025I13Rik
MMRRC Submission 040127-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2124 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 43786126-43866960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43814006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 77 (L77P)
Ref Sequence ENSEMBL: ENSMUSP00000144114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076997] [ENSMUST00000126008] [ENSMUST00000139451] [ENSMUST00000153317]
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 probably damaging
Transcript: ENSMUST00000126008
AA Change: L198P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: L198P

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: L203P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118468
Gene: ENSMUSG00000057363
AA Change: L203P

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: L77P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144114
Gene: ENSMUSG00000057363
AA Change: L77P

DomainStartEndE-ValueType
Pfam:Epimerase 14 110 1.2e-13 PFAM
Pfam:GDP_Man_Dehyd 22 110 4.5e-18 PFAM
Meta Mutation Damage Score 0.9734 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adgrg6 T C 10: 14,342,930 (GRCm39) D339G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap3 A C 18: 38,106,403 (GRCm39) L1480R probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Aspg G A 12: 112,087,608 (GRCm39) V8I probably benign Het
Aven T A 2: 112,455,541 (GRCm39) W26R probably damaging Het
Car4 T A 11: 84,854,911 (GRCm39) probably benign Het
Cd163 C T 6: 124,295,815 (GRCm39) R720C probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cdh3 A T 8: 107,279,520 (GRCm39) H712L probably damaging Het
Cdr2 T C 7: 120,581,250 (GRCm39) E9G probably damaging Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Chrnb2 T C 3: 89,676,648 (GRCm39) probably benign Het
Col4a2 C A 8: 11,466,070 (GRCm39) P443Q probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Ddias T C 7: 92,507,464 (GRCm39) Q817R probably benign Het
Ddx6 C T 9: 44,535,816 (GRCm39) Q182* probably null Het
Dhrs7 A G 12: 72,699,951 (GRCm39) I227T probably damaging Het
Dhx8 A T 11: 101,653,071 (GRCm39) M970L probably damaging Het
Dnah7a A T 1: 53,536,101 (GRCm39) D2647E possibly damaging Het
Dstyk G A 1: 132,380,857 (GRCm39) G451R possibly damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Efl1 C T 7: 82,342,121 (GRCm39) R510C probably damaging Het
Eif4g3 A G 4: 137,912,053 (GRCm39) E1409G probably damaging Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fcgbp T C 7: 27,791,444 (GRCm39) Y902H probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gbp9 T A 5: 105,242,409 (GRCm39) D110V probably damaging Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gm10542 T A 18: 44,334,355 (GRCm39) W9R probably null Het
Gpaa1 A G 15: 76,217,552 (GRCm39) Y330C probably damaging Het
Hectd4 T C 5: 121,456,702 (GRCm39) L689P probably damaging Het
Hoxd3 C A 2: 74,574,578 (GRCm39) P75T possibly damaging Het
Ikbkb A G 8: 23,156,036 (GRCm39) L570P probably damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Kidins220 G A 12: 25,091,302 (GRCm39) probably null Het
Kif1b T C 4: 149,306,753 (GRCm39) D869G probably benign Het
Loxl2 T C 14: 69,929,859 (GRCm39) Y746H probably benign Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Prkdc T C 16: 15,537,297 (GRCm39) V1716A probably benign Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Rims1 T A 1: 22,474,732 (GRCm39) R200* probably null Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Sall3 C T 18: 81,015,012 (GRCm39) G972D probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sdk1 C A 5: 142,170,943 (GRCm39) D1935E possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Syt16 T A 12: 74,285,009 (GRCm39) S401T probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tbcd A G 11: 121,494,146 (GRCm39) Y983C probably damaging Het
Tenm3 A G 8: 48,870,041 (GRCm39) probably null Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Top2a T C 11: 98,895,054 (GRCm39) I849V probably benign Het
Ttn A G 2: 76,624,792 (GRCm39) V13516A probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vmn2r84 A C 10: 130,227,100 (GRCm39) M246R probably damaging Het
Vps13b T A 15: 35,646,226 (GRCm39) N1443K probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp616 A G 11: 73,973,869 (GRCm39) probably null Het
Zmym1 T C 4: 126,943,363 (GRCm39) T244A probably benign Het
Other mutations in Uxs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Uxs1 APN 1 43,796,173 (GRCm39) missense probably benign 0.03
IGL02210:Uxs1 APN 1 43,789,446 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- TGACTCAGGCCTCAGAGTAG -3'
(R):5'- CGTCGCAAGGGTTCATTTAC -3'

Sequencing Primer
(F):5'- GAATCCTGAACTCTGGTTC -3'
(R):5'- CGCAAGGGTTCATTTACAGTTTTC -3'
Posted On 2014-09-17