Incidental Mutation 'IGL03057:Ugt2b1'
ID 409285
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b1
Ensembl Gene ENSMUSG00000035836
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B1
Synonyms 1300012D20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL03057
Quality Score
Status
Chromosome 5
Chromosomal Location 87064498-87074362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87074200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 53 (V53A)
Ref Sequence ENSEMBL: ENSMUSP00000031183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031183]
AlphaFold Q8R084
Predicted Effect possibly damaging
Transcript: ENSMUST00000031183
AA Change: V53A

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: V53A

DomainStartEndE-ValueType
Pfam:UDPGT 24 527 4.7e-260 PFAM
Pfam:Glyco_tran_28_C 343 454 1.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102029
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 a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,488,754 (GRCm39) A1295V possibly damaging Het
Adgre4 T C 17: 56,106,602 (GRCm39) probably benign Het
Atp8b2 A T 3: 89,851,493 (GRCm39) Y901N probably damaging Het
Bud31 A G 5: 145,083,378 (GRCm39) T74A probably benign Het
C4b C A 17: 34,956,738 (GRCm39) probably benign Het
Ccdc92 G A 5: 124,912,753 (GRCm39) Q259* probably null Het
Ccn4 T C 15: 66,763,489 (GRCm39) probably benign Het
Chfr C A 5: 110,291,475 (GRCm39) Q98K probably benign Het
Ciita T A 16: 10,338,823 (GRCm39) probably benign Het
Cnbd2 A T 2: 156,209,592 (GRCm39) I512F possibly damaging Het
Cpa2 A G 6: 30,557,726 (GRCm39) Y346C probably damaging Het
Cpxm1 A G 2: 130,235,109 (GRCm39) L570P probably damaging Het
Cylc1 G A X: 110,166,370 (GRCm39) G217D unknown Het
Dennd2a T C 6: 39,485,182 (GRCm39) I366V probably damaging Het
Dis3 A T 14: 99,327,426 (GRCm39) M359K possibly damaging Het
Dock10 T C 1: 80,545,088 (GRCm39) N848S probably damaging Het
Dyrk3 C T 1: 131,056,815 (GRCm39) V453I probably benign Het
Ercc5 A G 1: 44,206,161 (GRCm39) E358G probably damaging Het
Fam167b C A 4: 129,471,960 (GRCm39) C70F possibly damaging Het
Flt1 G T 5: 147,618,734 (GRCm39) Y200* probably null Het
Garin4 A T 1: 190,895,141 (GRCm39) S501T probably benign Het
Ggh T C 4: 20,065,770 (GRCm39) V288A probably benign Het
Glb1l2 T C 9: 26,717,586 (GRCm39) probably benign Het
Gm28042 A G 2: 119,862,637 (GRCm39) Y302C probably damaging Het
Gsta2 A G 9: 78,241,192 (GRCm39) probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Irs4 A G X: 140,505,524 (GRCm39) S891P unknown Het
Kcmf1 G T 6: 72,820,010 (GRCm39) R330S probably benign Het
Kif26a G T 12: 112,142,208 (GRCm39) E821* probably null Het
L3mbtl1 A G 2: 162,809,303 (GRCm39) E670G probably damaging Het
Met A T 6: 17,558,765 (GRCm39) D1131V probably damaging Het
Neo1 T C 9: 58,785,342 (GRCm39) E1428G probably damaging Het
Odf2 A G 2: 29,813,657 (GRCm39) probably benign Het
Ogfod1 T A 8: 94,782,766 (GRCm39) L294H possibly damaging Het
Or8d1b G T 9: 38,887,514 (GRCm39) V181F probably benign Het
Pcdhb20 A T 18: 37,637,851 (GRCm39) I126L possibly damaging Het
Pcdhb9 A T 18: 37,534,330 (GRCm39) Q108L probably benign Het
Prdm10 G T 9: 31,260,481 (GRCm39) R645L probably damaging Het
Psmb11 T A 14: 54,863,236 (GRCm39) C151* probably null Het
Reep1 T A 6: 71,784,765 (GRCm39) probably benign Het
Reg3a G A 6: 78,358,939 (GRCm39) A46T possibly damaging Het
Rnf213 T A 11: 119,331,913 (GRCm39) I2374N probably damaging Het
Slc17a7 T C 7: 44,820,363 (GRCm39) Y273H probably damaging Het
Smg6 T A 11: 74,826,260 (GRCm39) Y238* probably null Het
Sorcs1 T A 19: 50,248,194 (GRCm39) K411* probably null Het
Spta1 G T 1: 174,008,624 (GRCm39) A243S probably benign Het
Tas2r135 A T 6: 42,378,061 (GRCm39) probably benign Het
Tbx18 T C 9: 87,612,882 (GRCm39) R6G probably damaging Het
Timp3 A G 10: 86,136,815 (GRCm39) D33G possibly damaging Het
Ttf1 A G 2: 28,961,357 (GRCm39) K582E probably damaging Het
Ubr5 C A 15: 38,041,150 (GRCm39) probably benign Het
Ush2a G T 1: 188,530,035 (GRCm39) G3275W probably damaging Het
Usp19 G A 9: 108,376,329 (GRCm39) V1023M probably benign Het
Usp26 T C X: 50,846,135 (GRCm39) I47V possibly damaging Het
Vapa A G 17: 65,901,902 (GRCm39) V76A probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vps13a T C 19: 16,646,058 (GRCm39) N1993S probably damaging Het
Wdr59 G A 8: 112,202,750 (GRCm39) R598C probably damaging Het
Other mutations in Ugt2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Ugt2b1 APN 5 87,073,817 (GRCm39) missense probably benign 0.05
IGL00556:Ugt2b1 APN 5 87,074,055 (GRCm39) missense probably benign 0.00
IGL02591:Ugt2b1 APN 5 87,065,563 (GRCm39) missense probably damaging 1.00
IGL02795:Ugt2b1 APN 5 87,065,560 (GRCm39) missense probably damaging 1.00
IGL02993:Ugt2b1 APN 5 87,069,850 (GRCm39) missense possibly damaging 0.86
IGL03084:Ugt2b1 APN 5 87,074,243 (GRCm39) missense probably benign 0.00
PIT4531001:Ugt2b1 UTSW 5 87,074,342 (GRCm39) missense probably benign 0.00
R0125:Ugt2b1 UTSW 5 87,073,961 (GRCm39) missense probably benign
R0480:Ugt2b1 UTSW 5 87,074,315 (GRCm39) missense probably benign 0.00
R0551:Ugt2b1 UTSW 5 87,073,943 (GRCm39) missense probably benign 0.01
R0601:Ugt2b1 UTSW 5 87,065,539 (GRCm39) missense possibly damaging 0.53
R0626:Ugt2b1 UTSW 5 87,073,720 (GRCm39) missense probably null 0.13
R1238:Ugt2b1 UTSW 5 87,073,988 (GRCm39) missense probably benign 0.00
R1623:Ugt2b1 UTSW 5 87,074,267 (GRCm39) missense probably benign 0.25
R1919:Ugt2b1 UTSW 5 87,073,859 (GRCm39) missense probably benign 0.00
R1930:Ugt2b1 UTSW 5 87,065,700 (GRCm39) missense probably damaging 1.00
R1931:Ugt2b1 UTSW 5 87,065,700 (GRCm39) missense probably damaging 1.00
R1955:Ugt2b1 UTSW 5 87,065,572 (GRCm39) missense probably damaging 1.00
R3973:Ugt2b1 UTSW 5 87,065,534 (GRCm39) missense probably benign 0.19
R3976:Ugt2b1 UTSW 5 87,065,534 (GRCm39) missense probably benign 0.19
R4115:Ugt2b1 UTSW 5 87,074,273 (GRCm39) missense probably damaging 0.99
R5018:Ugt2b1 UTSW 5 87,073,821 (GRCm39) nonsense probably null
R5043:Ugt2b1 UTSW 5 87,065,503 (GRCm39) missense possibly damaging 0.94
R5765:Ugt2b1 UTSW 5 87,067,265 (GRCm39) missense probably benign 0.32
R5959:Ugt2b1 UTSW 5 87,073,813 (GRCm39) missense probably benign 0.42
R5985:Ugt2b1 UTSW 5 87,067,527 (GRCm39) missense possibly damaging 0.56
R6791:Ugt2b1 UTSW 5 87,067,116 (GRCm39) missense probably damaging 1.00
R7380:Ugt2b1 UTSW 5 87,065,578 (GRCm39) missense not run
R7414:Ugt2b1 UTSW 5 87,073,693 (GRCm39) missense probably damaging 0.97
R8519:Ugt2b1 UTSW 5 87,074,326 (GRCm39) missense probably damaging 0.99
R9473:Ugt2b1 UTSW 5 87,065,539 (GRCm39) missense possibly damaging 0.53
R9540:Ugt2b1 UTSW 5 87,069,771 (GRCm39) missense possibly damaging 0.94
X0017:Ugt2b1 UTSW 5 87,074,188 (GRCm39) missense probably benign
X0027:Ugt2b1 UTSW 5 87,073,657 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02