Incidental Mutation 'IGL00493:Ugt2b1'
ID6416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b1
Ensembl Gene ENSMUSG00000035836
Gene NameUDP glucuronosyltransferase 2 family, polypeptide B1
Synonyms1300012D20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL00493
Quality Score
Status
Chromosome5
Chromosomal Location86916638-86926530 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86925958 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 181 (C181R)
Ref Sequence ENSEMBL: ENSMUSP00000031183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031183]
Predicted Effect probably benign
Transcript: ENSMUST00000031183
AA Change: C181R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: C181R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,696,599 probably benign Het
4930415O20Rik T C 15: 98,588,544 probably benign Het
Adarb2 A G 13: 8,701,725 T509A probably benign Het
Arhgap23 T C 11: 97,446,553 probably null Het
Astn1 A T 1: 158,600,319 I687F possibly damaging Het
Atg4d T C 9: 21,266,921 F112L probably damaging Het
Cd200 T A 16: 45,397,046 D94V probably damaging Het
Cfap46 T C 7: 139,614,443 K2285R probably benign Het
Clhc1 T A 11: 29,571,745 I426N probably damaging Het
Cnnm2 T A 19: 46,763,220 V483E probably damaging Het
Dlc1 A T 8: 36,570,282 probably benign Het
Fpgs T C 2: 32,687,997 I138V possibly damaging Het
Gpr152 T C 19: 4,143,507 V349A probably benign Het
Hk1 C A 10: 62,286,348 E523* probably null Het
Krt6a T G 15: 101,692,794 K241N probably damaging Het
Mcm3ap A G 10: 76,471,177 S375G probably benign Het
Meikin C T 11: 54,398,494 P231L probably damaging Het
Micall1 G A 15: 79,115,021 probably benign Het
Mvk G A 5: 114,445,441 V14I probably benign Het
Myo6 C T 9: 80,292,472 S1021L probably damaging Het
N4bp2l2 G A 5: 150,661,936 T193M probably benign Het
Naip5 G T 13: 100,230,771 D272E probably damaging Het
Nptn T A 9: 58,643,639 N316K probably damaging Het
Pde6c T C 19: 38,162,876 probably benign Het
Prg4 T A 1: 150,451,920 I850L probably damaging Het
Rdm1 T G 11: 101,635,754 C251G possibly damaging Het
Rps6kl1 G A 12: 85,139,383 P291L probably benign Het
Sel1l A G 12: 91,814,613 probably benign Het
Serpinb1b T C 13: 33,093,867 F361S probably damaging Het
Sirpb1a G A 3: 15,410,728 probably benign Het
Smpd1 T G 7: 105,556,641 V405G probably damaging Het
St5 G A 7: 109,527,708 A932V possibly damaging Het
Tead3 T C 17: 28,332,806 T438A possibly damaging Het
Treh A T 9: 44,683,900 D89V probably damaging Het
Trim10 A T 17: 36,877,248 H452L probably benign Het
Ttc30a1 C A 2: 75,981,741 probably benign Het
Uhrf1bp1l A C 10: 89,779,984 D163A probably damaging Het
Xdh A T 17: 73,923,106 F277I possibly damaging Het
Zswim4 T G 8: 84,212,140 T1038P probably damaging Het
Other mutations in Ugt2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Ugt2b1 APN 5 86926196 missense probably benign 0.00
IGL02591:Ugt2b1 APN 5 86917704 missense probably damaging 1.00
IGL02795:Ugt2b1 APN 5 86917701 missense probably damaging 1.00
IGL02993:Ugt2b1 APN 5 86921991 missense possibly damaging 0.86
IGL03057:Ugt2b1 APN 5 86926341 missense possibly damaging 0.59
IGL03084:Ugt2b1 APN 5 86926384 missense probably benign 0.00
PIT4531001:Ugt2b1 UTSW 5 86926483 missense probably benign 0.00
R0125:Ugt2b1 UTSW 5 86926102 missense probably benign
R0480:Ugt2b1 UTSW 5 86926456 missense probably benign 0.00
R0551:Ugt2b1 UTSW 5 86926084 missense probably benign 0.01
R0601:Ugt2b1 UTSW 5 86917680 missense possibly damaging 0.53
R0626:Ugt2b1 UTSW 5 86925861 missense probably null 0.13
R1238:Ugt2b1 UTSW 5 86926129 missense probably benign 0.00
R1623:Ugt2b1 UTSW 5 86926408 missense probably benign 0.25
R1919:Ugt2b1 UTSW 5 86926000 missense probably benign 0.00
R1930:Ugt2b1 UTSW 5 86917841 missense probably damaging 1.00
R1931:Ugt2b1 UTSW 5 86917841 missense probably damaging 1.00
R1955:Ugt2b1 UTSW 5 86917713 missense probably damaging 1.00
R3973:Ugt2b1 UTSW 5 86917675 missense probably benign 0.19
R3976:Ugt2b1 UTSW 5 86917675 missense probably benign 0.19
R4115:Ugt2b1 UTSW 5 86926414 missense probably damaging 0.99
R5018:Ugt2b1 UTSW 5 86925962 nonsense probably null
R5043:Ugt2b1 UTSW 5 86917644 missense possibly damaging 0.94
R5765:Ugt2b1 UTSW 5 86919406 missense probably benign 0.32
R5959:Ugt2b1 UTSW 5 86925954 missense probably benign 0.42
R5985:Ugt2b1 UTSW 5 86919668 missense possibly damaging 0.56
R6791:Ugt2b1 UTSW 5 86919257 missense probably damaging 1.00
R7380:Ugt2b1 UTSW 5 86917719 missense not run
R7414:Ugt2b1 UTSW 5 86925834 missense probably damaging 0.97
R8519:Ugt2b1 UTSW 5 86926467 missense probably damaging 0.99
X0017:Ugt2b1 UTSW 5 86926329 missense probably benign
X0027:Ugt2b1 UTSW 5 86925798 missense probably benign 0.00
Posted On2012-04-20