|Institutional Source||Beutler Lab|
|Gene Name||UDP glucuronosyltransferase 2 family, polypeptide B1|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R0551 (G1)|
|Chromosomal Location||86916638-86926530 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 86926084 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 139 (K139E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031183 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031183]|
|Predicted Effect||probably benign
AA Change: K139E
PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: K139E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
|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||
|Other mutations in Ugt2b1||
(F):5'- GCAGTATTTTGCCTTGCTAAGAGCCTA -3'
(R):5'- TGGATGAACTTGTCCAGAGAGGTCA -3'
(F):5'- CATCACTGTAAAACTGATTCCAGG -3'
(R):5'- GGCCGAGCAATGAATCTTC -3'