|Institutional Source||Beutler Lab|
|Gene Name||UDP glucuronosyltransferase 2 family, polypeptide B1|
|Is this an essential gene?||Probably non essential (E-score: 0.075)|
|Stock #||R8519 (G1)|
|Chromosomal Location||86916638-86926530 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 86926467 bp|
|Amino Acid Change||Leucine to Serine at position 11 (L11S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031183 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031183]|
|Predicted Effect||probably damaging
AA Change: L11S
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: L11S
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
|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'- AGAAGATTCATTGCTCGGCC -3'
(R):5'- ACAAACTTCGTGAACCTTGAGC -3'
(F):5'- GAAGATTCATTGCTCGGCCCAATG -3'
(R):5'- CAAACTTCGTGAACCTTGAGCTCATG -3'