|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7388 (G1)|
|Chromosomal Location||103170649-103215164 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 103189785 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000037617 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036195] [ENSMUST00000150285]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality and chondrodystrophy associated with impaired chondroitin sulfate biosynthesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc35d1||
(F):5'- TGGGTGGCACTCATCTCATG -3'
(R):5'- AAAGCTCTCAGTTGCTCAGAG -3'
(F):5'- GGCACTCATCTCATGGTATGTAAACG -3'
(R):5'- TCAGTTGCTCAGAGCCTGC -3'