|Institutional Source||Beutler Lab|
|Gene Name||carbohydrate sulfotransferase 11|
|Synonyms||C4ST1, 1110020P09Rik, C4ST, chondroitin 4, C4ST-1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R9194 (G1)|
|Chromosomal Location||82985498-83195900 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 83191485 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 249 (T249A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045349 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040110]|
AA Change: T249A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T249A
|Coding Region Coverage||
|Validation Efficiency||94% (44/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, dwarfism, and abnormal skeletal structures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chst11||
(F):5'- CATGAAGTTCCTGTTCGTGCG -3'
(R):5'- GGTCATCTCGTCGGTAGTTC -3'
(F):5'- AACCCTTCGAGAGGCTGGTG -3'
(R):5'- AGTTCGGGTGGACTTTGCATAG -3'