|Institutional Source||Beutler Lab|
|Gene Name||carbohydrate (chondroitin 4) sulfotransferase 13|
|Synonyms||Chst13, C4ST-3, 1110067M19Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R3522 (G1)|
|Chromosomal Location||90308349-90325185 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 90318263 bp|
|Amino Acid Change||Aspartic acid to Alanine at position 56 (D56A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064897 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070890]|
|Predicted Effect||probably damaging
AA Change: D56A
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D56A
|Meta Mutation Damage Score||0.156|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
|MGI Phenotype||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 the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chst13||
(F):5'- GCATAGGACAATCACAGGCC -3'
(R):5'- CCAAGGACACTGTTCTACCAG -3'
(F):5'- AATCACAGGCCTCAGTTGTG -3'
(R):5'- TCACCTATCAAATACCCAGGAGG -3'