|Institutional Source||Beutler Lab|
|Gene Name||N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1|
|Synonyms||glucosaminyl N-deacetylase/N-sulfotransferase 1, b2b2230Clo, Hsst, Ndst-1, 1200015G06Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1718 (G1)|
|Chromosomal Location||60685978-60713389 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 60707803 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 269 (D269G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126623 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000169273]|
|Predicted Effect||probably damaging
AA Change: D269G
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: D269G
|Meta Mutation Damage Score||0.8987|
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die late in gestation or neonatally. Lungs fail to inflate and mice born alive experience respiratory distress and failure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ndst1||
(F):5'- GCTCCATGACGCACTCTAAGTCTC -3'
(R):5'- TCACCACTGCTCTATGTGACACGG -3'
(F):5'- GACGCACTCTAAGTCTCTCCTTAC -3'
(R):5'- TCTATGTGACACGGCCCAG -3'