Incidental Mutation 'IGL01578:Ndst1'
ID 91337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndst1
Ensembl Gene ENSMUSG00000054008
Gene Name N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
Synonyms glucosaminyl N-deacetylase/N-sulfotransferase 1, b2b2230Clo, Hsst, Ndst-1, 1200015G06Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01578
Quality Score
Status
Chromosome 18
Chromosomal Location 60685978-60713389 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60713126 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 37 (Y37C)
Ref Sequence ENSEMBL: ENSMUSP00000126623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169273]
AlphaFold Q3UHN9
Predicted Effect probably damaging
Transcript: ENSMUST00000169273
AA Change: Y37C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: Y37C

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:HSNSD 25 515 5.1e-254 PFAM
Pfam:Sulfotransfer_1 604 869 2.2e-48 PFAM
Coding Region Coverage
Validation Efficiency
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 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
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,270,710 E3167G unknown Het
Arhgap28 G A 17: 67,858,200 T516I probably benign Het
Birc6 T C 17: 74,648,197 C3486R probably benign Het
Camk2g G A 14: 20,747,854 probably benign Het
Dmxl1 T A 18: 49,962,205 H2950Q probably damaging Het
Eml6 A T 11: 29,850,870 S379T probably benign Het
Epb41l3 C T 17: 69,248,709 H13Y probably damaging Het
Fam149a A T 8: 45,350,442 D337E probably damaging Het
Galnt14 T A 17: 73,535,366 probably benign Het
Gm6489 G T 1: 31,287,335 noncoding transcript Het
Hspg2 G A 4: 137,539,183 R1885H probably damaging Het
Jag1 T A 2: 137,100,051 probably benign Het
Nalcn A T 14: 123,572,091 N216K probably benign Het
Nr2c2 A G 6: 92,162,038 N486S probably benign Het
Obscn A T 11: 58,999,680 L7342Q unknown Het
Olfr1051 C A 2: 86,275,741 V249F probably damaging Het
Olfr1402 A T 3: 97,410,720 C154S probably damaging Het
Olfr661 A G 7: 104,688,845 I277V probably benign Het
Pou4f2 A C 8: 78,435,655 D106E probably damaging Het
Ppic G A 18: 53,417,929 P10S unknown Het
Psd2 A G 18: 35,979,785 T178A probably damaging Het
Slc25a34 G T 4: 141,622,510 probably null Het
Stap2 A G 17: 55,997,623 S360P probably benign Het
Stx3 T C 19: 11,786,605 E129G probably damaging Het
Sun3 T A 11: 9,029,436 E28D probably damaging Het
Tmem126a C T 7: 90,451,542 probably null Het
Trove2 A T 1: 143,761,300 N391K probably damaging Het
Trpc6 A T 9: 8,634,057 H379L probably damaging Het
Ttf2 A G 3: 100,956,195 S608P possibly damaging Het
Tubgcp3 T C 8: 12,661,297 probably benign Het
Other mutations in Ndst1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ndst1 APN 18 60707956 missense probably damaging 1.00
IGL01410:Ndst1 APN 18 60700445 missense probably damaging 1.00
IGL02133:Ndst1 APN 18 60699546 missense probably benign 0.05
IGL03200:Ndst1 APN 18 60699539 missense possibly damaging 0.86
R0631:Ndst1 UTSW 18 60700359 splice site probably benign
R0899:Ndst1 UTSW 18 60707882 missense probably benign 0.00
R1104:Ndst1 UTSW 18 60697146 missense probably damaging 0.98
R1371:Ndst1 UTSW 18 60707647 missense possibly damaging 0.90
R1456:Ndst1 UTSW 18 60713205 missense possibly damaging 0.73
R1511:Ndst1 UTSW 18 60697170 missense possibly damaging 0.61
R1524:Ndst1 UTSW 18 60698504 missense probably damaging 0.99
R1699:Ndst1 UTSW 18 60695508 missense probably damaging 1.00
R1718:Ndst1 UTSW 18 60707803 missense probably damaging 0.99
R1772:Ndst1 UTSW 18 60702837 missense probably damaging 0.99
R1900:Ndst1 UTSW 18 60712721 critical splice donor site probably null
R2079:Ndst1 UTSW 18 60695509 missense probably damaging 1.00
R2105:Ndst1 UTSW 18 60691253 missense probably benign 0.01
R2127:Ndst1 UTSW 18 60691208 missense probably benign 0.00
R2875:Ndst1 UTSW 18 60690047 missense probably damaging 1.00
R3798:Ndst1 UTSW 18 60713166 missense possibly damaging 0.94
R3950:Ndst1 UTSW 18 60697139 missense probably benign 0.12
R3951:Ndst1 UTSW 18 60697139 missense probably benign 0.12
R3952:Ndst1 UTSW 18 60697139 missense probably benign 0.12
R4868:Ndst1 UTSW 18 60695476 missense probably benign 0.07
R4898:Ndst1 UTSW 18 60691987 missense probably benign 0.12
R4988:Ndst1 UTSW 18 60702933 missense probably damaging 0.99
R5271:Ndst1 UTSW 18 60705132 missense probably benign 0.03
R5337:Ndst1 UTSW 18 60690007 missense probably damaging 1.00
R5467:Ndst1 UTSW 18 60692021 missense probably benign
R5830:Ndst1 UTSW 18 60703838 missense probably damaging 1.00
R5968:Ndst1 UTSW 18 60713076 missense probably benign
R6241:Ndst1 UTSW 18 60703829 missense probably damaging 0.99
R6422:Ndst1 UTSW 18 60702953 missense probably benign 0.44
R7099:Ndst1 UTSW 18 60695500 missense possibly damaging 0.88
R7544:Ndst1 UTSW 18 60697184 missense probably damaging 1.00
R8918:Ndst1 UTSW 18 60692011 missense probably benign 0.00
R8951:Ndst1 UTSW 18 60697124 missense probably benign
R9187:Ndst1 UTSW 18 60691196 missense probably benign 0.03
R9374:Ndst1 UTSW 18 60712859 missense probably damaging 0.97
V8831:Ndst1 UTSW 18 60702927 missense probably damaging 1.00
Posted On 2013-12-09