Incidental Mutation 'R1456:Ndst1'
ID 161830
Institutional Source Beutler Lab
Gene Symbol Ndst1
Ensembl Gene ENSMUSG00000054008
Gene Name N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
Synonyms Ndst-1, b2b2230Clo, 1200015G06Rik, Hsst, glucosaminyl N-deacetylase/N-sulfotransferase 1
MMRRC Submission 039511-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1456 (G1)
Quality Score 155
Status Validated
Chromosome 18
Chromosomal Location 60817566-60881722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60846277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 11 (C11R)
Ref Sequence ENSEMBL: ENSMUSP00000126623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169273]
AlphaFold Q3UHN9
Predicted Effect possibly damaging
Transcript: ENSMUST00000169273
AA Change: C11R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: C11R

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
Meta Mutation Damage Score 0.3732 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 98% (90/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik C T 2: 19,485,731 (GRCm39) probably null Het
4932414N04Rik A T 2: 68,546,558 (GRCm39) E80V possibly damaging Het
Alkbh3 A G 2: 93,831,764 (GRCm39) probably null Het
Ankar A T 1: 72,704,277 (GRCm39) Y664N probably benign Het
Arhgap18 T C 10: 26,792,436 (GRCm39) I629T probably benign Het
Arhgef28 C T 13: 98,211,510 (GRCm39) E158K probably benign Het
Asxl2 C T 12: 3,551,872 (GRCm39) H1205Y possibly damaging Het
Birc6 A G 17: 74,916,285 (GRCm39) I427V probably benign Het
Camk4 A G 18: 33,262,896 (GRCm39) probably benign Het
Ccdc178 A T 18: 22,283,481 (GRCm39) D16E possibly damaging Het
Cct6b G T 11: 82,644,446 (GRCm39) probably benign Het
Ccz1 A G 5: 143,947,836 (GRCm39) probably benign Het
Cdh23 T C 10: 60,322,899 (GRCm39) N335S possibly damaging Het
Cemip T A 7: 83,647,718 (GRCm39) S121C possibly damaging Het
Cers1 A G 8: 70,783,838 (GRCm39) E262G probably damaging Het
Clec11a G T 7: 43,955,874 (GRCm39) P58T possibly damaging Het
Clec16a T C 16: 10,509,419 (GRCm39) I797T probably damaging Het
Col4a1 A C 8: 11,292,829 (GRCm39) probably benign Het
Colgalt2 G A 1: 152,360,655 (GRCm39) V231I probably damaging Het
D430041D05Rik G T 2: 104,038,428 (GRCm39) N1580K probably damaging Het
Dcdc5 A G 2: 106,181,910 (GRCm39) noncoding transcript Het
Ddx17 T C 15: 79,414,577 (GRCm39) D530G probably benign Het
Dhx9 A T 1: 153,341,441 (GRCm39) D601E probably benign Het
Dnah3 A G 7: 119,646,853 (GRCm39) Y1059H probably damaging Het
Dtx1 C A 5: 120,848,569 (GRCm39) probably benign Het
Egfr A G 11: 16,813,065 (GRCm39) S182G probably benign Het
Fads1 A G 19: 10,163,116 (GRCm39) N131S probably benign Het
Fam243 T A 16: 92,117,553 (GRCm39) Y245F probably damaging Het
Fancm C T 12: 65,165,125 (GRCm39) A1490V possibly damaging Het
Fsd2 C A 7: 81,209,339 (GRCm39) E168* probably null Het
Galnt2l T C 8: 123,568,687 (GRCm39) probably benign Het
Gm9772 A T 17: 22,226,099 (GRCm39) C62S probably damaging Het
H60c C T 10: 3,210,307 (GRCm39) A81T possibly damaging Het
Hira T G 16: 18,744,413 (GRCm39) S377A probably benign Het
Iffo1 T C 6: 125,122,877 (GRCm39) S220P possibly damaging Het
Itih4 A G 14: 30,614,610 (GRCm39) M491V probably benign Het
Khdrbs2 T C 1: 32,559,777 (GRCm39) R102G possibly damaging Het
Klhdc7a T G 4: 139,692,835 (GRCm39) Y704S possibly damaging Het
Klk1b21 G A 7: 43,754,923 (GRCm39) V73I probably benign Het
Krt42 G A 11: 100,160,435 (GRCm39) A88V probably benign Het
Krt42 C T 11: 100,160,436 (GRCm39) A88T probably benign Het
Limk1 G T 5: 134,686,364 (GRCm39) D580E probably benign Het
Lipk C T 19: 34,024,185 (GRCm39) P323S probably damaging Het
Lipo5 T A 19: 33,443,273 (GRCm39) probably benign Het
Llgl2 A G 11: 115,736,325 (GRCm39) D166G probably benign Het
Mapk8ip3 A T 17: 25,125,923 (GRCm39) N439K probably damaging Het
Mapkbp1 C T 2: 119,803,626 (GRCm39) R32W probably damaging Het
Med23 T A 10: 24,779,550 (GRCm39) probably benign Het
Mrgprb1 A T 7: 48,097,777 (GRCm39) M45K probably damaging Het
Mroh7 G A 4: 106,552,338 (GRCm39) probably benign Het
Mrpl27 G A 11: 94,544,659 (GRCm39) probably benign Het
Ms4a10 T A 19: 10,942,097 (GRCm39) T175S possibly damaging Het
Muc17 T C 5: 137,166,799 (GRCm39) H330R probably benign Het
Myo15a A T 11: 60,399,028 (GRCm39) I2787F probably damaging Het
Obsl1 C A 1: 75,464,300 (GRCm39) G1669* probably null Het
Or5p56 A G 7: 107,589,605 (GRCm39) E11G probably benign Het
Or6c208 A T 10: 129,223,652 (GRCm39) D50V probably damaging Het
Or7e177 T C 9: 20,212,134 (GRCm39) Y214H probably benign Het
Pafah2 T A 4: 134,131,468 (GRCm39) I52N probably damaging Het
Pcsk6 A T 7: 65,693,283 (GRCm39) I693F possibly damaging Het
Pde4c G T 8: 71,199,262 (GRCm39) R228L probably benign Het
Pdzd8 T C 19: 59,288,904 (GRCm39) N832S probably benign Het
Plbd1 T A 6: 136,590,814 (GRCm39) M451L probably benign Het
Pramel14 G T 4: 143,719,851 (GRCm39) D171E probably benign Het
Prom1 T C 5: 44,194,965 (GRCm39) D260G probably damaging Het
Ranbp17 A G 11: 33,216,310 (GRCm39) S813P probably damaging Het
Scn10a T C 9: 119,520,544 (GRCm39) I119V probably benign Het
Sh3pxd2b A G 11: 32,365,967 (GRCm39) T353A probably damaging Het
Shq1 A T 6: 100,646,659 (GRCm39) probably null Het
Slc22a28 T A 19: 8,049,223 (GRCm39) H342L possibly damaging Het
Slco2b1 C T 7: 99,314,114 (GRCm39) E9K probably null Het
Specc1l T C 10: 75,082,118 (GRCm39) F505L probably damaging Het
Sptan1 G T 2: 29,870,215 (GRCm39) probably null Het
St6gal2 A G 17: 55,797,932 (GRCm39) probably benign Het
Taok2 T C 7: 126,479,313 (GRCm39) I73V probably benign Het
Tax1bp1 C T 6: 52,721,229 (GRCm39) T478I probably benign Het
Tbc1d4 A T 14: 101,744,542 (GRCm39) N361K probably damaging Het
Tph1 A T 7: 46,296,907 (GRCm39) Y429* probably null Het
Tprkb A T 6: 85,901,403 (GRCm39) R14W probably damaging Het
Trio A T 15: 27,753,890 (GRCm39) probably benign Het
Ttc23 T C 7: 67,316,902 (GRCm39) probably benign Het
Vmn1r211 T C 13: 23,036,415 (GRCm39) Y84C probably damaging Het
Vmn2r22 C G 6: 123,614,624 (GRCm39) G322A possibly damaging Het
Wdr74 A G 19: 8,717,776 (GRCm39) Q330R probably benign Het
Wdtc1 C A 4: 133,024,739 (GRCm39) S486I possibly damaging Het
Zbtb24 T C 10: 41,340,989 (GRCm39) V673A possibly damaging Het
Zfpm2 A T 15: 40,965,877 (GRCm39) R655S probably damaging Het
Zkscan5 A G 5: 145,157,798 (GRCm39) N694D probably benign Het
Other mutations in Ndst1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ndst1 APN 18 60,841,028 (GRCm39) missense probably damaging 1.00
IGL01410:Ndst1 APN 18 60,833,517 (GRCm39) missense probably damaging 1.00
IGL01578:Ndst1 APN 18 60,846,198 (GRCm39) missense probably damaging 1.00
IGL02133:Ndst1 APN 18 60,832,618 (GRCm39) missense probably benign 0.05
IGL03200:Ndst1 APN 18 60,832,611 (GRCm39) missense possibly damaging 0.86
R0631:Ndst1 UTSW 18 60,833,431 (GRCm39) splice site probably benign
R0899:Ndst1 UTSW 18 60,840,954 (GRCm39) missense probably benign 0.00
R1104:Ndst1 UTSW 18 60,830,218 (GRCm39) missense probably damaging 0.98
R1371:Ndst1 UTSW 18 60,840,719 (GRCm39) missense possibly damaging 0.90
R1511:Ndst1 UTSW 18 60,830,242 (GRCm39) missense possibly damaging 0.61
R1524:Ndst1 UTSW 18 60,831,576 (GRCm39) missense probably damaging 0.99
R1699:Ndst1 UTSW 18 60,828,580 (GRCm39) missense probably damaging 1.00
R1718:Ndst1 UTSW 18 60,840,875 (GRCm39) missense probably damaging 0.99
R1772:Ndst1 UTSW 18 60,835,909 (GRCm39) missense probably damaging 0.99
R1900:Ndst1 UTSW 18 60,845,793 (GRCm39) critical splice donor site probably null
R2079:Ndst1 UTSW 18 60,828,581 (GRCm39) missense probably damaging 1.00
R2105:Ndst1 UTSW 18 60,824,325 (GRCm39) missense probably benign 0.01
R2127:Ndst1 UTSW 18 60,824,280 (GRCm39) missense probably benign 0.00
R2875:Ndst1 UTSW 18 60,823,119 (GRCm39) missense probably damaging 1.00
R3798:Ndst1 UTSW 18 60,846,238 (GRCm39) missense possibly damaging 0.94
R3950:Ndst1 UTSW 18 60,830,211 (GRCm39) missense probably benign 0.12
R3951:Ndst1 UTSW 18 60,830,211 (GRCm39) missense probably benign 0.12
R3952:Ndst1 UTSW 18 60,830,211 (GRCm39) missense probably benign 0.12
R4868:Ndst1 UTSW 18 60,828,548 (GRCm39) missense probably benign 0.07
R4898:Ndst1 UTSW 18 60,825,059 (GRCm39) missense probably benign 0.12
R4988:Ndst1 UTSW 18 60,836,005 (GRCm39) missense probably damaging 0.99
R5271:Ndst1 UTSW 18 60,838,204 (GRCm39) missense probably benign 0.03
R5337:Ndst1 UTSW 18 60,823,079 (GRCm39) missense probably damaging 1.00
R5467:Ndst1 UTSW 18 60,825,093 (GRCm39) missense probably benign
R5830:Ndst1 UTSW 18 60,836,910 (GRCm39) missense probably damaging 1.00
R5968:Ndst1 UTSW 18 60,846,148 (GRCm39) missense probably benign
R6241:Ndst1 UTSW 18 60,836,901 (GRCm39) missense probably damaging 0.99
R6422:Ndst1 UTSW 18 60,836,025 (GRCm39) missense probably benign 0.44
R7099:Ndst1 UTSW 18 60,828,572 (GRCm39) missense possibly damaging 0.88
R7544:Ndst1 UTSW 18 60,830,256 (GRCm39) missense probably damaging 1.00
R8918:Ndst1 UTSW 18 60,825,083 (GRCm39) missense probably benign 0.00
R8951:Ndst1 UTSW 18 60,830,196 (GRCm39) missense probably benign
R9187:Ndst1 UTSW 18 60,824,268 (GRCm39) missense probably benign 0.03
R9374:Ndst1 UTSW 18 60,845,931 (GRCm39) missense probably damaging 0.97
R9526:Ndst1 UTSW 18 60,838,220 (GRCm39) nonsense probably null
R9552:Ndst1 UTSW 18 60,845,931 (GRCm39) missense probably damaging 0.97
R9651:Ndst1 UTSW 18 60,833,539 (GRCm39) missense probably damaging 0.96
V8831:Ndst1 UTSW 18 60,835,999 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGGATTCCAGGATTGCCACCAC -3'
(R):5'- ACTTTTGCTCTGCACAGGACCAC -3'

Sequencing Primer
(F):5'- AGCTGTGAATAAAGGCTCTCC -3'
(R):5'- CAAGACCAGCCTGTAGACTGTG -3'
Posted On 2014-03-14