Incidental Mutation 'R1830:Ndst3'
ID 207208
Institutional Source Beutler Lab
Gene Symbol Ndst3
Ensembl Gene ENSMUSG00000027977
Gene Name N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
Synonyms 4930511P15Rik, 4921531K01Rik
MMRRC Submission 039857-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R1830 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 123319815-123484502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123342587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 741 (R741S)
Ref Sequence ENSEMBL: ENSMUSP00000133657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029602] [ENSMUST00000124803] [ENSMUST00000132112] [ENSMUST00000137404] [ENSMUST00000154668] [ENSMUST00000172537]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029602
AA Change: R741S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: R741S

DomainStartEndE-ValueType
Pfam:HSNSD 19 506 4.6e-272 PFAM
Pfam:Sulfotransfer_1 595 858 8.4e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124803
AA Change: R326S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122617
Gene: ENSMUSG00000027977
AA Change: R326S

DomainStartEndE-ValueType
Pfam:HSNSD 1 91 1.7e-62 PFAM
Pfam:Sulfotransfer_1 180 443 7.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132112
AA Change: R326S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000120623
Gene: ENSMUSG00000027977
AA Change: R326S

DomainStartEndE-ValueType
Pfam:HSNSD 1 91 1.7e-62 PFAM
Pfam:Sulfotransfer_1 180 443 7.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137404
SMART Domains Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977

DomainStartEndE-ValueType
Pfam:HSNSD 19 506 6.4e-272 PFAM
PDB:1NST|A 549 637 2e-38 PDB
SCOP:d1nsta_ 570 641 9e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154668
AA Change: R741S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: R741S

DomainStartEndE-ValueType
Pfam:HSNSD 20 506 1.7e-253 PFAM
Pfam:Sulfotransfer_1 595 858 8.4e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172537
AA Change: R741S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: R741S

DomainStartEndE-ValueType
Pfam:HSNSD 20 328 2.4e-130 PFAM
Pfam:HSNSD 326 425 8.2e-62 PFAM
PDB:1NST|A 468 556 7e-39 PDB
SCOP:d1nsta_ 489 560 5e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199046
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.4%
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. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased anxiety-related behavior, cholesterol levels and CD8+ T cells due to moderate heparan-sulfate undersulfation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,350 (GRCm39) S738P probably benign Het
Abi3bp C A 16: 56,408,348 (GRCm39) P261Q probably damaging Het
Adam19 A G 11: 46,018,105 (GRCm39) N389S probably damaging Het
Adgrv1 A T 13: 81,637,196 (GRCm39) V3415D possibly damaging Het
Ankrd33 A T 15: 101,017,432 (GRCm39) I282F probably damaging Het
Arhgap39 C T 15: 76,619,383 (GRCm39) V734M probably damaging Het
Arsg T C 11: 109,454,100 (GRCm39) probably null Het
Atp8b4 C T 2: 126,245,301 (GRCm39) G283R probably benign Het
B3galnt2 T G 13: 14,166,119 (GRCm39) L338* probably null Het
Cdc14a A T 3: 116,216,296 (GRCm39) Y1* probably null Het
Ceacam16 T C 7: 19,592,803 (GRCm39) E35G possibly damaging Het
Cfap46 T A 7: 139,220,323 (GRCm39) D1244V possibly damaging Het
Chordc1 T C 9: 18,223,274 (GRCm39) Y245H probably damaging Het
Col6a6 C A 9: 105,579,469 (GRCm39) V1919F probably damaging Het
Colgalt1 T C 8: 72,075,781 (GRCm39) V476A probably damaging Het
Cped1 T C 6: 22,237,727 (GRCm39) C948R probably damaging Het
Cyfip2 T C 11: 46,089,846 (GRCm39) D1189G probably damaging Het
Cyp27b1 T C 10: 126,884,952 (GRCm39) Y72H possibly damaging Het
Dagla A G 19: 10,248,378 (GRCm39) M94T probably benign Het
Dip2a A G 10: 76,153,797 (GRCm39) S178P probably damaging Het
Dlec1 T C 9: 118,967,858 (GRCm39) V1220A probably benign Het
Dpysl2 T C 14: 67,105,840 (GRCm39) probably benign Het
E2f6 T C 12: 16,868,884 (GRCm39) V69A probably benign Het
Fat3 T C 9: 15,826,636 (GRCm39) T4439A probably benign Het
Fn1 T C 1: 71,663,418 (GRCm39) I1023M probably damaging Het
Gabrr2 G A 4: 33,077,481 (GRCm39) V83M probably damaging Het
Gfral T C 9: 76,100,485 (GRCm39) N318D probably benign Het
Gm5611 A T 9: 16,942,073 (GRCm39) noncoding transcript Het
Gpat3 A T 5: 101,041,046 (GRCm39) M369L probably benign Het
Grik5 T C 7: 24,745,726 (GRCm39) D449G possibly damaging Het
Gucy2g T A 19: 55,211,362 (GRCm39) T623S possibly damaging Het
H2-T22 T C 17: 36,352,434 (GRCm39) T164A probably benign Het
Herc1 T A 9: 66,404,881 (GRCm39) C4484S possibly damaging Het
Hira T C 16: 18,766,164 (GRCm39) S659P probably damaging Het
Hoxa7 T C 6: 52,194,307 (GRCm39) T27A possibly damaging Het
Hoxd1 T C 2: 74,593,866 (GRCm39) S141P probably damaging Het
Kank1 C A 19: 25,388,396 (GRCm39) Q690K probably benign Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kifbp T C 10: 62,395,106 (GRCm39) Y512C probably damaging Het
Lepr A C 4: 101,592,874 (GRCm39) Y163S probably damaging Het
Leprotl1 T C 8: 34,607,922 (GRCm39) I29V probably benign Het
Lrriq1 T G 10: 102,997,620 (GRCm39) T1332P probably benign Het
Mrps15 A G 4: 125,949,200 (GRCm39) K223E probably damaging Het
Mrps7 T A 11: 115,497,811 (GRCm39) N225K probably benign Het
Nav3 T A 10: 109,659,184 (GRCm39) D811V probably damaging Het
Nos3 T C 5: 24,575,131 (GRCm39) Y356H probably damaging Het
Nxpe3 A G 16: 55,686,444 (GRCm39) V188A probably damaging Het
Or13n4 T C 7: 106,423,317 (GRCm39) R139G probably benign Het
Or5p50 T A 7: 107,422,578 (GRCm39) I33F probably benign Het
Or8j3b T C 2: 86,205,487 (GRCm39) K90E possibly damaging Het
Pdia4 A T 6: 47,773,695 (GRCm39) C551* probably null Het
Pex13 A G 11: 23,605,513 (GRCm39) F239S probably damaging Het
Pigq A G 17: 26,153,980 (GRCm39) M273T probably benign Het
Plppr2 C T 9: 21,859,047 (GRCm39) P388L probably damaging Het
Polr3b C T 10: 84,528,786 (GRCm39) Q737* probably null Het
Ppfibp1 T C 6: 146,923,757 (GRCm39) probably null Het
Ppfibp2 C A 7: 107,236,504 (GRCm39) D17E probably damaging Het
Pramel34 A T 5: 93,785,545 (GRCm39) I245K probably benign Het
Prr35 T C 17: 26,165,691 (GRCm39) D532G possibly damaging Het
Ptpn13 A G 5: 103,691,325 (GRCm39) D1064G probably benign Het
Qtrt2 A T 16: 43,692,018 (GRCm39) S168T probably damaging Het
Rbp3 T C 14: 33,676,601 (GRCm39) V183A probably benign Het
Shprh T C 10: 11,062,655 (GRCm39) probably null Het
Slc39a10 T C 1: 46,875,230 (GRCm39) H24R probably damaging Het
Slc7a13 A T 4: 19,819,046 (GRCm39) H82L probably benign Het
Sptbn2 A G 19: 4,782,569 (GRCm39) I502V probably benign Het
Syne2 C T 12: 76,156,636 (GRCm39) R6811C probably damaging Het
Syt12 A G 19: 4,506,911 (GRCm39) V78A probably benign Het
Tbck T A 3: 132,543,772 (GRCm39) D874E probably benign Het
Tesc A T 5: 118,184,394 (GRCm39) I25L probably damaging Het
Thoc5 T G 11: 4,864,608 (GRCm39) D351E probably benign Het
Tor1aip1 A T 1: 155,883,308 (GRCm39) M180K probably damaging Het
Trps1 T C 15: 50,524,532 (GRCm39) S842G probably damaging Het
Unc79 A T 12: 103,100,737 (GRCm39) T1858S probably damaging Het
Vmn1r193 T C 13: 22,403,561 (GRCm39) T144A probably benign Het
Vwa8 T C 14: 79,318,576 (GRCm39) F1046S probably benign Het
Wdr26 A T 1: 181,019,340 (GRCm39) W346R probably damaging Het
Zfp740 T A 15: 102,116,336 (GRCm39) V22E probably damaging Het
Zw10 C A 9: 48,981,041 (GRCm39) S480R probably damaging Het
Other mutations in Ndst3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Ndst3 APN 3 123,421,599 (GRCm39) splice site probably benign
IGL00543:Ndst3 APN 3 123,465,912 (GRCm39) missense probably damaging 0.99
IGL01067:Ndst3 APN 3 123,340,466 (GRCm39) missense probably damaging 1.00
IGL01301:Ndst3 APN 3 123,342,565 (GRCm39) missense probably damaging 0.97
IGL01975:Ndst3 APN 3 123,395,163 (GRCm39) missense possibly damaging 0.67
IGL02376:Ndst3 APN 3 123,350,447 (GRCm39) missense probably damaging 0.98
IGL02715:Ndst3 APN 3 123,340,410 (GRCm39) splice site probably benign
IGL03111:Ndst3 APN 3 123,465,745 (GRCm39) missense possibly damaging 0.96
Jack_sprat UTSW 3 123,346,201 (GRCm39) missense probably damaging 0.99
ANU18:Ndst3 UTSW 3 123,342,565 (GRCm39) missense probably damaging 0.97
R0027:Ndst3 UTSW 3 123,465,162 (GRCm39) missense probably damaging 1.00
R0288:Ndst3 UTSW 3 123,465,843 (GRCm39) missense probably benign 0.03
R0630:Ndst3 UTSW 3 123,355,720 (GRCm39) missense probably damaging 0.98
R1168:Ndst3 UTSW 3 123,400,617 (GRCm39) missense probably benign 0.22
R1400:Ndst3 UTSW 3 123,350,477 (GRCm39) missense probably damaging 1.00
R1513:Ndst3 UTSW 3 123,395,104 (GRCm39) missense possibly damaging 0.75
R1524:Ndst3 UTSW 3 123,342,555 (GRCm39) missense possibly damaging 0.94
R1831:Ndst3 UTSW 3 123,395,127 (GRCm39) missense probably benign
R1865:Ndst3 UTSW 3 123,465,120 (GRCm39) missense probably damaging 1.00
R1871:Ndst3 UTSW 3 123,355,673 (GRCm39) missense probably damaging 1.00
R2041:Ndst3 UTSW 3 123,465,864 (GRCm39) missense probably benign 0.01
R2056:Ndst3 UTSW 3 123,465,534 (GRCm39) missense probably damaging 0.98
R2362:Ndst3 UTSW 3 123,346,327 (GRCm39) missense possibly damaging 0.94
R2484:Ndst3 UTSW 3 123,346,186 (GRCm39) missense possibly damaging 0.83
R3747:Ndst3 UTSW 3 123,465,201 (GRCm39) missense probably benign 0.09
R4152:Ndst3 UTSW 3 123,465,876 (GRCm39) missense probably damaging 1.00
R4153:Ndst3 UTSW 3 123,465,876 (GRCm39) missense probably damaging 1.00
R4154:Ndst3 UTSW 3 123,465,876 (GRCm39) missense probably damaging 1.00
R4512:Ndst3 UTSW 3 123,465,315 (GRCm39) missense probably damaging 1.00
R4579:Ndst3 UTSW 3 123,340,474 (GRCm39) missense probably benign 0.00
R4611:Ndst3 UTSW 3 123,465,198 (GRCm39) missense probably benign 0.35
R4646:Ndst3 UTSW 3 123,465,684 (GRCm39) missense probably damaging 0.96
R4718:Ndst3 UTSW 3 123,465,915 (GRCm39) missense probably benign 0.35
R4944:Ndst3 UTSW 3 123,400,676 (GRCm39) missense probably damaging 0.99
R4945:Ndst3 UTSW 3 123,346,201 (GRCm39) missense probably damaging 1.00
R5179:Ndst3 UTSW 3 123,346,181 (GRCm39) missense probably damaging 0.97
R5232:Ndst3 UTSW 3 123,465,888 (GRCm39) missense probably damaging 0.99
R5421:Ndst3 UTSW 3 123,428,008 (GRCm39) splice site probably null
R5874:Ndst3 UTSW 3 123,355,556 (GRCm39) missense probably damaging 1.00
R6030:Ndst3 UTSW 3 123,346,168 (GRCm39) missense probably damaging 1.00
R6030:Ndst3 UTSW 3 123,346,168 (GRCm39) missense probably damaging 1.00
R6228:Ndst3 UTSW 3 123,465,301 (GRCm39) nonsense probably null
R6496:Ndst3 UTSW 3 123,346,201 (GRCm39) missense probably damaging 0.99
R6562:Ndst3 UTSW 3 123,346,181 (GRCm39) missense probably damaging 0.97
R7045:Ndst3 UTSW 3 123,465,732 (GRCm39) missense probably damaging 0.96
R7152:Ndst3 UTSW 3 123,346,305 (GRCm39) missense possibly damaging 0.66
R7202:Ndst3 UTSW 3 123,465,388 (GRCm39) missense possibly damaging 0.94
R7239:Ndst3 UTSW 3 123,400,555 (GRCm39) missense probably damaging 1.00
R7305:Ndst3 UTSW 3 123,395,131 (GRCm39) missense possibly damaging 0.62
R7417:Ndst3 UTSW 3 123,465,313 (GRCm39) missense probably damaging 1.00
R7469:Ndst3 UTSW 3 123,465,310 (GRCm39) missense possibly damaging 0.82
R7553:Ndst3 UTSW 3 123,350,709 (GRCm39) splice site probably null
R7955:Ndst3 UTSW 3 123,400,586 (GRCm39) missense probably benign 0.01
R8065:Ndst3 UTSW 3 123,395,094 (GRCm39) missense probably damaging 1.00
R8067:Ndst3 UTSW 3 123,395,094 (GRCm39) missense probably damaging 1.00
R8363:Ndst3 UTSW 3 123,350,517 (GRCm39) missense possibly damaging 0.83
R8708:Ndst3 UTSW 3 123,322,564 (GRCm39) missense probably benign 0.01
R8752:Ndst3 UTSW 3 123,342,684 (GRCm39) missense probably damaging 1.00
R9051:Ndst3 UTSW 3 123,465,549 (GRCm39) missense probably benign 0.00
R9428:Ndst3 UTSW 3 123,340,518 (GRCm39) missense probably benign 0.00
R9511:Ndst3 UTSW 3 123,400,555 (GRCm39) missense probably damaging 1.00
R9537:Ndst3 UTSW 3 123,465,162 (GRCm39) missense
R9662:Ndst3 UTSW 3 123,465,115 (GRCm39) missense probably benign 0.01
R9667:Ndst3 UTSW 3 123,353,866 (GRCm39) missense possibly damaging 0.67
R9747:Ndst3 UTSW 3 123,340,461 (GRCm39) missense possibly damaging 0.84
R9748:Ndst3 UTSW 3 123,421,631 (GRCm39) missense probably benign 0.17
Z1176:Ndst3 UTSW 3 123,465,143 (GRCm39) missense probably damaging 1.00
Z1176:Ndst3 UTSW 3 123,421,618 (GRCm39) missense possibly damaging 0.49
Z1176:Ndst3 UTSW 3 123,346,279 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACCAGGGAGAATTAGCCTG -3'
(R):5'- GCCATTATTTCTTTAGCTTTGGGAC -3'

Sequencing Primer
(F):5'- GGAGAATTAGCCTGAGATACTCTTAG -3'
(R):5'- TGGGACTTGTCAAAAATATTGGG -3'
Posted On 2014-06-23