Mutagenetix > Incidental Mutation

Incidental Mutation 'R0630:Ndst3'

57816

Institutional Source

Beutler Lab

Gene Symbol

Ndst3

Ensembl Gene

ENSMUSG00000027977

Gene Name

N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3

Synonyms

4930511P15Rik, 4921531K01Rik

MMRRC Submission

038819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R0630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123319815-123484502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123355720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 103 (M103T)

Ref Sequence

ENSEMBL: ENSMUSP00000120623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029602] [ENSMUST00000124803] [ENSMUST00000132112] [ENSMUST00000137404] [ENSMUST00000154668] [ENSMUST00000172537]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029602
AA Change: M518T

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: M518T

Domain	Start	End	E-Value	Type
Pfam:HSNSD	19	506	4.6e-272	PFAM
Pfam:Sulfotransfer_1	595	858	8.4e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000124803
AA Change: M103T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122617
Gene: ENSMUSG00000027977
AA Change: M103T

Domain	Start	End	E-Value	Type
Pfam:HSNSD	1	91	1.7e-62	PFAM
Pfam:Sulfotransfer_1	180	443	7.8e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000132112
AA Change: M103T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120623
Gene: ENSMUSG00000027977
AA Change: M103T

Domain	Start	End	E-Value	Type
Pfam:HSNSD	1	91	1.7e-62	PFAM
Pfam:Sulfotransfer_1	180	443	7.8e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132896

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137404
AA Change: M518T

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977
AA Change: M518T

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000154668
AA Change: M518T

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: M518T

Domain	Start	End	E-Value	Type
Pfam:HSNSD	20	506	1.7e-253	PFAM
Pfam:Sulfotransfer_1	595	858	8.4e-44	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172537
AA Change: M518T

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: M518T

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199825

Meta Mutation Damage Score

0.7289

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

97% (108/111)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,766,104 (GRCm39)		probably benign	Het
4930562C15Rik	T	A	16: 4,668,803 (GRCm39)	N731K	possibly damaging	Het
Adgra1	A	T	7: 139,432,500 (GRCm39)	K113*	probably null	Het
Adgrl2	T	C	3: 148,544,880 (GRCm39)	I659M	probably damaging	Het
Adm	G	T	7: 110,227,755 (GRCm39)	R41L	probably damaging	Het
Aimp2	T	C	5: 143,843,419 (GRCm39)	E97G	probably benign	Het
Aox1	T	C	1: 58,376,480 (GRCm39)		probably benign	Het
Arhgap20	G	A	9: 51,760,684 (GRCm39)	R809H	probably damaging	Het
Arsa	T	C	15: 89,358,207 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,294,547 (GRCm39)	A88S	probably damaging	Het
Atm	G	A	9: 53,442,922 (GRCm39)		probably benign	Het
Atp1a2	A	T	1: 172,118,842 (GRCm39)	I100N	possibly damaging	Het
Camta2	G	C	11: 70,569,131 (GRCm39)	L605V	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc60	A	G	5: 116,274,440 (GRCm39)	V388A	possibly damaging	Het
Cdk14	C	T	5: 5,185,422 (GRCm39)		probably benign	Het
Cdyl2	C	T	8: 117,350,774 (GRCm39)	G119E	probably benign	Het
Celsr3	A	G	9: 108,704,891 (GRCm39)	N458S	probably damaging	Het
Chd3	A	C	11: 69,238,021 (GRCm39)	H1808Q	probably damaging	Het
Cntnap2	T	C	6: 46,965,694 (GRCm39)	V835A	probably damaging	Het
Col4a1	C	A	8: 11,249,889 (GRCm39)		probably benign	Het
Cpsf1	A	G	15: 76,486,171 (GRCm39)	V357A	probably damaging	Het
Cryzl1	A	G	16: 91,504,107 (GRCm39)		probably benign	Het
Cts8	T	C	13: 61,401,256 (GRCm39)	K90R	possibly damaging	Het
Cux1	A	G	5: 136,315,689 (GRCm39)	V1117A	probably damaging	Het
Dbx1	T	C	7: 49,282,444 (GRCm39)	T254A	probably damaging	Het
Dgki	C	A	6: 36,977,133 (GRCm39)	C659F	probably damaging	Het
Dnajc1	T	G	2: 18,236,612 (GRCm39)	D332A	probably damaging	Het
Dock8	C	A	19: 25,038,524 (GRCm39)	T70K	probably benign	Het
Dsc1	T	A	18: 20,218,919 (GRCm39)	T828S	probably damaging	Het
Dst	T	G	1: 34,232,531 (GRCm39)	V3510G	probably benign	Het
Dst	T	C	1: 34,238,554 (GRCm39)	V1738A	probably damaging	Het
Ehmt2	A	G	17: 35,118,818 (GRCm39)	T167A	probably benign	Het
Eri2	A	T	7: 119,385,640 (GRCm39)	V287E	probably benign	Het
Fat4	T	A	3: 39,054,321 (GRCm39)	L4121H	probably damaging	Het
Fbn1	T	A	2: 125,236,690 (GRCm39)	D330V	possibly damaging	Het
Fign	A	G	2: 63,810,485 (GRCm39)	Y262H	possibly damaging	Het
Fnd3c2	C	T	X: 105,282,763 (GRCm39)	M593I	probably benign	Het
Fndc7	T	A	3: 108,783,931 (GRCm39)	E226V	probably damaging	Het
Gad2	A	T	2: 22,580,348 (GRCm39)	Q583L	probably benign	Het
Gcn1	G	A	5: 115,719,148 (GRCm39)	A334T	probably benign	Het
Ggt1	A	G	10: 75,421,336 (GRCm39)		probably null	Het
Gli2	C	T	1: 118,769,648 (GRCm39)	G635R	possibly damaging	Het
Gm10253	T	C	3: 88,646,420 (GRCm39)	E93G	unknown	Het
Gm10428	A	G	11: 62,644,256 (GRCm39)		probably benign	Het
Gm7104	T	C	12: 88,252,479 (GRCm39)		noncoding transcript	Het
Gm8258	T	G	5: 104,924,385 (GRCm39)		noncoding transcript	Het
Gpr107	A	G	2: 31,104,309 (GRCm39)	N538S	possibly damaging	Het
Hars1	T	C	18: 36,904,442 (GRCm39)	E190G	probably damaging	Het
Hoxc10	C	T	15: 102,875,917 (GRCm39)	P209S	probably benign	Het
Ighg3	T	C	12: 113,323,714 (GRCm39)		probably benign	Het
Igsf10	C	A	3: 59,233,483 (GRCm39)	W1750L	probably damaging	Het
Igsf5	C	A	16: 96,174,023 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,563,615 (GRCm39)		probably benign	Het
Ldhd	T	C	8: 112,353,934 (GRCm39)	K422R	probably benign	Het
Masp1	T	C	16: 23,271,169 (GRCm39)	K693R	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mbd1	T	A	18: 74,409,798 (GRCm39)		probably benign	Het
Mdm4	G	A	1: 132,919,491 (GRCm39)	T459I	possibly damaging	Het
Megf10	A	T	18: 57,421,067 (GRCm39)	I902F	probably benign	Het
Mta3	A	G	17: 84,022,056 (GRCm39)	N37S	probably damaging	Het
Mterf3	T	A	13: 67,060,372 (GRCm39)	Y372F	probably damaging	Het
Nbeal2	A	G	9: 110,465,102 (GRCm39)		probably benign	Het
Nbr1	T	C	11: 101,457,913 (GRCm39)		probably benign	Het
Notch3	C	A	17: 32,366,446 (GRCm39)		probably benign	Het
Npr2	A	T	4: 43,641,219 (GRCm39)	E415V	probably benign	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or4k40	T	C	2: 111,251,191 (GRCm39)	Y35C	probably damaging	Het
Or52h9	G	C	7: 104,202,998 (GRCm39)	V291L	probably benign	Het
Or5be3	A	T	2: 86,863,653 (GRCm39)	M304K	probably benign	Het
Or8b50	T	A	9: 38,518,192 (GRCm39)	F144I	probably benign	Het
Pappa2	T	A	1: 158,660,343 (GRCm39)	D1246V	probably benign	Het
Pcdhgc5	A	T	18: 37,954,931 (GRCm39)	D735V	probably benign	Het
Pik3ca	A	G	3: 32,504,176 (GRCm39)	Y622C	possibly damaging	Het
Plppr2	A	G	9: 21,859,197 (GRCm39)	D438G	probably benign	Het
Ppfibp2	A	T	7: 107,337,806 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,638,907 (GRCm39)	L77Q	probably null	Het
Prdm8	T	C	5: 98,332,380 (GRCm39)	S94P	probably damaging	Het
Prkdc	A	T	16: 15,628,665 (GRCm39)	Q3470L	probably damaging	Het
Prl3c1	T	C	13: 27,384,674 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,688,076 (GRCm39)	H206L	probably benign	Het
Rack1	G	A	11: 48,694,804 (GRCm39)		probably benign	Het
Rere	T	C	4: 150,703,545 (GRCm39)	L1509P	probably damaging	Het
Rgma	T	A	7: 73,067,366 (GRCm39)	L301Q	probably damaging	Het
Rgs6	T	A	12: 83,094,324 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,823,973 (GRCm39)	R1613S	probably damaging	Het
Ripk1	T	G	13: 34,211,764 (GRCm39)	F358C	probably damaging	Het
Robo2	T	C	16: 73,713,093 (GRCm39)	D1217G	probably benign	Het
Shc2	A	T	10: 79,461,975 (GRCm39)	W357R	probably null	Het
Slc25a45	T	C	19: 5,930,556 (GRCm39)	L81P	probably damaging	Het
Slc9c1	A	T	16: 45,363,483 (GRCm39)		probably benign	Het
Spats2	T	C	15: 99,083,909 (GRCm39)		probably null	Het
Stac3	A	T	10: 127,343,632 (GRCm39)	E258V	probably damaging	Het
Thada	A	G	17: 84,536,603 (GRCm39)	S1648P	probably damaging	Het
Tmem168	T	C	6: 13,583,064 (GRCm39)	T222A	probably benign	Het
Tmtc4	T	C	14: 123,163,502 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,260,551 (GRCm39)	S292P	probably damaging	Het
Trim38	T	G	13: 23,975,115 (GRCm39)	Y351*	probably null	Het
Trip12	T	C	1: 84,771,636 (GRCm39)	R213G	possibly damaging	Het
Vav3	C	T	3: 109,331,328 (GRCm39)	R76W	probably damaging	Het
Vmn1r63	G	T	7: 5,806,263 (GRCm39)	P123H	probably damaging	Het
Wdr5	A	G	2: 27,410,619 (GRCm39)	N130S	probably benign	Het
Wnk4	C	A	11: 101,156,212 (GRCm39)	R27S	probably damaging	Het
Ykt6	G	A	11: 5,909,323 (GRCm39)	S44N	probably benign	Het
Ythdc1	T	A	5: 86,957,207 (GRCm39)		probably benign	Het

Other mutations in Ndst3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R1830:Ndst3	UTSW	3	123,342,587 (GRCm39)	missense	probably damaging	0.96
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'- ACTCCTGATTGAATCCATCACCACCT -3'
(R):5'- CTCACTGAACCTTGTCAATAACATACTTCACT -3'

Sequencing Primer
(F):5'- GATCTGATTTTACCTGCCAGAGAG -3'
(R):5'- TCACTGCACAGTAATATAATGACAGC -3'

Posted On

2013-07-11