Mutagenetix > Incidental Mutation

Incidental Mutation 'R8065:Ndst3'

619936

Institutional Source

Beutler Lab

Gene Symbol

Ndst3

Ensembl Gene

ENSMUSG00000027977

Gene Name

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

Synonyms

4930511P15Rik, 4921531K01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R8065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123526166-123690853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123601445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 512 (N512S)

Ref Sequence

ENSEMBL: ENSMUSP00000029602 (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: N512S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: N512S

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: N97S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122617
Gene: ENSMUSG00000027977
AA Change: N97S

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: N97S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120623
Gene: ENSMUSG00000027977
AA Change: N97S

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: ENSMUST00000137404
AA Change: N512S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977
AA Change: N512S

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

probably damaging
Transcript: ENSMUST00000154668
AA Change: N512S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: N512S

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

probably damaging
Transcript: ENSMUST00000172537
AA Change: N512S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: N512S

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

Meta Mutation Damage Score

0.5322

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cap2	T	C	13: 46,637,861	V280A	probably damaging	Het
Cbx7	A	T	15: 79,933,898	V1D	unknown	Het
Chodl	A	T	16: 78,946,713	L229F	probably damaging	Het
Depdc5	C	A	5: 32,895,908	N197K	possibly damaging	Het
Diaph3	A	T	14: 87,037,495	L175Q	probably damaging	Het
Dlat	A	T	9: 50,657,849	M218K	possibly damaging	Het
Dnaic1	T	A	4: 41,614,258	D311E	probably damaging	Het
Dpp10	A	G	1: 123,352,660	S646P	probably benign	Het
Ebf1	G	A	11: 44,620,547	V90M	probably benign	Het
Efhd1	C	T	1: 87,264,591	P48S	probably benign	Het
Fbxl16	G	A	17: 25,817,983	V313I	probably damaging	Het
Flrt2	A	G	12: 95,780,774	T629A	probably benign	Het
Gpr87	T	A	3: 59,179,887	I66F	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Hsd17b4	A	T	18: 50,170,752	I431F	possibly damaging	Het
Iba57	T	C	11: 59,163,260		probably benign	Het
Ibtk	A	C	9: 85,720,863	S696R	probably benign	Het
Igkv11-125	C	A	6: 67,913,830	T44N	probably benign	Het
Itih2	T	A	2: 10,123,483	I136F	probably damaging	Het
Itpr3	T	A	17: 27,110,862	D1543E	probably benign	Het
Ldlr	T	A	9: 21,737,945	C339S	probably damaging	Het
Myh2	G	A	11: 67,181,344	E633K	probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk	A	T	16: 34,972,019	E1570V	probably benign	Het
Myo15b	G	A	11: 115,887,943		probably null	Het
N4bp2	T	A	5: 65,807,296	L896H	probably damaging	Het
Naip2	A	T	13: 100,189,222	S59R	probably damaging	Het
Ndc1	T	A	4: 107,390,398	S468T	probably benign	Het
Olfr1138	T	A	2: 87,737,803	I174F	probably damaging	Het
Olfr65	A	G	7: 103,906,403		probably benign	Het
Plekhn1	T	C	4: 156,228,240	I54V	possibly damaging	Het
Polr3c	T	C	3: 96,715,652	E350G	probably null	Het
Pskh1	T	G	8: 105,929,855	S388A	possibly damaging	Het
Pum1	T	C	4: 130,751,525	V486A	possibly damaging	Het
Rin2	T	G	2: 145,861,057	S558A	probably damaging	Het
Ripk4	A	T	16: 97,763,537	V58D	probably damaging	Het
Slc17a3	A	G	13: 23,858,087	R491G	unknown	Het
Smyd3	A	G	1: 179,410,463	M113T	possibly damaging	Het
Ssh2	A	G	11: 77,441,985	R431G	probably damaging	Het
Timm22	G	A	11: 76,414,105	D190N	probably damaging	Het
Ube2g1	G	A	11: 72,677,765	G103D	probably benign	Het
Zbtb5	A	T	4: 44,994,972	S137R	probably benign	Het
Zfp105	A	G	9: 122,925,129	T8A	probably benign	Het
Zfp286	A	T	11: 62,753,519	I192K	unknown	Het
Zfp942	T	C	17: 21,930,410	Y38C	probably damaging	Het
Zfpm1	T	C	8: 122,335,584	S461P	probably benign	Het

Other mutations in Ndst3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Ndst3	APN	3	123627950	splice site	probably benign
IGL00543:Ndst3	APN	3	123672263	missense	probably damaging	0.99
IGL01067:Ndst3	APN	3	123546817	missense	probably damaging	1.00
IGL01301:Ndst3	APN	3	123548916	missense	probably damaging	0.97
IGL01975:Ndst3	APN	3	123601514	missense	possibly damaging	0.67
IGL02376:Ndst3	APN	3	123556798	missense	probably damaging	0.98
IGL02715:Ndst3	APN	3	123546761	splice site	probably benign
IGL03111:Ndst3	APN	3	123672096	missense	possibly damaging	0.96
Jack_sprat	UTSW	3	123552552	missense	probably damaging	0.99
ANU18:Ndst3	UTSW	3	123548916	missense	probably damaging	0.97
R0027:Ndst3	UTSW	3	123671513	missense	probably damaging	1.00
R0288:Ndst3	UTSW	3	123672194	missense	probably benign	0.03
R0630:Ndst3	UTSW	3	123562071	missense	probably damaging	0.98
R1168:Ndst3	UTSW	3	123606968	missense	probably benign	0.22
R1400:Ndst3	UTSW	3	123556828	missense	probably damaging	1.00
R1513:Ndst3	UTSW	3	123601455	missense	possibly damaging	0.75
R1524:Ndst3	UTSW	3	123548906	missense	possibly damaging	0.94
R1830:Ndst3	UTSW	3	123548938	missense	probably damaging	0.96
R1831:Ndst3	UTSW	3	123601478	missense	probably benign
R1865:Ndst3	UTSW	3	123671471	missense	probably damaging	1.00
R1871:Ndst3	UTSW	3	123562024	missense	probably damaging	1.00
R2041:Ndst3	UTSW	3	123672215	missense	probably benign	0.01
R2056:Ndst3	UTSW	3	123671885	missense	probably damaging	0.98
R2362:Ndst3	UTSW	3	123552678	missense	possibly damaging	0.94
R2484:Ndst3	UTSW	3	123552537	missense	possibly damaging	0.83
R3747:Ndst3	UTSW	3	123671552	missense	probably benign	0.09
R4152:Ndst3	UTSW	3	123672227	missense	probably damaging	1.00
R4153:Ndst3	UTSW	3	123672227	missense	probably damaging	1.00
R4154:Ndst3	UTSW	3	123672227	missense	probably damaging	1.00
R4512:Ndst3	UTSW	3	123671666	missense	probably damaging	1.00
R4579:Ndst3	UTSW	3	123546825	missense	probably benign	0.00
R4611:Ndst3	UTSW	3	123671549	missense	probably benign	0.35
R4646:Ndst3	UTSW	3	123672035	missense	probably damaging	0.96
R4718:Ndst3	UTSW	3	123672266	missense	probably benign	0.35
R4944:Ndst3	UTSW	3	123607027	missense	probably damaging	0.99
R4945:Ndst3	UTSW	3	123552552	missense	probably damaging	1.00
R5179:Ndst3	UTSW	3	123552532	missense	probably damaging	0.97
R5232:Ndst3	UTSW	3	123672239	missense	probably damaging	0.99
R5421:Ndst3	UTSW	3	123634359	splice site	probably null
R5874:Ndst3	UTSW	3	123561907	missense	probably damaging	1.00
R6030:Ndst3	UTSW	3	123552519	missense	probably damaging	1.00
R6030:Ndst3	UTSW	3	123552519	missense	probably damaging	1.00
R6228:Ndst3	UTSW	3	123671652	nonsense	probably null
R6496:Ndst3	UTSW	3	123552552	missense	probably damaging	0.99
R6562:Ndst3	UTSW	3	123552532	missense	probably damaging	0.97
R7045:Ndst3	UTSW	3	123672083	missense	probably damaging	0.96
R7152:Ndst3	UTSW	3	123552656	missense	possibly damaging	0.66
R7202:Ndst3	UTSW	3	123671739	missense	possibly damaging	0.94
R7239:Ndst3	UTSW	3	123606906	missense	probably damaging	1.00
R7305:Ndst3	UTSW	3	123601482	missense	possibly damaging	0.62
R7417:Ndst3	UTSW	3	123671664	missense	probably damaging	1.00
R7469:Ndst3	UTSW	3	123671661	missense	possibly damaging	0.82
R7553:Ndst3	UTSW	3	123557060	splice site	probably null
R7955:Ndst3	UTSW	3	123606937	missense	probably benign	0.01
R8067:Ndst3	UTSW	3	123601445	missense	probably damaging	1.00
R8363:Ndst3	UTSW	3	123556868	missense	possibly damaging	0.83
R8708:Ndst3	UTSW	3	123528915	missense	probably benign	0.01
R8752:Ndst3	UTSW	3	123549035	missense	probably damaging	1.00
R9051:Ndst3	UTSW	3	123671900	missense	probably benign	0.00
R9428:Ndst3	UTSW	3	123546869	missense	probably benign	0.00
R9511:Ndst3	UTSW	3	123606906	missense	probably damaging	1.00
R9537:Ndst3	UTSW	3	123671513	missense
R9662:Ndst3	UTSW	3	123671466	missense	probably benign	0.01
R9667:Ndst3	UTSW	3	123560217	missense	possibly damaging	0.67
R9747:Ndst3	UTSW	3	123546812	missense	possibly damaging	0.84
R9748:Ndst3	UTSW	3	123627982	missense	probably benign	0.17
Z1176:Ndst3	UTSW	3	123552630	missense	probably damaging	1.00
Z1176:Ndst3	UTSW	3	123627969	missense	possibly damaging	0.49
Z1176:Ndst3	UTSW	3	123671494	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATCTGTGCTGAGTGAGGAG -3'
(R):5'- CATGGGGAAAACAAGTTAAGATTGCA -3'

Sequencing Primer
(F):5'- GCGATGGGCCAGAGGAC -3'
(R):5'- TGCATGATGGAAACCAGAACTTTCC -3'

Posted On

2020-01-23