Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Ndst3'

101266

Institutional Source

Beutler Lab

Gene Symbol

Ndst3

Ensembl Gene

ENSMUSG00000027977

Gene Name

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

Synonyms

4930511P15Rik, 4921531K01Rik

MMRRC Submission

039241-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.370) question?

Stock #

R1168 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123526166-123690853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123606968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 15 (V15I)

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

probably benign
Transcript: ENSMUST00000029602
AA Change: V430I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: V430I

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 benign
Transcript: ENSMUST00000124803
AA Change: V15I

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122617
Gene: ENSMUSG00000027977
AA Change: V15I

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 benign
Transcript: ENSMUST00000132112
AA Change: V15I

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120623
Gene: ENSMUSG00000027977
AA Change: V15I

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 benign
Transcript: ENSMUST00000137404
AA Change: V430I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977
AA Change: V430I

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 benign
Transcript: ENSMUST00000154668
AA Change: V430I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: V430I

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 benign
Transcript: ENSMUST00000172537
AA Change: V430I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: V430I

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,900	V950A	probably benign	Het
4930452B06Rik	T	C	14: 8,442,939	N610S	probably benign	Het
Adgrb3	A	T	1: 25,826,199	S188T	probably benign	Het
Ahr	A	T	12: 35,504,532	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,583,837	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,384,631		probably null	Het
Alpk3	A	T	7: 81,103,357	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,273,396	H360Q	probably benign	Het
Cacna1a	A	G	8: 84,579,501	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,832,944	W72R	probably damaging	Het
Ces2e	A	T	8: 104,927,014	D28V	possibly damaging	Het
Cfap45	T	C	1: 172,545,697	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,937,920	C87S	probably damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Chrna4	T	A	2: 181,034,138	M67L	possibly damaging	Het
Cts7	T	A	13: 61,353,817	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,030,454	M94L	probably damaging	Het
Fam83d	C	T	2: 158,768,523	A137V	probably benign	Het
Foxd2	C	T	4: 114,907,678	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,250,246	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,704,469	D856E	probably damaging	Het
Gclm	T	A	3: 122,262,688	H86Q	possibly damaging	Het
Gipc2	T	C	3: 152,107,997	T220A	probably benign	Het
Gm12185	G	T	11: 48,915,355	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,895,364	S61R	probably benign	Het
Gm884	T	C	11: 103,618,950		probably benign	Het
Gorasp2	C	T	2: 70,688,400	P260S	probably damaging	Het
H2-M10.6	A	G	17: 36,813,160	Q172R	probably benign	Het
Ibsp	A	G	5: 104,302,152	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,689,676	Y593C	probably damaging	Het
Itln1	G	T	1: 171,531,551	Y61*	probably null	Het
Kif21a	G	A	15: 90,993,753	T284I	probably damaging	Het
Kif3a	G	A	11: 53,598,312	G621R	probably damaging	Het
Klb	A	G	5: 65,378,974	Y549C	probably damaging	Het
Lman1l	G	A	9: 57,608,312	R427C	probably benign	Het
Map4	T	C	9: 110,034,964	V419A	probably benign	Het
Mastl	A	T	2: 23,133,132	D526E	probably benign	Het
Mrvi1	T	C	7: 110,895,931	K429R	probably damaging	Het
Mtif2	A	G	11: 29,536,914	D308G	probably benign	Het
Ncald	A	G	15: 37,397,334	F34S	probably damaging	Het
Ndc1	A	G	4: 107,395,812	T593A	probably benign	Het
Nup214	A	G	2: 32,025,301	N1166D	probably benign	Het
Olfr1031	A	T	2: 85,992,684	Y289F	probably damaging	Het
Olfr1240	G	A	2: 89,439,869	Q137*	probably null	Het
Olfr1368	A	G	13: 21,142,617	S147P	probably benign	Het
Olfr403	A	G	11: 74,196,421	H306R	probably benign	Het
Pcdhb8	T	C	18: 37,356,727	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,770,271	Y768F	probably benign	Het
Pgf	A	G	12: 85,171,767	S70P	probably benign	Het
Plcl2	G	A	17: 50,607,072	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,862,537	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prag1	A	G	8: 36,146,645	E1117G	probably damaging	Het
Prr12	T	A	7: 45,029,047	Q1919L	unknown	Het
Ret	G	T	6: 118,173,558	H666N	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Robo2	C	T	16: 73,948,296	G864S	probably damaging	Het
Rpa2	T	G	4: 132,771,860	I80S	probably damaging	Het
Ryk	A	T	9: 102,898,475	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,590,278	N30K	probably damaging	Het
Stbd1	A	G	5: 92,604,936	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,292,134	E212G	probably benign	Het
Tex14	A	G	11: 87,536,742	T7A	probably benign	Het
Tmc8	T	C	11: 117,792,563	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,787,019	V730F	probably damaging	Het
Tmub2	G	A	11: 102,287,370	G33D	possibly damaging	Het
Trak1	G	A	9: 121,440,679	D124N	probably damaging	Het
Ttc28	A	T	5: 111,231,111	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,909,369	T3609A	probably benign	Het
Tulp2	A	G	7: 45,517,842	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,465,568		probably null	Het
Ush2a	G	A	1: 188,678,411	V2419I	probably benign	Het
Vill	C	A	9: 119,070,321	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 85,006,854	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,142,219	N800K	probably benign	Het
Wdr93	A	G	7: 79,749,174	K19E	probably damaging	Het
Wrn	A	G	8: 33,316,408	S333P	probably damaging	Het
Zfp418	T	C	7: 7,182,501	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,256,697	E290G	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
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
R8065:Ndst3	UTSW	3	123601445	missense	probably damaging	1.00
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

Posted On

2014-01-15