Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01410:Ndst1'

79983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndst1

Ensembl Gene

ENSMUSG00000054008

Gene Name

N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1

Synonyms

glucosaminyl N-deacetylase/N-sulfotransferase 1, b2b2230Clo, Hsst, Ndst-1, 1200015G06Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01410

Quality Score

Status

Chromosome

Chromosomal Location

60685978-60713389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60700445 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 498 (Y498C)

Ref Sequence

ENSEMBL: ENSMUSP00000126623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169273]

Predicted Effect

probably damaging
Transcript: ENSMUST00000169273
AA Change: Y498C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: Y498C

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

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. 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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	A	1: 58,106,025		probably null	Het
Aspm	C	T	1: 139,482,444	T1359I	probably benign	Het
Atp13a2	A	G	4: 140,992,198	D26G	probably benign	Het
Atrnl1	G	A	19: 58,131,104	A1343T	probably damaging	Het
Ccsap	A	C	8: 123,859,230	S61A	probably damaging	Het
Cdh1	A	T	8: 106,657,853	M318L	probably benign	Het
Cfap69	G	A	5: 5,646,979	P106S	probably damaging	Het
Cfp	G	A	X: 20,929,724	T88I	probably damaging	Het
Chst1	A	T	2: 92,614,130	I316F	probably damaging	Het
Col7a1	A	T	9: 108,964,618	D1382V	unknown	Het
Cr2	T	A	1: 195,163,234	M514L	possibly damaging	Het
Cubn	G	A	2: 13,465,908	H558Y	probably benign	Het
Cul9	A	T	17: 46,528,646	M802K	probably damaging	Het
Dennd2d	A	T	3: 106,491,226	I169L	probably damaging	Het
Dnah11	T	A	12: 118,047,256	K162*	probably null	Het
Dnah3	T	A	7: 119,967,720	T2428S	possibly damaging	Het
Dock11	T	A	X: 36,037,643	H1284Q	probably damaging	Het
Flrt2	T	A	12: 95,779,192	D101E	probably damaging	Het
Gabrr2	G	A	4: 33,085,626	V349M	probably damaging	Het
Gli2	C	A	1: 118,836,891	V1177L	probably benign	Het
Gm16506	A	G	14: 43,724,173	Y206H	probably benign	Het
Gm1966	C	T	7: 106,603,051		noncoding transcript	Het
Gm5612	C	T	9: 18,427,573		probably benign	Het
Heg1	C	T	16: 33,725,566	T460I	possibly damaging	Het
Lgals9	T	G	11: 78,973,151	D56A	probably damaging	Het
Lpgat1	A	T	1: 191,776,432		probably null	Het
Megf6	T	A	4: 154,252,563		probably null	Het
Megf8	G	A	7: 25,359,871	M2265I	probably benign	Het
Memo1	G	A	17: 74,241,981	R121*	probably null	Het
Morc1	T	C	16: 48,612,314	V715A	probably benign	Het
Mycbp2	A	T	14: 103,229,492		probably null	Het
Ncapg2	T	A	12: 116,424,650	V318D	possibly damaging	Het
Nod1	C	T	6: 54,944,356	A326T	probably damaging	Het
Olfr1206	T	A	2: 88,865,520	M305K	probably benign	Het
Olfr697	A	G	7: 106,741,499	V145A	probably benign	Het
Peg3	T	C	7: 6,707,625	S1533G	probably benign	Het
Pgc	G	T	17: 47,734,240	G361V	probably damaging	Het
Phka1	C	T	X: 102,586,106	R477H	probably damaging	Het
Plagl2	C	T	2: 153,232,654	R109Q	probably damaging	Het
Prr36	T	A	8: 4,216,230	I107F	probably benign	Het
Ptpdc1	T	A	13: 48,586,604	R450S	probably damaging	Het
Ptprb	A	T	10: 116,302,274	D361V	possibly damaging	Het
Rbm44	A	G	1: 91,168,829	D970G	probably benign	Het
Scrn2	T	G	11: 97,030,570	V52G	probably benign	Het
Sdk1	C	T	5: 142,212,120	T2176I	probably benign	Het
Serpina1d	T	A	12: 103,763,734	E396D	probably benign	Het
Slc38a5	A	C	X: 8,279,831	Q465P	probably benign	Het
Slc38a5	G	T	X: 8,279,832	Q465H	probably benign	Het
Smarca1	T	C	X: 47,892,378	T48A	possibly damaging	Het
Trak2	A	T	1: 58,923,607	I132N	probably damaging	Het
Trank1	T	C	9: 111,365,259	S784P	probably benign	Het
Trank1	A	G	9: 111,365,049	T714A	probably benign	Het
Trp53i13	G	A	11: 77,508,257		probably benign	Het
Trrap	A	C	5: 144,831,021	D2596A	probably benign	Het
Ttyh1	A	T	7: 4,124,657	T19S	probably damaging	Het
Tyk2	C	T	9: 21,109,364	V947M	probably damaging	Het
Ugt2b34	G	A	5: 86,892,830	A411V	possibly damaging	Het
Virma	T	A	4: 11,518,929	Y725*	probably null	Het
Vmn1r192	A	G	13: 22,187,909	L47P	probably damaging	Het
Vmn2r74	T	C	7: 85,961,292	D64G	possibly damaging	Het

Other mutations in Ndst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ndst1	APN	18	60707956	missense	probably damaging	1.00
IGL01578:Ndst1	APN	18	60713126	missense	probably damaging	1.00
IGL02133:Ndst1	APN	18	60699546	missense	probably benign	0.05
IGL03200:Ndst1	APN	18	60699539	missense	possibly damaging	0.86
R0631:Ndst1	UTSW	18	60700359	splice site	probably benign
R0899:Ndst1	UTSW	18	60707882	missense	probably benign	0.00
R1104:Ndst1	UTSW	18	60697146	missense	probably damaging	0.98
R1371:Ndst1	UTSW	18	60707647	missense	possibly damaging	0.90
R1456:Ndst1	UTSW	18	60713205	missense	possibly damaging	0.73
R1511:Ndst1	UTSW	18	60697170	missense	possibly damaging	0.61
R1524:Ndst1	UTSW	18	60698504	missense	probably damaging	0.99
R1699:Ndst1	UTSW	18	60695508	missense	probably damaging	1.00
R1718:Ndst1	UTSW	18	60707803	missense	probably damaging	0.99
R1772:Ndst1	UTSW	18	60702837	missense	probably damaging	0.99
R1900:Ndst1	UTSW	18	60712721	critical splice donor site	probably null
R2079:Ndst1	UTSW	18	60695509	missense	probably damaging	1.00
R2105:Ndst1	UTSW	18	60691253	missense	probably benign	0.01
R2127:Ndst1	UTSW	18	60691208	missense	probably benign	0.00
R2875:Ndst1	UTSW	18	60690047	missense	probably damaging	1.00
R3798:Ndst1	UTSW	18	60713166	missense	possibly damaging	0.94
R3950:Ndst1	UTSW	18	60697139	missense	probably benign	0.12
R3951:Ndst1	UTSW	18	60697139	missense	probably benign	0.12
R3952:Ndst1	UTSW	18	60697139	missense	probably benign	0.12
R4868:Ndst1	UTSW	18	60695476	missense	probably benign	0.07
R4898:Ndst1	UTSW	18	60691987	missense	probably benign	0.12
R4988:Ndst1	UTSW	18	60702933	missense	probably damaging	0.99
R5271:Ndst1	UTSW	18	60705132	missense	probably benign	0.03
R5337:Ndst1	UTSW	18	60690007	missense	probably damaging	1.00
R5467:Ndst1	UTSW	18	60692021	missense	probably benign
R5830:Ndst1	UTSW	18	60703838	missense	probably damaging	1.00
R5968:Ndst1	UTSW	18	60713076	missense	probably benign
R6241:Ndst1	UTSW	18	60703829	missense	probably damaging	0.99
R6422:Ndst1	UTSW	18	60702953	missense	probably benign	0.44
R7099:Ndst1	UTSW	18	60695500	missense	possibly damaging	0.88
R7544:Ndst1	UTSW	18	60697184	missense	probably damaging	1.00
V8831:Ndst1	UTSW	18	60702927	missense	probably damaging	1.00

Posted On

2013-11-05