Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03200:Ndst1'

412952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndst1

Ensembl Gene

ENSMUSG00000054008

Gene Name

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

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03200

Quality Score

Status

Chromosome

Chromosomal Location

60817566-60881722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60832611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 573 (I573N)

Ref Sequence

ENSEMBL: ENSMUSP00000126623 (fasta)

Gene Model

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

AlphaFold

Q3UHN9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169273
AA Change: I573N

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: I573N

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,928,989 (GRCm39)		probably benign	Het
Degs1	A	T	1: 182,107,256 (GRCm39)	M1K	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
H2-M10.6	G	A	17: 37,124,908 (GRCm39)	G275E	probably damaging	Het
Itga8	C	T	2: 12,196,010 (GRCm39)	V647I	probably benign	Het
Kcnip2	T	G	19: 45,782,502 (GRCm39)	K190Q	probably damaging	Het
Mbd1	T	G	18: 74,409,502 (GRCm39)	S251A	probably benign	Het
Mcpt9	T	A	14: 56,264,390 (GRCm39)	H235L	probably benign	Het
Ntan1	C	T	16: 13,652,591 (GRCm39)	P229L	probably damaging	Het
Rbl2	T	C	8: 91,823,395 (GRCm39)	I441T	probably benign	Het
Spmap2l	T	A	5: 77,208,711 (GRCm39)	V413D	possibly damaging	Het
Sulf1	C	T	1: 12,856,841 (GRCm39)	R31*	probably null	Het
Taok1	G	A	11: 77,466,478 (GRCm39)	Q124*	probably null	Het
Tmem140	A	G	6: 34,849,814 (GRCm39)	E110G	possibly damaging	Het
U2surp	G	A	9: 95,373,444 (GRCm39)	R242*	probably null	Het
Ywhag	G	A	5: 135,939,914 (GRCm39)	R227*	probably null	Het
Zfp456	C	T	13: 67,514,596 (GRCm39)	R370H	probably benign	Het

Other mutations in Ndst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ndst1	APN	18	60,841,028 (GRCm39)	missense	probably damaging	1.00
IGL01410:Ndst1	APN	18	60,833,517 (GRCm39)	missense	probably damaging	1.00
IGL01578:Ndst1	APN	18	60,846,198 (GRCm39)	missense	probably damaging	1.00
IGL02133:Ndst1	APN	18	60,832,618 (GRCm39)	missense	probably benign	0.05
R0631:Ndst1	UTSW	18	60,833,431 (GRCm39)	splice site	probably benign
R0899:Ndst1	UTSW	18	60,840,954 (GRCm39)	missense	probably benign	0.00
R1104:Ndst1	UTSW	18	60,830,218 (GRCm39)	missense	probably damaging	0.98
R1371:Ndst1	UTSW	18	60,840,719 (GRCm39)	missense	possibly damaging	0.90
R1456:Ndst1	UTSW	18	60,846,277 (GRCm39)	missense	possibly damaging	0.73
R1511:Ndst1	UTSW	18	60,830,242 (GRCm39)	missense	possibly damaging	0.61
R1524:Ndst1	UTSW	18	60,831,576 (GRCm39)	missense	probably damaging	0.99
R1699:Ndst1	UTSW	18	60,828,580 (GRCm39)	missense	probably damaging	1.00
R1718:Ndst1	UTSW	18	60,840,875 (GRCm39)	missense	probably damaging	0.99
R1772:Ndst1	UTSW	18	60,835,909 (GRCm39)	missense	probably damaging	0.99
R1900:Ndst1	UTSW	18	60,845,793 (GRCm39)	critical splice donor site	probably null
R2079:Ndst1	UTSW	18	60,828,581 (GRCm39)	missense	probably damaging	1.00
R2105:Ndst1	UTSW	18	60,824,325 (GRCm39)	missense	probably benign	0.01
R2127:Ndst1	UTSW	18	60,824,280 (GRCm39)	missense	probably benign	0.00
R2875:Ndst1	UTSW	18	60,823,119 (GRCm39)	missense	probably damaging	1.00
R3798:Ndst1	UTSW	18	60,846,238 (GRCm39)	missense	possibly damaging	0.94
R3950:Ndst1	UTSW	18	60,830,211 (GRCm39)	missense	probably benign	0.12
R3951:Ndst1	UTSW	18	60,830,211 (GRCm39)	missense	probably benign	0.12
R3952:Ndst1	UTSW	18	60,830,211 (GRCm39)	missense	probably benign	0.12
R4868:Ndst1	UTSW	18	60,828,548 (GRCm39)	missense	probably benign	0.07
R4898:Ndst1	UTSW	18	60,825,059 (GRCm39)	missense	probably benign	0.12
R4988:Ndst1	UTSW	18	60,836,005 (GRCm39)	missense	probably damaging	0.99
R5271:Ndst1	UTSW	18	60,838,204 (GRCm39)	missense	probably benign	0.03
R5337:Ndst1	UTSW	18	60,823,079 (GRCm39)	missense	probably damaging	1.00
R5467:Ndst1	UTSW	18	60,825,093 (GRCm39)	missense	probably benign
R5830:Ndst1	UTSW	18	60,836,910 (GRCm39)	missense	probably damaging	1.00
R5968:Ndst1	UTSW	18	60,846,148 (GRCm39)	missense	probably benign
R6241:Ndst1	UTSW	18	60,836,901 (GRCm39)	missense	probably damaging	0.99
R6422:Ndst1	UTSW	18	60,836,025 (GRCm39)	missense	probably benign	0.44
R7099:Ndst1	UTSW	18	60,828,572 (GRCm39)	missense	possibly damaging	0.88
R7544:Ndst1	UTSW	18	60,830,256 (GRCm39)	missense	probably damaging	1.00
R8918:Ndst1	UTSW	18	60,825,083 (GRCm39)	missense	probably benign	0.00
R8951:Ndst1	UTSW	18	60,830,196 (GRCm39)	missense	probably benign
R9187:Ndst1	UTSW	18	60,824,268 (GRCm39)	missense	probably benign	0.03
R9374:Ndst1	UTSW	18	60,845,931 (GRCm39)	missense	probably damaging	0.97
R9526:Ndst1	UTSW	18	60,838,220 (GRCm39)	nonsense	probably null
R9552:Ndst1	UTSW	18	60,845,931 (GRCm39)	missense	probably damaging	0.97
R9651:Ndst1	UTSW	18	60,833,539 (GRCm39)	missense	probably damaging	0.96
V8831:Ndst1	UTSW	18	60,835,999 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02