Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Ndst1'

550737

Institutional Source

Beutler Lab

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

MMRRC Submission

045191-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60817566-60881722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60828572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 661 (F661L)

Ref Sequence

ENSEMBL: ENSMUSP00000126623 (fasta)

Gene Model

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

AlphaFold

Q3UHN9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169273
AA Change: F661L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: F661L

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

Meta Mutation Damage Score

0.1822

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,591,151 (GRCm39)	A26T	probably benign	Het
Acly	T	C	11: 100,383,117 (GRCm39)		probably null	Het
Adam29	A	C	8: 56,324,439 (GRCm39)	L672V	probably benign	Het
Adgrf1	T	C	17: 43,621,493 (GRCm39)	S577P	probably benign	Het
Ankar	T	C	1: 72,682,452 (GRCm39)	K1371R	probably damaging	Het
Arid5b	T	C	10: 67,934,009 (GRCm39)	D631G	probably damaging	Het
Brpf3	T	C	17: 29,025,611 (GRCm39)	V228A	probably benign	Het
C3	T	C	17: 57,513,276 (GRCm39)	D1457G	probably benign	Het
Calr4	A	T	4: 109,099,426 (GRCm39)	N143I	probably benign	Het
Catsperd	T	G	17: 56,935,811 (GRCm39)		probably null	Het
Cobl	T	A	11: 12,246,540 (GRCm39)	H154L		Het
Cryzl2	G	A	1: 157,316,154 (GRCm39)		probably benign	Het
Dennd1c	A	G	17: 57,374,915 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,923,698 (GRCm39)	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,951,225 (GRCm39)	S218P	probably benign	Het
Fbxw27	G	T	9: 109,599,223 (GRCm39)	T398N	probably damaging	Het
Fhod3	A	G	18: 25,223,219 (GRCm39)	D855G	probably benign	Het
Flii	A	G	11: 60,611,481 (GRCm39)	V410A	probably benign	Het
Fsip2	C	A	2: 82,817,968 (GRCm39)	P4567Q	probably benign	Het
Fxyd1	T	G	7: 30,752,458 (GRCm39)	Q66H	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gramd2b	C	T	18: 56,625,017 (GRCm39)	T370I	probably benign	Het
Kdr	A	G	5: 76,104,993 (GRCm39)	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,658,115 (GRCm39)	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,002,176 (GRCm39)	R92G	probably benign	Het
Map1a	T	A	2: 121,130,998 (GRCm39)	S605T	probably benign	Het
Megf8	A	T	7: 25,045,945 (GRCm39)	D1496V	probably damaging	Het
Mgam	T	C	6: 40,638,650 (GRCm39)	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,539,195 (GRCm39)	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,474,506 (GRCm39)		probably null	Het
Neu3	G	A	7: 99,463,027 (GRCm39)	T232M	possibly damaging	Het
Nf1	T	C	11: 79,461,156 (GRCm39)	S741P	probably benign	Het
Nr5a1	G	T	2: 38,584,148 (GRCm39)	L424M	probably damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or4d10c	A	G	19: 12,065,530 (GRCm39)	F209L	possibly damaging	Het
Or4k51	A	T	2: 111,585,421 (GRCm39)	T276S	probably benign	Het
Or6d12	T	A	6: 116,493,721 (GRCm39)	*328R	probably null	Het
Or8g33	G	A	9: 39,337,599 (GRCm39)	T256I	probably benign	Het
Otud7a	A	G	7: 63,407,203 (GRCm39)	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,832 (GRCm39)	L237S	probably damaging	Het
Pias1	A	G	9: 62,788,427 (GRCm39)	M79T		Het
Prom2	T	C	2: 127,381,698 (GRCm39)	E206G	probably benign	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Sdad1	A	G	5: 92,441,832 (GRCm39)	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,725,731 (GRCm39)	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,063,860 (GRCm39)	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,714,030 (GRCm39)	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750 (GRCm38)	H53Q	probably damaging	Het
Spata22	T	C	11: 73,231,225 (GRCm39)	F160L	probably benign	Het
Stag1	G	A	9: 100,826,879 (GRCm39)	V949I	probably benign	Het
Syne1	T	C	10: 5,073,744 (GRCm39)	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,981,520 (GRCm39)	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,607,275 (GRCm39)	M226I	probably benign	Het
Tep1	T	C	14: 51,081,944 (GRCm39)		probably null	Het
Tigd2	C	A	6: 59,187,166 (GRCm39)	T11K	probably damaging	Het
Trappc9	A	G	15: 72,565,468 (GRCm39)	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,388,848 (GRCm39)	M455T	probably benign	Het
Usp42	A	T	5: 143,712,400 (GRCm39)	S95T	probably damaging	Het
Usp44	T	C	10: 93,686,049 (GRCm39)	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,320 (GRCm39)	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,675,540 (GRCm39)	I616N	probably damaging	Het
Zfp352	A	G	4: 90,113,117 (GRCm39)	K419R	probably benign	Het
Zfp595	T	A	13: 67,465,711 (GRCm39)	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,822,161 (GRCm39)	S301T	probably benign	Het
Zzef1	T	C	11: 72,763,475 (GRCm39)	V1374A	possibly damaging	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
IGL03200:Ndst1	APN	18	60,832,611 (GRCm39)	missense	possibly damaging	0.86
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGTAACCAGACAGAGCCC -3'
(R):5'- AATCTGGGATAGGAGACTGCC -3'

Sequencing Primer
(F):5'- ACCTCGGTGACTCAGCC -3'
(R):5'- AAGTGGCAGCTCTTCCCAG -3'

Posted On

2019-05-15