Mutagenetix > Incidental Mutation

Incidental Mutation 'R1900:Ndst4'

214167

Institutional Source

Beutler Lab

Gene Symbol

Ndst4

Ensembl Gene

ENSMUSG00000027971

Gene Name

N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4

Synonyms

4930439H17Rik

MMRRC Submission

039920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1900 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125197725-125522548 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 125491544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173932] [ENSMUST00000174648]

AlphaFold

Q9EQW8

Predicted Effect

probably benign
Transcript: ENSMUST00000143461

Predicted Effect

probably null
Transcript: ENSMUST00000173932

SMART Domains

Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971

Domain	Start	End	E-Value	Type
Pfam:HSNSD	20	505	1.2e-251	PFAM
Pfam:Sulfotransfer_1	594	857	1.2e-43	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000174648

SMART Domains

Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	86	349	6.6e-44	PFAM

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

96% (100/104)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a phenotype restricted to the colonic epithelium that includes an increased number of colon goblet cells, a decreased number of colonocytes, and increased apoptosis of colonic epithelial cells in the proximal colon. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	C	2: 32,630,559 (GRCm39)		probably benign	Het
Ago4	T	C	4: 126,410,729 (GRCm39)	I221V	probably benign	Het
Ankfy1	C	T	11: 72,645,233 (GRCm39)	Q771*	probably null	Het
Ankrd50	T	C	3: 38,509,536 (GRCm39)	T944A	probably damaging	Het
Armh4	T	C	14: 50,008,040 (GRCm39)	T478A	probably damaging	Het
AU040320	A	C	4: 126,747,073 (GRCm39)		probably null	Het
Axdnd1	A	G	1: 156,208,344 (GRCm39)		probably null	Het
Cdadc1	A	T	14: 59,823,981 (GRCm39)	D170E	probably damaging	Het
Cep164	C	A	9: 45,721,123 (GRCm39)	R93L	probably damaging	Het
Cep250	T	C	2: 155,827,294 (GRCm39)		probably null	Het
Cfdp1	G	A	8: 112,495,361 (GRCm39)	R286*	probably null	Het
Chrdl2	A	G	7: 99,682,871 (GRCm39)	I377V	possibly damaging	Het
Cntrob	A	T	11: 69,198,880 (GRCm39)	S623T	probably benign	Het
Col6a5	C	T	9: 105,808,412 (GRCm39)	G879S	unknown	Het
Cyp2c38	T	A	19: 39,426,756 (GRCm39)	I182F	probably benign	Het
Dennd4a	T	C	9: 64,804,618 (GRCm39)	V1319A	probably damaging	Het
Dysf	T	G	6: 84,016,549 (GRCm39)	V70G	probably damaging	Het
Edn3	A	G	2: 174,603,398 (GRCm39)	T49A	possibly damaging	Het
Elac1	C	G	18: 73,872,316 (GRCm39)	L226F	probably damaging	Het
Eps8l3	A	G	3: 107,798,268 (GRCm39)	D445G	probably benign	Het
Fgf11	G	T	11: 69,692,279 (GRCm39)	T58K	probably benign	Het
Fstl5	T	A	3: 76,615,467 (GRCm39)	W843R	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gal3st2c	G	A	1: 93,936,766 (GRCm39)	R237H	probably damaging	Het
Galnt15	G	T	14: 31,771,822 (GRCm39)	R289L	probably damaging	Het
Garin4	T	A	1: 190,896,631 (GRCm39)	K4M	possibly damaging	Het
Gdf5	T	A	2: 155,784,001 (GRCm39)	D317V	probably damaging	Het
Gm7808	A	G	9: 19,839,410 (GRCm39)		probably benign	Het
Hcn3	T	C	3: 89,055,570 (GRCm39)	E559G	probably benign	Het
Hdlbp	A	T	1: 93,349,959 (GRCm39)		probably benign	Het
Hhip	T	C	8: 80,701,675 (GRCm39)	T620A	probably benign	Het
Hs3st3a1	T	C	11: 64,411,268 (GRCm39)	S269P	probably damaging	Het
Il17ra	A	T	6: 120,454,355 (GRCm39)		probably null	Het
Kif2a	T	C	13: 107,113,503 (GRCm39)	N417S	possibly damaging	Het
Klhl41	T	A	2: 69,504,963 (GRCm39)		probably benign	Het
L3mbtl4	G	T	17: 68,766,800 (GRCm39)	C169F	probably damaging	Het
Lap3	T	C	5: 45,669,252 (GRCm39)	F467S	probably damaging	Het
Lpar6	A	T	14: 73,476,579 (GRCm39)	Y180F	probably benign	Het
Lrig3	T	C	10: 125,838,262 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,877,432 (GRCm39)	S378T	probably damaging	Het
Ltf	T	C	9: 110,851,913 (GRCm39)	F117L	possibly damaging	Het
Med16	T	C	10: 79,734,765 (GRCm39)	E533G	probably damaging	Het
Meltf	T	C	16: 31,700,787 (GRCm39)		probably null	Het
Mphosph10	C	T	7: 64,030,776 (GRCm39)	E488K	possibly damaging	Het
Mroh1	A	G	15: 76,317,585 (GRCm39)	T812A	probably benign	Het
Mto1	T	C	9: 78,368,799 (GRCm39)		probably benign	Het
Ndst1	A	T	18: 60,845,793 (GRCm39)		probably null	Het
Nhlh1	A	T	1: 171,881,608 (GRCm39)	I86N	probably damaging	Het
Nme9	A	C	9: 99,341,827 (GRCm39)	D59A	probably damaging	Het
Nox4	A	T	7: 87,010,004 (GRCm39)	R402*	probably null	Het
Npr1	T	C	3: 90,369,495 (GRCm39)	D410G	probably damaging	Het
Nrip1	T	A	16: 76,088,927 (GRCm39)	T877S	probably benign	Het
Nsd2	A	G	5: 34,003,513 (GRCm39)	N221S	probably benign	Het
Ophn1	A	T	X: 97,769,665 (GRCm39)	Y181*	probably null	Het
Or13a28	A	T	7: 140,218,505 (GRCm39)	D297V	probably damaging	Het
Or1e17	C	A	11: 73,831,486 (GRCm39)	P138Q	possibly damaging	Het
Or4c123	T	C	2: 89,127,014 (GRCm39)	N200S	probably damaging	Het
Or51ac3	A	T	7: 103,213,814 (GRCm39)	L224*	probably null	Het
Or51f5	A	T	7: 102,424,538 (GRCm39)	H269L	probably benign	Het
Or5b109	T	A	19: 13,212,277 (GRCm39)	I221K	possibly damaging	Het
Or8c10	A	T	9: 38,279,360 (GRCm39)	I173L	probably benign	Het
Parp1	A	G	1: 180,424,904 (GRCm39)	K819R	probably damaging	Het
Parp9	T	C	16: 35,792,591 (GRCm39)	S829P	probably benign	Het
Pde6c	T	A	19: 38,150,388 (GRCm39)	F511Y	probably damaging	Het
Per3	G	T	4: 151,125,883 (GRCm39)	H145Q	probably damaging	Het
Pglyrp1	C	T	7: 18,624,151 (GRCm39)	R145W	probably damaging	Het
Piezo1	T	C	8: 123,209,384 (GRCm39)		probably benign	Het
Plb1	T	C	5: 32,444,191 (GRCm39)	I312T	probably benign	Het
Plin3	T	A	17: 56,586,824 (GRCm39)	T408S	possibly damaging	Het
Polr2a	A	T	11: 69,634,772 (GRCm39)	I636N	probably damaging	Het
Pramel51	A	C	12: 88,144,030 (GRCm39)	L261R	probably benign	Het
Prb1b	A	T	6: 132,291,661 (GRCm39)	L11Q	unknown	Het
Prex2	G	T	1: 11,232,590 (GRCm39)	E886*	probably null	Het
Proca1	A	T	11: 78,095,847 (GRCm39)	I73F	probably damaging	Het
Ptpn6	A	G	6: 124,705,896 (GRCm39)	S83P	probably benign	Het
Rtp1	G	T	16: 23,248,049 (GRCm39)	V41L	probably benign	Het
Scn4a	A	G	11: 106,218,359 (GRCm39)	I1035T	probably damaging	Het
Sell	A	T	1: 163,892,907 (GRCm39)	Y41F	probably damaging	Het
Serping1	C	T	2: 84,601,793 (GRCm39)	V226M	probably damaging	Het
Sf3b1	A	T	1: 55,037,347 (GRCm39)	D856E	possibly damaging	Het
Sfmbt1	T	A	14: 30,524,524 (GRCm39)	Y503N	probably damaging	Het
Slc16a1	T	A	3: 104,560,880 (GRCm39)	V395D	probably damaging	Het
Slc22a7	A	T	17: 46,749,157 (GRCm39)	D53E	probably benign	Het
Slc35b3	A	G	13: 39,144,587 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,815 (GRCm39)	M274T	possibly damaging	Het
Slco1a5	A	G	6: 142,187,789 (GRCm39)	S517P	probably benign	Het
Smo	A	G	6: 29,736,055 (GRCm39)	R16G	unknown	Het
Srebf1	A	G	11: 60,094,312 (GRCm39)	L601P	probably damaging	Het
Sspo	A	G	6: 48,436,284 (GRCm39)	I1086M	probably benign	Het
Tas2r106	A	T	6: 131,655,373 (GRCm39)	N159K	probably damaging	Het
Thsd1	G	A	8: 22,742,334 (GRCm39)		probably benign	Het
Tmeff1	T	C	4: 48,658,938 (GRCm39)		probably benign	Het
Tmem140	G	A	6: 34,849,838 (GRCm39)	C118Y	possibly damaging	Het
Tmem168	A	G	6: 13,583,070 (GRCm39)	C220R	probably benign	Het
Tox2	A	T	2: 163,118,087 (GRCm39)	N129Y	probably damaging	Het
Trappc12	C	T	12: 28,796,984 (GRCm39)	E183K	probably damaging	Het
Unc50	A	G	1: 37,477,880 (GRCm39)	Y254C	probably damaging	Het
Unk	T	G	11: 115,949,907 (GRCm39)	D691E	probably benign	Het
Uox	T	A	3: 146,316,134 (GRCm39)	V23D	probably damaging	Het
Vps13d	A	G	4: 144,853,176 (GRCm39)	C2313R	probably benign	Het
Zfp804b	T	A	5: 6,819,283 (GRCm39)	H1260L	probably damaging	Het
Zfyve26	A	G	12: 79,311,125 (GRCm39)	L147P	probably damaging	Het
Zmynd10	A	T	9: 107,427,236 (GRCm39)	Q288L	probably benign	Het
Zzef1	T	A	11: 72,739,540 (GRCm39)	D662E	probably damaging	Het

Other mutations in Ndst4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00920:Ndst4	APN	3	125,231,860 (GRCm39)	missense	probably damaging	0.98
IGL00926:Ndst4	APN	3	125,355,102 (GRCm39)	missense	probably benign	0.01
IGL01292:Ndst4	APN	3	125,232,403 (GRCm39)	missense	probably damaging	1.00
IGL01797:Ndst4	APN	3	125,476,802 (GRCm39)	missense	probably damaging	0.99
R0004:Ndst4	UTSW	3	125,364,475 (GRCm39)	missense	probably benign	0.03
R0118:Ndst4	UTSW	3	125,405,210 (GRCm39)	nonsense	probably null
R0652:Ndst4	UTSW	3	125,405,188 (GRCm39)	missense	possibly damaging	0.93
R1437:Ndst4	UTSW	3	125,355,099 (GRCm39)	missense	probably damaging	0.97
R1502:Ndst4	UTSW	3	125,231,407 (GRCm39)	start gained	probably benign
R1960:Ndst4	UTSW	3	125,232,331 (GRCm39)	nonsense	probably null
R2249:Ndst4	UTSW	3	125,231,823 (GRCm39)	missense	probably benign	0.16
R2334:Ndst4	UTSW	3	125,501,825 (GRCm39)	missense	possibly damaging	0.86
R2345:Ndst4	UTSW	3	125,501,769 (GRCm39)	missense	possibly damaging	0.95
R3617:Ndst4	UTSW	3	125,231,782 (GRCm39)	missense	probably benign	0.00
R3713:Ndst4	UTSW	3	125,355,154 (GRCm39)	missense	possibly damaging	0.93
R3715:Ndst4	UTSW	3	125,355,154 (GRCm39)	missense	possibly damaging	0.93
R3954:Ndst4	UTSW	3	125,231,554 (GRCm39)	missense	probably benign	0.01
R4013:Ndst4	UTSW	3	125,476,819 (GRCm39)	missense	probably damaging	1.00
R4035:Ndst4	UTSW	3	125,232,385 (GRCm39)	missense	probably damaging	1.00
R4085:Ndst4	UTSW	3	125,403,131 (GRCm39)	missense	probably benign
R4496:Ndst4	UTSW	3	125,476,922 (GRCm39)	missense	probably damaging	1.00
R4498:Ndst4	UTSW	3	125,232,007 (GRCm39)	missense	probably damaging	1.00
R5187:Ndst4	UTSW	3	125,231,560 (GRCm39)	missense	probably damaging	0.98
R5233:Ndst4	UTSW	3	125,503,766 (GRCm39)	missense	probably damaging	1.00
R5518:Ndst4	UTSW	3	125,232,105 (GRCm39)	missense	probably benign
R5575:Ndst4	UTSW	3	125,231,479 (GRCm39)	missense	probably benign	0.41
R5687:Ndst4	UTSW	3	125,232,258 (GRCm39)	missense	possibly damaging	0.79
R5940:Ndst4	UTSW	3	125,355,068 (GRCm39)	splice site	probably benign
R6027:Ndst4	UTSW	3	125,507,025 (GRCm39)	missense	probably benign	0.38
R6406:Ndst4	UTSW	3	125,232,150 (GRCm39)	missense	probably benign
R6540:Ndst4	UTSW	3	125,515,801 (GRCm39)	nonsense	probably null
R6941:Ndst4	UTSW	3	125,403,160 (GRCm39)	missense	possibly damaging	0.93
R7108:Ndst4	UTSW	3	125,355,120 (GRCm39)	missense	probably damaging	0.96
R7269:Ndst4	UTSW	3	125,232,007 (GRCm39)	missense	probably damaging	1.00
R7278:Ndst4	UTSW	3	125,231,952 (GRCm39)	missense	probably benign	0.00
R7345:Ndst4	UTSW	3	125,508,308 (GRCm39)	missense	probably benign	0.07
R7405:Ndst4	UTSW	3	125,476,865 (GRCm39)	missense	probably benign
R7418:Ndst4	UTSW	3	125,501,800 (GRCm39)	missense	probably damaging	0.99
R7592:Ndst4	UTSW	3	125,364,436 (GRCm39)	missense	probably damaging	0.99
R7714:Ndst4	UTSW	3	125,364,493 (GRCm39)	missense	probably benign	0.08
R7955:Ndst4	UTSW	3	125,231,831 (GRCm39)	nonsense	probably null
R8070:Ndst4	UTSW	3	125,508,293 (GRCm39)	missense	probably damaging	1.00
R8412:Ndst4	UTSW	3	125,364,439 (GRCm39)	missense	possibly damaging	0.76
R8553:Ndst4	UTSW	3	125,503,756 (GRCm39)	missense	probably damaging	1.00
R8744:Ndst4	UTSW	3	125,506,989 (GRCm39)	missense	possibly damaging	0.94
R8933:Ndst4	UTSW	3	125,405,155 (GRCm39)	missense	probably damaging	0.99
R8940:Ndst4	UTSW	3	125,474,802 (GRCm39)	start gained	probably benign
R8984:Ndst4	UTSW	3	125,515,810 (GRCm39)	missense	probably damaging	1.00
R9147:Ndst4	UTSW	3	125,231,722 (GRCm39)	missense	probably damaging	1.00
R9148:Ndst4	UTSW	3	125,231,722 (GRCm39)	missense	probably damaging	1.00
R9194:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9196:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9202:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9203:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9217:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9311:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9355:Ndst4	UTSW	3	125,403,246 (GRCm39)	missense	probably damaging	1.00
R9402:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9415:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9475:Ndst4	UTSW	3	125,508,296 (GRCm39)	nonsense	probably null
R9544:Ndst4	UTSW	3	125,476,808 (GRCm39)	missense	probably damaging	1.00
R9588:Ndst4	UTSW	3	125,476,808 (GRCm39)	missense	probably damaging	1.00
R9626:Ndst4	UTSW	3	125,476,829 (GRCm39)	missense	probably damaging	1.00
R9640:Ndst4	UTSW	3	125,232,196 (GRCm39)	missense	probably damaging	0.99
R9691:Ndst4	UTSW	3	125,518,344 (GRCm39)	missense	unknown
R9716:Ndst4	UTSW	3	125,232,211 (GRCm39)	missense	probably damaging	1.00
X0027:Ndst4	UTSW	3	125,231,595 (GRCm39)	missense	probably benign
Z1177:Ndst4	UTSW	3	125,364,389 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

Posted On

2014-07-14