Mutagenetix > Incidental Mutation

Incidental Mutation 'R7269:Ndst4'

565130

Institutional Source

Beutler Lab

Gene Symbol

Ndst4

Ensembl Gene

ENSMUSG00000027971

Gene Name

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

Synonyms

4930439H17Rik

MMRRC Submission

045320-MU

Accession Numbers

Essential gene?

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

Stock #

R7269 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125197725-125522548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125232007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 192 (D192G)

Ref Sequence

ENSEMBL: ENSMUSP00000133341 (fasta)

Gene Model

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

AlphaFold

Q9EQW8

Predicted Effect

probably benign
Transcript: ENSMUST00000144344

SMART Domains

Protein: ENSMUSP00000120687
Gene: ENSMUSG00000027971

Domain	Start	End	E-Value	Type
Pfam:HSNSD	19	505	1.3e-270	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147016

Predicted Effect

probably damaging
Transcript: ENSMUST00000173932
AA Change: D192G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: D192G

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

Meta Mutation Damage Score

0.3607

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	T	18: 24,606,013 (GRCm39)	N36I	probably damaging	Het
A430033K04Rik	T	A	5: 138,645,014 (GRCm39)	Y300N	possibly damaging	Het
Adipor2	T	C	6: 119,347,205 (GRCm39)	Q26R	probably benign	Het
Ahnak	T	A	19: 8,983,981 (GRCm39)	M1755K	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
AI837181	C	A	19: 5,476,462 (GRCm39)	S208R	probably damaging	Het
Arhgap35	T	G	7: 16,295,652 (GRCm39)	M1138L	probably benign	Het
Card14	T	G	11: 119,228,573 (GRCm39)	L633R	probably damaging	Het
Carmil3	A	G	14: 55,731,352 (GRCm39)	T144A	probably benign	Het
Cbfa2t2	T	A	2: 154,357,895 (GRCm39)	N223K	probably benign	Het
Ccdc39	T	C	3: 33,884,254 (GRCm39)	I363V	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccpg1	G	T	9: 72,920,609 (GRCm39)	R741S	probably benign	Het
Cenpc1	A	G	5: 86,161,366 (GRCm39)	F855L	probably damaging	Het
Cenpc1	A	T	5: 86,180,277 (GRCm39)	M665K	probably benign	Het
Cp	A	G	3: 20,037,641 (GRCm39)	H832R	probably damaging	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dlc1	A	C	8: 37,046,407 (GRCm39)	L730R	probably damaging	Het
Dmbt1	A	T	7: 130,668,351 (GRCm39)	I536F	unknown	Het
Dscam	G	A	16: 96,479,601 (GRCm39)	T1182I	probably benign	Het
Eea1	A	T	10: 95,854,000 (GRCm39)	I553F	probably damaging	Het
Far1	T	C	7: 113,160,654 (GRCm39)	V400A	probably benign	Het
Fbrsl1	A	T	5: 110,580,880 (GRCm39)	S126T	probably benign	Het
Frmpd2	A	T	14: 33,244,838 (GRCm39)	E552V	possibly damaging	Het
Gm5431	T	A	11: 48,779,237 (GRCm39)	T562S	probably benign	Het
Gm5475	T	C	15: 100,324,890 (GRCm39)	F106S	unknown	Het
Gpr12	T	C	5: 146,520,188 (GRCm39)	T245A	probably damaging	Het
Gsta2	A	G	9: 78,239,419 (GRCm39)	Y166H	probably benign	Het
H6pd	A	G	4: 150,067,369 (GRCm39)	V347A	probably benign	Het
Ifih1	T	C	2: 62,475,977 (GRCm39)	T100A	probably benign	Het
Ift70b	A	G	2: 75,767,838 (GRCm39)	F305S	probably damaging	Het
Itga2	C	T	13: 115,023,225 (GRCm39)	W59*	probably null	Het
Knstrn	T	A	2: 118,661,869 (GRCm39)		probably null	Het
Kprp	A	G	3: 92,731,178 (GRCm39)	V624A	probably damaging	Het
Lmbrd2	A	G	15: 9,194,771 (GRCm39)	Y591C	probably damaging	Het
Map7d1	A	G	4: 126,126,666 (GRCm39)	V842A	unknown	Het
Mboat2	A	T	12: 24,881,708 (GRCm39)	T4S	probably benign	Het
Mcph1	T	A	8: 18,657,288 (GRCm39)		probably null	Het
Mrtfb	A	T	16: 13,218,898 (GRCm39)	M515L	possibly damaging	Het
Muc5b	A	G	7: 141,411,272 (GRCm39)	D1406G	unknown	Het
Mylk	G	A	16: 34,605,381 (GRCm39)	G3D	probably damaging	Het
Nemp1	G	T	10: 127,531,345 (GRCm39)	R361L	probably damaging	Het
Nol4	A	C	18: 23,172,846 (GRCm39)	V85G	probably benign	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Obscn	T	C	11: 58,933,838 (GRCm39)	E5342G	probably damaging	Het
Or10al7	C	A	17: 38,366,442 (GRCm39)	C5F	probably damaging	Het
Or4f47	T	A	2: 111,972,905 (GRCm39)	F205Y	probably damaging	Het
Or4p19	C	T	2: 88,242,839 (GRCm39)	M54I	possibly damaging	Het
Or51d1	T	G	7: 102,348,252 (GRCm39)	L269R	probably damaging	Het
Or7d10	A	G	9: 19,831,631 (GRCm39)	N42S	possibly damaging	Het
Pakap	G	T	4: 57,855,217 (GRCm39)	R182L	probably damaging	Het
Pde4dip	A	G	3: 97,674,275 (GRCm39)	S214P	probably damaging	Het
Per3	A	T	4: 151,116,393 (GRCm39)	C278*	probably null	Het
Pi4k2a	T	C	19: 42,079,125 (GRCm39)	L62P	probably damaging	Het
Plekha7	C	A	7: 115,780,447 (GRCm39)	G126W	probably damaging	Het
Ppp1r13b	T	C	12: 111,801,353 (GRCm39)	K567E	probably damaging	Het
Pradc1	T	A	6: 85,424,548 (GRCm39)	Q134L	probably benign	Het
Pwp2	A	G	10: 78,012,170 (GRCm39)	F628L	probably benign	Het
Rab5c	C	T	11: 100,606,928 (GRCm39)	G217D	probably benign	Het
Rad51ap2	G	T	12: 11,506,807 (GRCm39)	S243I	possibly damaging	Het
Rasgrp4	C	A	7: 28,847,855 (GRCm39)	R432S	probably damaging	Het
Rhot2	C	T	17: 26,061,402 (GRCm39)		probably null	Het
Scn2a	T	A	2: 65,594,113 (GRCm39)	L1654Q	probably damaging	Het
Skint6	A	T	4: 112,711,686 (GRCm39)		probably null	Het
Slc22a28	T	A	19: 8,094,491 (GRCm39)	T177S	probably benign	Het
Slc25a24	G	T	3: 109,065,960 (GRCm39)	Q272H	probably null	Het
Slc3a1	A	T	17: 85,339,873 (GRCm39)	I144F	probably damaging	Het
Smg9	C	T	7: 24,105,495 (GRCm39)	R176C	possibly damaging	Het
Sorl1	A	T	9: 41,948,499 (GRCm39)	L762Q	probably damaging	Het
Srebf2	C	A	15: 82,088,270 (GRCm39)	P1079T	probably benign	Het
Sub1	A	T	15: 11,993,937 (GRCm39)	S4T	probably benign	Het
Tacr1	A	T	6: 82,469,692 (GRCm39)	Y192F	probably benign	Het
Tm4sf19	A	T	16: 32,224,814 (GRCm39)	H54L	probably damaging	Het
Tnxb	T	C	17: 34,914,428 (GRCm39)	L1838P	probably damaging	Het
Trmt1l	T	C	1: 151,333,539 (GRCm39)	S681P	possibly damaging	Het
Ttn	A	G	2: 76,738,176 (GRCm39)	V4167A	unknown	Het
Unc13d	T	A	11: 115,959,056 (GRCm39)	M702L	probably benign	Het
Vgll3	A	G	16: 65,636,404 (GRCm39)	H240R	probably benign	Het
Vmn1r189	C	G	13: 22,286,737 (GRCm39)	W33C	probably benign	Het
Vmn2r17	G	A	5: 109,576,337 (GRCm39)	A403T	possibly damaging	Het
Vmn2r2	G	A	3: 64,033,998 (GRCm39)	T508I	probably benign	Het
Vps54	T	A	11: 21,227,670 (GRCm39)		probably null	Het
Wfs1	G	A	5: 37,125,134 (GRCm39)	Q586*	probably null	Het
Zbp1	A	T	2: 173,055,665 (GRCm39)	H166Q	unknown	Het
Zcchc3	G	A	2: 152,256,294 (GRCm39)	A135V	probably benign	Het
Zfp51	T	C	17: 21,683,960 (GRCm39)	Y192H	probably benign	Het
Zkscan2	T	C	7: 123,088,994 (GRCm39)	T426A	probably benign	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
R1900:Ndst4	UTSW	3	125,491,544 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- TTCTGAAGTACGTCAGCATGG -3'
(R):5'- AACTCGCTGAATCCCGTCATG -3'

Sequencing Primer
(F):5'- CATGGACTCATGGAACCGG -3'
(R):5'- GCCCCAGATCCTGAATAATTGTCG -3'

Posted On

2019-06-26