Mutagenetix > Incidental Mutation

Incidental Mutation 'R9196:Ndst4'

697934

Institutional Source

Beutler Lab

Gene Symbol

Ndst4

Ensembl Gene

ENSMUSG00000027971

Gene Name

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

Synonyms

4930439H17Rik

MMRRC Submission

068955-MU

Accession Numbers

Essential gene?

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

Stock #

R9196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125197725-125522548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125518385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 354 (S354L)

Ref Sequence

ENSEMBL: ENSMUSP00000133575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173932] [ENSMUST00000174648] [ENSMUST00000198101]

AlphaFold

Q9EQW8

Predicted Effect

probably benign
Transcript: ENSMUST00000173932
AA Change: S862L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: S862L

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 benign
Transcript: ENSMUST00000174648
AA Change: S354L

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: S354L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198101

SMART Domains

Protein: ENSMUSP00000142414
Gene: ENSMUSG00000027971

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	3	148	7e-22	PFAM

Meta Mutation Damage Score

0.1106

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

92% (35/38)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,605,644 (GRCm39)	L176P	probably benign	Het
Abtb2	A	T	2: 103,513,647 (GRCm39)	H352L	possibly damaging	Het
Adgrf5	T	C	17: 43,755,995 (GRCm39)	V651A	possibly damaging	Het
Cc2d1b	T	A	4: 108,485,134 (GRCm39)	L519Q	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cenpn	G	A	8: 117,658,344 (GRCm39)	D97N	probably damaging	Het
Cfap54	A	G	10: 92,873,753 (GRCm39)	C576R	probably benign	Het
Col8a1	A	T	16: 57,447,730 (GRCm39)	D593E	unknown	Het
Dsel	C	T	1: 111,787,863 (GRCm39)	E891K	probably benign	Het
Duox1	T	C	2: 122,150,689 (GRCm39)	Y255H	probably benign	Het
Fzd6	C	A	15: 38,895,102 (GRCm39)	L423M	probably damaging	Het
Fzd6	T	G	15: 38,895,103 (GRCm39)	L423R	probably damaging	Het
Galntl6	G	T	8: 58,415,461 (GRCm39)	L231I	probably damaging	Het
Grm5	T	C	7: 87,723,518 (GRCm39)	Y603H	probably damaging	Het
Hepacam	A	T	9: 37,279,052 (GRCm39)	Q27L	probably benign	Het
Hibadh	C	T	6: 52,525,865 (GRCm39)	V262I	probably damaging	Het
Hs3st1	T	A	5: 39,771,962 (GRCm39)	D227V	probably damaging	Het
Inpp1	A	G	1: 52,833,778 (GRCm39)	L106P	probably damaging	Het
Itprid1	A	T	6: 55,952,613 (GRCm39)	Q852L	probably damaging	Het
Jmy	T	A	13: 93,601,209 (GRCm39)	D399V	probably damaging	Het
Krt23	A	T	11: 99,371,855 (GRCm39)	I332N	probably benign	Het
Lrrc23	T	C	6: 124,755,189 (GRCm39)	K116R	possibly damaging	Het
Myo10	T	A	15: 25,805,716 (GRCm39)	I1699N	probably damaging	Het
Neto1	A	T	18: 86,413,965 (GRCm39)		probably benign	Het
Nlrp9a	T	A	7: 26,258,158 (GRCm39)	L592Q	probably damaging	Het
Nol10	A	G	12: 17,455,316 (GRCm39)	Q439R	probably benign	Het
Pcbp3	A	G	10: 76,621,003 (GRCm39)	S216P	probably damaging	Het
Pcdhb20	T	A	18: 37,638,024 (GRCm39)	H183Q	probably benign	Het
Reln	A	C	5: 22,357,471 (GRCm39)	S198R	probably damaging	Het
Rtn4	T	C	11: 29,658,471 (GRCm39)	V875A	probably benign	Het
Skic2	T	C	17: 35,068,877 (GRCm39)	S41G	probably benign	Het
Sorbs2	A	G	8: 46,258,864 (GRCm39)	R1134G	probably benign	Het
Trpc4	A	G	3: 54,129,872 (GRCm39)	S213G	probably damaging	Het
Unc79	A	G	12: 103,078,613 (GRCm39)	I1593V	probably benign	Het
Uspl1	T	C	5: 149,151,349 (GRCm39)	S850P	probably benign	Het
Xrra1	T	C	7: 99,563,699 (GRCm39)		probably null	Het
Ythdc2	T	A	18: 44,988,464 (GRCm39)	F717L	probably damaging	Het
Zfp606	T	A	7: 12,227,935 (GRCm39)	C685*	probably null	Het
Zfp764l1	T	C	7: 126,990,761 (GRCm39)	T409A	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
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
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'- AGTTAACTCTCCCAGGTACTCTAC -3'
(R):5'- GCCAATGCGTGCATATATGTTTTC -3'

Sequencing Primer
(F):5'- AACTCTCCCAGGTACTCTACTGTAC -3'
(R):5'- GCGTGCATATATGTTTTCATTTGAC -3'

Posted On

2022-02-07