Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01797:Ndst4'

155393

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndst4

Ensembl Gene

ENSMUSG00000027971

Gene Name

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

Synonyms

4930439H17Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01797

Quality Score

Status

Chromosome

Chromosomal Location

125197725-125522548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125476802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 9 (M9K)

Ref Sequence

ENSEMBL: ENSMUSP00000133575 (fasta)

Gene Model

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

AlphaFold

Q9EQW8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172632

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173932
AA Change: M517K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: M517K

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 damaging
Transcript: ENSMUST00000174648
AA Change: M9K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: M9K

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

Coding Region Coverage

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,113,760 (GRCm39)	V877A	probably benign	Het
Clcn2	T	C	16: 20,531,511 (GRCm39)	I178V	probably damaging	Het
Cnbp	A	G	6: 87,822,542 (GRCm39)		probably benign	Het
Coq8a	A	T	1: 179,997,284 (GRCm39)		probably null	Het
Dctn2	A	G	10: 127,113,182 (GRCm39)	D244G	possibly damaging	Het
Dync1h1	T	A	12: 110,618,630 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Faiml	T	C	9: 99,116,442 (GRCm39)	K83E	probably damaging	Het
Fdx1	A	T	9: 51,854,925 (GRCm39)	C159*	probably null	Het
Fgd3	A	T	13: 49,443,065 (GRCm39)	V169E	probably damaging	Het
Ice1	G	T	13: 70,772,065 (GRCm39)	T51K	probably damaging	Het
Iqca1	A	C	1: 90,072,541 (GRCm39)		probably null	Het
Jup	C	A	11: 100,272,498 (GRCm39)		probably benign	Het
Krt84	A	G	15: 101,436,915 (GRCm39)	V373A	possibly damaging	Het
Nomo1	T	C	7: 45,706,086 (GRCm39)	V480A	probably damaging	Het
Nsun5	A	G	5: 135,404,225 (GRCm39)	H344R	probably damaging	Het
Or13a21	A	G	7: 139,998,931 (GRCm39)	Y252H	probably damaging	Het
Or1e1f	A	T	11: 73,855,644 (GRCm39)	D70V	probably damaging	Het
Pjvk	T	C	2: 76,487,883 (GRCm39)		probably benign	Het
Prkaa1	G	A	15: 5,198,187 (GRCm39)	D159N	probably damaging	Het
Sap130	T	A	18: 31,831,721 (GRCm39)	I736N	probably damaging	Het
Tlcd1	A	G	11: 78,071,160 (GRCm39)		probably null	Het
Tpp1	T	C	7: 105,398,459 (GRCm39)	I286V	probably benign	Het
Ttll5	T	A	12: 86,003,371 (GRCm39)	I1069K	possibly damaging	Het
Ttn	T	G	2: 76,540,257 (GRCm39)	E34243A	possibly damaging	Het
Uqcr10	A	C	11: 4,654,179 (GRCm39)	I43S	possibly damaging	Het
Ush2a	T	A	1: 187,995,706 (GRCm39)	M159K	probably damaging	Het
Vmn2r121	G	A	X: 123,041,048 (GRCm39)		probably benign	Het
Vmn2r30	T	A	7: 7,337,195 (GRCm39)	D147V	probably benign	Het
Xntrpc	T	C	7: 101,739,753 (GRCm39)	I559T	possibly damaging	Het
Zfp268	T	A	4: 145,347,241 (GRCm39)	N48K	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
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
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

Posted On

2014-02-04