Mutagenetix > Incidental Mutation

Incidental Mutation 'R8018:Hs3st2'

617218

Institutional Source

Beutler Lab

Gene Symbol

Hs3st2

Ensembl Gene

ENSMUSG00000046321

Gene Name

heparan sulfate (glucosamine) 3-O-sulfotransferase 2

Synonyms

6430516N12Rik, A830061E14Rik

MMRRC Submission

067458-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120991082-121100993 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 121099639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084628]

AlphaFold

Q673U1

Predicted Effect

probably null
Transcript: ENSMUST00000084628

SMART Domains

Protein: ENSMUSP00000081678
Gene: ENSMUSG00000046321

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:Sulfotransfer_3	47	295	2e-9	PFAM
Pfam:Sulfotransfer_1	114	362	3.1e-49	PFAM

Coding Region Coverage

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

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,880,991 (GRCm39)	T146I	unknown	Het
Abca16	A	G	7: 120,132,866 (GRCm39)	E1265G	probably benign	Het
Adar	T	C	3: 89,654,882 (GRCm39)	S924P	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankmy1	A	T	1: 92,814,003 (GRCm39)	L392Q	probably benign	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Ccdc158	T	C	5: 92,771,260 (GRCm39)	D985G	possibly damaging	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Ctbp2	T	C	7: 132,616,095 (GRCm39)	K280R	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnaaf4	T	A	9: 72,879,598 (GRCm39)		probably benign	Het
Dynap	T	C	18: 70,375,093 (GRCm39)	T41A	possibly damaging	Het
Elfn2	A	G	15: 78,557,968 (GRCm39)	L193P	probably damaging	Het
Fcrl2	A	T	3: 87,166,933 (GRCm39)	L20*	probably null	Het
Flcn	T	C	11: 59,684,948 (GRCm39)	D501G	probably damaging	Het
Gmip	A	G	8: 70,268,143 (GRCm39)	E399G	probably benign	Het
Grm7	A	G	6: 111,184,737 (GRCm39)	E356G	probably benign	Het
Kcnh2	G	A	5: 24,525,014 (GRCm39)	S1158L	probably damaging	Het
Lancl2	A	G	6: 57,690,078 (GRCm39)	T104A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Mthfd2l	T	A	5: 91,107,672 (GRCm39)	I178N	probably damaging	Het
Nbeal2	G	T	9: 110,458,225 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,006 (GRCm39)	K564*	probably null	Het
Nipal3	C	T	4: 135,174,659 (GRCm39)	R364H	possibly damaging	Het
Or2b4	A	G	17: 38,116,038 (GRCm39)	M1V	probably null	Het
Oxa1l	A	G	14: 54,600,757 (GRCm39)	I77V	not run	Het
Phf10	T	A	17: 15,174,378 (GRCm39)	Q233H	possibly damaging	Het
Pias2	T	A	18: 77,216,654 (GRCm39)	N288K	probably benign	Het
Pramel43	T	C	5: 94,761,839 (GRCm39)	N244S	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Ralgapa2	T	C	2: 146,182,311 (GRCm39)	D1676G	probably damaging	Het
Rapgefl1	T	G	11: 98,731,166 (GRCm39)		probably null	Het
Rrp7a	C	T	15: 83,001,125 (GRCm39)	E269K	possibly damaging	Het
Ryr3	A	C	2: 112,508,777 (GRCm39)	M3399R	probably damaging	Het
Secisbp2l	C	A	2: 125,587,829 (GRCm39)	R762L	probably damaging	Het
Smad7	T	G	18: 75,502,355 (GRCm39)	L110R	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tcea3	T	G	4: 135,985,229 (GRCm39)		probably benign	Het
Tdrd9	T	C	12: 111,999,180 (GRCm39)	V765A	probably benign	Het
Tdrd9	C	T	12: 112,010,822 (GRCm39)	R1130W	probably damaging	Het
Tia1	C	T	6: 86,402,034 (GRCm39)	P189S	probably benign	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Ubxn8	A	G	8: 34,113,243 (GRCm39)	C204R	probably damaging	Het
Vmn1r76	A	G	7: 11,664,810 (GRCm39)	S135P	probably damaging	Het
Vps18	T	A	2: 119,124,492 (GRCm39)	L473H	probably damaging	Het
Zfp444	A	G	7: 6,191,142 (GRCm39)	T108A	probably benign	Het

Other mutations in Hs3st2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01904:Hs3st2	APN	7	121,100,207 (GRCm39)	missense	probably damaging	1.00
IGL03356:Hs3st2	APN	7	120,992,389 (GRCm39)	missense	probably damaging	1.00
R0469:Hs3st2	UTSW	7	121,099,792 (GRCm39)	missense	probably damaging	1.00
R0510:Hs3st2	UTSW	7	121,099,792 (GRCm39)	missense	probably damaging	1.00
R0849:Hs3st2	UTSW	7	121,100,255 (GRCm39)	missense	possibly damaging	0.89
R3001:Hs3st2	UTSW	7	121,099,910 (GRCm39)	missense	probably damaging	0.97
R3002:Hs3st2	UTSW	7	121,099,910 (GRCm39)	missense	probably damaging	0.97
R4056:Hs3st2	UTSW	7	121,099,925 (GRCm39)	missense	probably damaging	1.00
R4997:Hs3st2	UTSW	7	121,099,679 (GRCm39)	missense	possibly damaging	0.95
R5705:Hs3st2	UTSW	7	120,992,305 (GRCm39)	missense	probably damaging	1.00
R6016:Hs3st2	UTSW	7	121,099,922 (GRCm39)	missense	probably damaging	1.00
R6821:Hs3st2	UTSW	7	121,099,745 (GRCm39)	missense	possibly damaging	0.94
R7404:Hs3st2	UTSW	7	121,100,168 (GRCm39)	missense	possibly damaging	0.67
R8111:Hs3st2	UTSW	7	120,992,362 (GRCm39)	missense	probably damaging	1.00
R8118:Hs3st2	UTSW	7	120,996,651 (GRCm39)	missense	probably benign	0.07
R8949:Hs3st2	UTSW	7	121,100,017 (GRCm39)	missense	probably benign
R9447:Hs3st2	UTSW	7	120,992,289 (GRCm39)	missense	probably damaging	1.00
X0067:Hs3st2	UTSW	7	121,099,759 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTGGAGGCTTACTGTATTCATTAC -3'
(R):5'- CTTGGAAAGAGTCTGCGTGTAG -3'

Sequencing Primer
(F):5'- TTTTATAAAACACACACACACAATGC -3'
(R):5'- CGTGTAGTCAGAGATGGCTC -3'

Posted On

2020-01-23