Mutagenetix > Incidental Mutation

Incidental Mutation 'R8949:Hs3st2'

681516

Institutional Source

Beutler Lab

Gene Symbol

Hs3st2

Ensembl Gene

ENSMUSG00000046321

Gene Name

heparan sulfate (glucosamine) 3-O-sulfotransferase 2

Synonyms

6430516N12Rik, A830061E14Rik

MMRRC Submission

068787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8949 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120991082-121100993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121100017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 288 (I288V)

Ref Sequence

ENSEMBL: ENSMUSP00000081678 (fasta)

Gene Model

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

AlphaFold

Q673U1

Predicted Effect

probably benign
Transcript: ENSMUST00000084628
AA Change: I288V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081678
Gene: ENSMUSG00000046321
AA Change: I288V

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	T	A	5: 90,679,374 (GRCm39)	C289*	probably null	Het
Agpat3	A	G	10: 78,118,989 (GRCm39)	Y202H	probably benign	Het
Atg4b	T	A	1: 93,715,479 (GRCm39)	*394R	probably null	Het
Atxn2l	A	T	7: 126,091,377 (GRCm39)	H1037Q	probably damaging	Het
Baz1a	T	C	12: 54,941,238 (GRCm39)	Y1504C	probably damaging	Het
Bfsp2	T	C	9: 103,327,152 (GRCm39)	N195S	probably benign	Het
Bmpr1b	T	G	3: 141,586,203 (GRCm39)	S20R	possibly damaging	Het
Bmpr2	C	T	1: 59,906,860 (GRCm39)	P651L	possibly damaging	Het
Cfh	G	T	1: 140,026,705 (GRCm39)	D549E	probably damaging	Het
Cndp2	A	G	18: 84,693,130 (GRCm39)	L210P	probably damaging	Het
Col12a1	C	A	9: 79,581,970 (GRCm39)	R1427L	probably benign	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Dhx32	A	T	7: 133,344,470 (GRCm39)	Y46*	probably null	Het
Dnah9	A	G	11: 66,059,226 (GRCm39)	L23P	possibly damaging	Het
Eef2	T	A	10: 81,014,518 (GRCm39)	V135E	probably damaging	Het
Eef2k	A	T	7: 120,491,211 (GRCm39)	I2F	probably damaging	Het
Gzmg	C	T	14: 56,396,926 (GRCm39)		probably null	Het
Hr	T	C	14: 70,795,328 (GRCm39)	I320T	probably benign	Het
Ighv1-31	T	C	12: 114,793,036 (GRCm39)	I67V	probably benign	Het
Krtap6-2	T	C	16: 89,216,703 (GRCm39)	Y88C	unknown	Het
Ksr2	T	C	5: 117,823,560 (GRCm39)	C446R	possibly damaging	Het
Lct	A	T	1: 128,221,929 (GRCm39)	W1537R	probably damaging	Het
Lrp1	T	A	10: 127,425,405 (GRCm39)		probably benign	Het
Map3k13	A	G	16: 21,723,882 (GRCm39)	H288R	probably benign	Het
Mettl25	A	G	10: 105,668,714 (GRCm39)	V136A	probably benign	Het
Muc16	A	G	9: 18,432,221 (GRCm39)		probably null	Het
Ndufv3	A	G	17: 31,746,742 (GRCm39)	K211E	possibly damaging	Het
Nkiras2	A	T	11: 100,510,158 (GRCm39)		probably benign	Het
Nudcd1	T	C	15: 44,251,971 (GRCm39)	E396G	probably benign	Het
Or4g16	T	A	2: 111,137,379 (GRCm39)	F276L	probably damaging	Het
Or52a33	A	T	7: 103,288,702 (GRCm39)	I215K	probably damaging	Het
Or5b104	A	T	19: 13,072,490 (GRCm39)	M1K	probably null	Het
Phaf1	T	A	8: 105,976,075 (GRCm39)	I344K	probably benign	Het
Sgk3	A	G	1: 9,938,699 (GRCm39)		probably benign	Het
Sgsm3	A	G	15: 80,894,612 (GRCm39)	Y544C	probably damaging	Het
Sirt1	T	C	10: 63,161,964 (GRCm39)	E307G	probably damaging	Het
Skint6	T	A	4: 112,931,296 (GRCm39)	Q498H	probably benign	Het
Smpdl3b	T	C	4: 132,473,814 (GRCm39)	K84E	probably benign	Het
Spata31h1	A	G	10: 82,123,753 (GRCm39)	F3086L	probably benign	Het
Spcs2	A	G	7: 99,493,923 (GRCm39)	S186P	probably benign	Het
Speer4e2	C	T	5: 15,026,212 (GRCm39)		probably null	Het
Steap1	A	T	5: 5,789,940 (GRCm39)	D24E	probably damaging	Het
Svep1	T	C	4: 58,054,604 (GRCm39)	E3328G	possibly damaging	Het
Syt17	A	G	7: 118,033,054 (GRCm39)		probably null	Het
Tdpoz3	T	C	3: 93,734,399 (GRCm39)	V358A	probably benign	Het
Tecrl	C	T	5: 83,461,154 (GRCm39)	R101Q	probably benign	Het
Tmem184a	C	A	5: 139,791,311 (GRCm39)	A426S	probably benign	Het
Tnc	T	C	4: 63,927,087 (GRCm39)	D813G	probably damaging	Het
Top1	A	G	2: 160,547,182 (GRCm39)	T419A	possibly damaging	Het
Ttll4	T	C	1: 74,720,975 (GRCm39)	I547T	probably damaging	Het
Vmn1r193	T	C	13: 22,403,920 (GRCm39)	D24G	possibly damaging	Het
Wfs1	C	T	5: 37,124,287 (GRCm39)	R792H	probably damaging	Het
Zfp607a	A	G	7: 27,577,944 (GRCm39)	D338G	possibly damaging	Het
Zfp949	C	T	9: 88,450,771 (GRCm39)	R114C	possibly damaging	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
R8018:Hs3st2	UTSW	7	121,099,639 (GRCm39)	critical splice acceptor site	probably null
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
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'- CTTTCCAAGAAGCCGGACATC -3'
(R):5'- AAGGTCTATAAAATTCCCGGAGC -3'

Sequencing Primer
(F):5'- GACATCCCCACCTTCGAGG -3'
(R):5'- TAAAATTCCCGGAGCTGGTC -3'

Posted On

2021-08-31