Mutagenetix > Incidental Mutation

Incidental Mutation 'R6153:Hs3st3b1'

489405

Institutional Source

Beutler Lab

Gene Symbol

Hs3st3b1

Ensembl Gene

ENSMUSG00000070407

Gene Name

heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1

Synonyms

3Ost3b, HS3ST3B1, 3-OST-3B, 3OST3B1, m3-OST-3B

MMRRC Submission

044300-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6153 (G1)

Quality Score

113.008

Status

Not validated

Chromosome

Chromosomal Location

63776618-63813116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63780324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 268 (W268R)

Ref Sequence

ENSEMBL: ENSMUSP00000091647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094103]

AlphaFold

Q9QZS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000094103
AA Change: W268R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091647
Gene: ENSMUSG00000070407
AA Change: W268R

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_3	6	318	1.7e-11	PFAM
Pfam:Sulfotransfer_1	137	383	6.3e-48	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,251,259 (GRCm39)		probably null	Het
Ache	T	C	5: 137,290,117 (GRCm39)	I394T	probably damaging	Het
Acsm1	G	A	7: 119,232,289 (GRCm39)	G62D	probably damaging	Het
Actrt3	T	A	3: 30,653,899 (GRCm39)	I34F	probably damaging	Het
Adgrf5	T	C	17: 43,761,974 (GRCm39)	I1223T	possibly damaging	Het
Adora2a	T	C	10: 75,161,981 (GRCm39)	F40S	possibly damaging	Het
Ano8	T	C	8: 71,933,441 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,293,107 (GRCm39)	L675Q	probably damaging	Het
Atg2b	T	C	12: 105,589,741 (GRCm39)	I1837V	possibly damaging	Het
Atp10b	A	G	11: 43,145,109 (GRCm39)	Y1284C	probably damaging	Het
B3gnt7	G	T	1: 86,233,237 (GRCm39)	G44V	probably damaging	Het
Chrna1	G	T	2: 73,403,653 (GRCm39)	H99N	probably benign	Het
Cnksr1	T	C	4: 133,961,204 (GRCm39)	H220R	probably damaging	Het
Cpsf2	T	A	12: 101,965,619 (GRCm39)		probably null	Het
Daglb	T	C	5: 143,489,096 (GRCm39)	L651P	probably benign	Het
Ddx60	A	G	8: 62,398,974 (GRCm39)	D231G	possibly damaging	Het
Ehd4	A	C	2: 119,932,904 (GRCm39)	F174C	probably damaging	Het
Emsy	G	T	7: 98,260,060 (GRCm39)	P9T	probably damaging	Het
Fnbp1l	T	C	3: 122,352,805 (GRCm39)	E217G	probably benign	Het
Gm11596	A	T	11: 99,683,524 (GRCm39)	C199S	unknown	Het
Gmps	T	G	3: 63,908,964 (GRCm39)	C489G	probably benign	Het
Gpsm1	T	C	2: 26,215,425 (GRCm39)	Y296H	probably benign	Het
Heatr5b	T	C	17: 79,138,870 (GRCm39)	T91A	possibly damaging	Het
Il27ra	T	C	8: 84,758,773 (GRCm39)		probably null	Het
Itga5	T	A	15: 103,265,880 (GRCm39)	I156F	probably damaging	Het
Kcnmb3	T	A	3: 32,527,976 (GRCm39)	D96V	probably damaging	Het
Khdrbs1	T	A	4: 129,609,965 (GRCm39)	N417Y	probably damaging	Het
Loxhd1	A	G	18: 77,383,454 (GRCm39)	N118D	possibly damaging	Het
Mdm4	A	G	1: 132,919,845 (GRCm39)	L341P	probably damaging	Het
Mecom	T	C	3: 30,047,797 (GRCm39)	E225G	possibly damaging	Het
Megf8	G	A	7: 25,046,796 (GRCm39)	G1560S	possibly damaging	Het
Mfsd13a	A	T	19: 46,356,321 (GRCm39)	D142V	probably damaging	Het
Muc5b	A	T	7: 141,415,181 (GRCm39)	Y2709F	possibly damaging	Het
Nelfa	A	T	5: 34,056,223 (GRCm39)	I480N	probably damaging	Het
Or10ak8	G	A	4: 118,773,944 (GRCm39)	S240F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Palld	G	T	8: 62,003,186 (GRCm39)	N304K	probably damaging	Het
Pcsk5	A	G	19: 17,488,856 (GRCm39)	L988P	probably damaging	Het
Prmt1	A	T	7: 44,631,251 (GRCm39)	F34I	probably damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Ralb	A	T	1: 119,405,870 (GRCm39)		probably null	Het
Robo2	T	A	16: 73,717,617 (GRCm39)	D141V	probably damaging	Het
Rsrc1	T	C	3: 67,262,895 (GRCm39)	I283T	probably benign	Het
Sec62	A	T	3: 30,864,631 (GRCm39)	K165M	unknown	Het
Sez6	A	G	11: 77,868,648 (GRCm39)	D974G	probably damaging	Het
Shc2	T	A	10: 79,465,752 (GRCm39)	I187F	possibly damaging	Het
Shroom3	G	A	5: 93,112,267 (GRCm39)	R1876Q	probably damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Skil	T	A	3: 31,152,002 (GRCm39)	F175I	probably damaging	Het
Slc1a1	T	C	19: 28,886,935 (GRCm39)	V432A	probably damaging	Het
Slit3	G	T	11: 35,591,310 (GRCm39)	G1374V	possibly damaging	Het
Snx14	T	C	9: 88,273,859 (GRCm39)	Y644C	probably damaging	Het
Snx33	T	A	9: 56,833,983 (GRCm39)	I29F	possibly damaging	Het
Sos1	T	A	17: 80,756,764 (GRCm39)	I263L	probably benign	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tbpl2	C	A	2: 23,966,028 (GRCm39)	V320F	probably damaging	Het
Tmem209	A	G	6: 30,505,794 (GRCm39)	S171P	probably benign	Het
Tprkb	T	A	6: 85,893,172 (GRCm39)		probably null	Het
Tspan11	G	A	6: 127,916,061 (GRCm39)	S119N	probably benign	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp976	A	C	7: 42,263,610 (GRCm39)	Y76D	probably damaging	Het
Zkscan2	G	A	7: 123,088,993 (GRCm39)	T426I	probably benign	Het

Other mutations in Hs3st3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0723:Hs3st3b1	UTSW	11	63,812,401 (GRCm39)	missense	probably benign
R1940:Hs3st3b1	UTSW	11	63,780,569 (GRCm39)	missense	probably benign	0.01
R2386:Hs3st3b1	UTSW	11	63,780,039 (GRCm39)	nonsense	probably null
R4784:Hs3st3b1	UTSW	11	63,780,086 (GRCm39)	missense	probably benign	0.21
R5771:Hs3st3b1	UTSW	11	63,780,098 (GRCm39)	missense	probably benign	0.00
R6102:Hs3st3b1	UTSW	11	63,812,681 (GRCm39)	nonsense	probably null
R6191:Hs3st3b1	UTSW	11	63,780,029 (GRCm39)	missense	probably benign	0.00
R6525:Hs3st3b1	UTSW	11	63,812,424 (GRCm39)	missense	probably benign
R7282:Hs3st3b1	UTSW	11	63,812,397 (GRCm39)	missense	probably benign
R7960:Hs3st3b1	UTSW	11	63,812,694 (GRCm39)	missense	possibly damaging	0.92
R8350:Hs3st3b1	UTSW	11	63,780,390 (GRCm39)	missense	probably benign	0.14
R8450:Hs3st3b1	UTSW	11	63,780,390 (GRCm39)	missense	probably benign	0.14
R9381:Hs3st3b1	UTSW	11	63,812,692 (GRCm39)	missense	probably benign	0.01
R9624:Hs3st3b1	UTSW	11	63,780,110 (GRCm39)	missense	probably benign	0.11
R9649:Hs3st3b1	UTSW	11	63,812,331 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- AAGCCCTTGGTCTGGTTGAAG -3'
(R):5'- AAGACGCCCAGCTACTTTGTG -3'

Sequencing Primer
(F):5'- CCCTTGGTCTGGTTGAAGTAGAAG -3'
(R):5'- AGCTACTTTGTGACCCGGGAG -3'

Posted On

2017-10-10