Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03351:Hs3st5'

419704

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hs3st5

Ensembl Gene

ENSMUSG00000044499

Gene Name

heparan sulfate (glucosamine) 3-O-sulfotransferase 5

Synonyms

LOC382362, D930005L05Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

36506814-36834397 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36833323 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 285 (Y285N)

Ref Sequence

ENSEMBL: ENSMUSP00000129434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058738] [ENSMUST00000167191] [ENSMUST00000168572]

Predicted Effect

probably damaging
Transcript: ENSMUST00000058738
AA Change: Y285N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060229
Gene: ENSMUSG00000044499
AA Change: Y285N

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Sulfotransfer_1	90	339	5.5e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167191
AA Change: Y285N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130778
Gene: ENSMUSG00000044499
AA Change: Y285N

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Sulfotransfer_1	90	339	5.5e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168572
AA Change: Y285N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129434
Gene: ENSMUSG00000044499
AA Change: Y285N

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Sulfotransfer_1	90	339	5.5e-38	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hyal6	G	A	6: 24,743,429	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,364,187	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Serpina6	A	T	12: 103,646,913	I376N	probably damaging	Het
Setx	T	G	2: 29,161,799	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,188,761	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Hs3st5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Hs3st5	APN	10	36832922	missense	probably benign	0.02
IGL00913:Hs3st5	APN	10	36832850	missense	probably damaging	1.00
IGL01407:Hs3st5	APN	10	36833408	missense	probably damaging	1.00
IGL01516:Hs3st5	APN	10	36833051	missense	probably damaging	1.00
IGL02396:Hs3st5	APN	10	36828703	start codon destroyed	probably benign	0.08
R0606:Hs3st5	UTSW	10	36832588	missense	probably benign	0.00
R1412:Hs3st5	UTSW	10	36832676	missense	probably benign	0.02
R1443:Hs3st5	UTSW	10	36833414	missense	probably benign	0.35
R1493:Hs3st5	UTSW	10	36832874	missense	probably damaging	1.00
R1768:Hs3st5	UTSW	10	36833169	missense	probably benign	0.01
R1792:Hs3st5	UTSW	10	36832724	missense	probably benign
R1991:Hs3st5	UTSW	10	36832886	missense	probably damaging	1.00
R1992:Hs3st5	UTSW	10	36832886	missense	probably damaging	1.00
R4330:Hs3st5	UTSW	10	36832730	missense	probably benign	0.06
R4610:Hs3st5	UTSW	10	36828806	missense	probably benign	0.26
R5459:Hs3st5	UTSW	10	36828746	missense	possibly damaging	0.85
R5561:Hs3st5	UTSW	10	36833429	missense	probably damaging	1.00
R6005:Hs3st5	UTSW	10	36832928	missense	probably damaging	1.00
R7082:Hs3st5	UTSW	10	36832837	missense	probably benign	0.01
R7326:Hs3st5	UTSW	10	36833194	missense	probably damaging	1.00
R7507:Hs3st5	UTSW	10	36833015	missense	probably damaging	1.00
R7885:Hs3st5	UTSW	10	36828780	nonsense	probably null

Posted On

2016-08-02