Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01516:Hs3st5'

90398

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01516

Quality Score

Status

Chromosome

Chromosomal Location

36382810-36710393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36709047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 194 (T194I)

Ref Sequence

ENSEMBL: ENSMUSP00000129434 (fasta)

Gene Model

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

AlphaFold

Q8BSL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000058738
AA Change: T194I

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

SMART Domains

Protein: ENSMUSP00000060229
Gene: ENSMUSG00000044499
AA Change: T194I

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: T194I

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

SMART Domains

Protein: ENSMUSP00000130778
Gene: ENSMUSG00000044499
AA Change: T194I

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: T194I

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

SMART Domains

Protein: ENSMUSP00000129434
Gene: ENSMUSG00000044499
AA Change: T194I

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,838,548 (GRCm39)	S95P	probably benign	Het
Abca6	T	A	11: 110,109,043 (GRCm39)	H709L	possibly damaging	Het
Bpifb1	A	G	2: 154,060,172 (GRCm39)	Y455C	probably benign	Het
Clk1	G	A	1: 58,453,563 (GRCm39)	T341I	probably damaging	Het
Corin	A	T	5: 72,611,830 (GRCm39)	Y77*	probably null	Het
Cps1	C	T	1: 67,269,443 (GRCm39)	R1481C	probably damaging	Het
Cspg5	A	G	9: 110,075,761 (GRCm39)	K166E	probably benign	Het
Dcxr	A	G	11: 120,616,584 (GRCm39)		probably null	Het
Epha5	C	A	5: 84,534,135 (GRCm39)	L65F	probably damaging	Het
Erbb4	T	A	1: 68,367,404 (GRCm39)	K438*	probably null	Het
Gldc	A	T	19: 30,076,432 (GRCm39)	C1005S	probably damaging	Het
Hspa12a	T	A	19: 58,816,108 (GRCm39)	D45V	probably benign	Het
Il1rn	C	T	2: 24,239,551 (GRCm39)	T130I	probably damaging	Het
Klk1b22	G	T	7: 43,765,732 (GRCm39)	C196F	probably damaging	Het
Lamp1	C	T	8: 13,223,863 (GRCm39)	H332Y	probably damaging	Het
Limd2	T	C	11: 106,049,870 (GRCm39)	T40A	probably benign	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Mbd4	T	C	6: 115,826,491 (GRCm39)	T167A	probably damaging	Het
Mitf	T	A	6: 97,987,351 (GRCm39)		probably null	Het
Mlph	A	G	1: 90,867,112 (GRCm39)	D378G	probably damaging	Het
Mrgprb5	A	T	7: 47,818,132 (GRCm39)	L201Q	probably damaging	Het
Myo5b	A	T	18: 74,760,266 (GRCm39)	I261F	probably damaging	Het
Or8b3b	C	T	9: 38,584,159 (GRCm39)	V207I	probably benign	Het
Or9s23	A	T	1: 92,501,165 (GRCm39)	I91F	probably benign	Het
Paics	T	A	5: 77,104,578 (GRCm39)	L68I	probably damaging	Het
Pramel15	A	G	4: 144,104,337 (GRCm39)	V56A	probably damaging	Het
Prkca	C	T	11: 107,852,428 (GRCm39)	V102M	probably null	Het
Ptpn21	G	A	12: 98,681,448 (GRCm39)	T62I	probably damaging	Het
Ptpre	A	T	7: 135,266,728 (GRCm39)	E212V	probably damaging	Het
Rufy2	A	C	10: 62,847,212 (GRCm39)	K539Q	possibly damaging	Het
Serpinb9d	T	A	13: 33,386,654 (GRCm39)		probably null	Het
Smarcd1	T	C	15: 99,610,094 (GRCm39)	F442L	probably benign	Het
Tas2r115	A	G	6: 132,714,576 (GRCm39)	V125A	probably damaging	Het
Tmem154	C	T	3: 84,591,897 (GRCm39)	H120Y	probably benign	Het
Tnrc6b	A	G	15: 80,786,823 (GRCm39)	K1321E	possibly damaging	Het
Trmt13	A	G	3: 116,383,459 (GRCm39)		probably benign	Het
Tsbp1	A	G	17: 34,668,234 (GRCm39)	D168G	possibly damaging	Het
Vmn1r19	T	C	6: 57,381,857 (GRCm39)	F137L	probably benign	Het
Vmn1r202	T	A	13: 22,685,632 (GRCm39)	T262S	possibly damaging	Het
Vmn2r57	A	G	7: 41,049,370 (GRCm39)	V793A	probably damaging	Het
Wapl	A	G	14: 34,414,038 (GRCm39)	N300S	probably damaging	Het
Xpot	T	A	10: 121,426,127 (GRCm39)		probably null	Het
Zfp784	G	A	7: 5,039,036 (GRCm39)		probably benign	Het
Zfyve26	G	T	12: 79,334,625 (GRCm39)	P131Q	probably benign	Het

Other mutations in Hs3st5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Hs3st5	APN	10	36,708,918 (GRCm39)	missense	probably benign	0.02
IGL00913:Hs3st5	APN	10	36,708,846 (GRCm39)	missense	probably damaging	1.00
IGL01407:Hs3st5	APN	10	36,709,404 (GRCm39)	missense	probably damaging	1.00
IGL02396:Hs3st5	APN	10	36,704,699 (GRCm39)	start codon destroyed	probably benign	0.08
IGL03351:Hs3st5	APN	10	36,709,319 (GRCm39)	missense	probably damaging	1.00
R0606:Hs3st5	UTSW	10	36,708,584 (GRCm39)	missense	probably benign	0.00
R1412:Hs3st5	UTSW	10	36,708,672 (GRCm39)	missense	probably benign	0.02
R1443:Hs3st5	UTSW	10	36,709,410 (GRCm39)	missense	probably benign	0.35
R1493:Hs3st5	UTSW	10	36,708,870 (GRCm39)	missense	probably damaging	1.00
R1768:Hs3st5	UTSW	10	36,709,165 (GRCm39)	missense	probably benign	0.01
R1792:Hs3st5	UTSW	10	36,708,720 (GRCm39)	missense	probably benign
R1991:Hs3st5	UTSW	10	36,708,882 (GRCm39)	missense	probably damaging	1.00
R1992:Hs3st5	UTSW	10	36,708,882 (GRCm39)	missense	probably damaging	1.00
R4330:Hs3st5	UTSW	10	36,708,726 (GRCm39)	missense	probably benign	0.06
R4610:Hs3st5	UTSW	10	36,704,802 (GRCm39)	missense	probably benign	0.26
R5459:Hs3st5	UTSW	10	36,704,742 (GRCm39)	missense	possibly damaging	0.85
R5561:Hs3st5	UTSW	10	36,709,425 (GRCm39)	missense	probably damaging	1.00
R6005:Hs3st5	UTSW	10	36,708,924 (GRCm39)	missense	probably damaging	1.00
R7082:Hs3st5	UTSW	10	36,708,833 (GRCm39)	missense	probably benign	0.01
R7326:Hs3st5	UTSW	10	36,709,190 (GRCm39)	missense	probably damaging	1.00
R7507:Hs3st5	UTSW	10	36,709,011 (GRCm39)	missense	probably damaging	1.00
R7885:Hs3st5	UTSW	10	36,704,776 (GRCm39)	nonsense	probably null
R9147:Hs3st5	UTSW	10	36,708,917 (GRCm39)	missense	probably damaging	0.96
R9372:Hs3st5	UTSW	10	36,708,698 (GRCm39)	nonsense	probably null
R9497:Hs3st5	UTSW	10	36,709,370 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-09