Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02396:Hs3st5'

294339

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 #

IGL02396

Quality Score

Status

Chromosome

Chromosomal Location

36382810-36710393 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 36704699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000129434 (fasta)

Gene Model

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

AlphaFold

Q8BSL4

Predicted Effect

probably benign
Transcript: ENSMUST00000058738
AA Change: M1L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000060229
Gene: ENSMUSG00000044499
AA Change: M1L

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 benign
Transcript: ENSMUST00000167191
AA Change: M1L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130778
Gene: ENSMUSG00000044499
AA Change: M1L

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 benign
Transcript: ENSMUST00000168572
AA Change: M1L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129434
Gene: ENSMUSG00000044499
AA Change: M1L

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,882,256 (GRCm39)		probably benign	Het
Bhmt1b	A	G	18: 87,774,780 (GRCm39)	E101G	possibly damaging	Het
Bmp3	C	A	5: 99,020,578 (GRCm39)	Q334K	possibly damaging	Het
Bnc2	G	T	4: 84,194,246 (GRCm39)	S1026R	probably benign	Het
Bsn	C	T	9: 107,993,245 (GRCm39)	G836S	possibly damaging	Het
Cand2	A	G	6: 115,768,149 (GRCm39)		probably benign	Het
Ccdc24	T	C	4: 117,726,826 (GRCm39)	T296A	possibly damaging	Het
Ccdc38	A	G	10: 93,409,994 (GRCm39)	N271S	possibly damaging	Het
Ccdc81	T	G	7: 89,530,857 (GRCm39)	I362L	probably benign	Het
Cdhr3	T	A	12: 33,095,195 (GRCm39)	I625F	possibly damaging	Het
Col12a1	T	A	9: 79,569,865 (GRCm39)	R1568S	probably benign	Het
Cpeb4	T	A	11: 31,875,441 (GRCm39)	S547T	probably benign	Het
Dennd4c	T	A	4: 86,743,237 (GRCm39)	N1075K	probably damaging	Het
Esrra	C	A	19: 6,889,373 (GRCm39)	V339L	probably benign	Het
Ghr	A	T	15: 3,487,480 (GRCm39)	M1K	probably null	Het
Gm4987	T	A	X: 45,544,991 (GRCm39)		noncoding transcript	Het
Golga2	G	T	2: 32,188,656 (GRCm39)		probably benign	Het
Gys1	T	A	7: 45,089,012 (GRCm39)	I137N	probably damaging	Het
Hsd3b5	T	A	3: 98,529,343 (GRCm39)	T96S	probably benign	Het
Ighv6-3	T	C	12: 114,355,356 (GRCm39)	D111G	probably damaging	Het
Immp1l	T	A	2: 105,767,351 (GRCm39)	I70N	probably damaging	Het
Ints4	G	A	7: 97,187,107 (GRCm39)	V866I	possibly damaging	Het
Large2	G	T	2: 92,196,668 (GRCm39)	Y529*	probably null	Het
Maf1	C	A	15: 76,237,457 (GRCm39)	Y166*	probably null	Het
Manba	T	A	3: 135,250,525 (GRCm39)	M384K	probably damaging	Het
Mapk4	C	A	18: 74,067,068 (GRCm39)		probably null	Het
Mc5r	T	C	18: 68,472,537 (GRCm39)	S299P	possibly damaging	Het
Mdn1	T	A	4: 32,700,120 (GRCm39)	N1404K	probably damaging	Het
Milr1	C	A	11: 106,656,065 (GRCm39)	Y212*	probably null	Het
Ncor2	A	G	5: 125,114,978 (GRCm39)	S1115P	probably damaging	Het
Or10ag57	A	T	2: 87,218,049 (GRCm39)		probably benign	Het
Or4f61	C	A	2: 111,922,812 (GRCm39)	C78F	probably benign	Het
Osbpl7	T	G	11: 96,946,377 (GRCm39)	L158R	probably damaging	Het
Psmd4	A	T	3: 94,943,221 (GRCm39)	L61Q	probably damaging	Het
Rassf9	A	T	10: 102,381,554 (GRCm39)	N310I	possibly damaging	Het
Rpl21-ps6	A	G	17: 56,222,400 (GRCm39)		noncoding transcript	Het
Slc31a2	T	C	4: 62,215,310 (GRCm39)	I119T	probably damaging	Het
Srgap2	C	A	1: 131,220,413 (GRCm39)	C187F	probably damaging	Het
Tekt5	C	A	16: 10,196,931 (GRCm39)	A307S	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Ttn	A	G	2: 76,775,432 (GRCm39)	V1916A	unknown	Het
Wee1	T	G	7: 109,741,300 (GRCm39)	V641G	probably damaging	Het
Zfand6	G	A	7: 84,267,111 (GRCm39)	P157L	probably damaging	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
IGL01516:Hs3st5	APN	10	36,709,047 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16