Mutagenetix > Incidental Mutation

Incidental Mutation 'R1493:Hs3st5'

165565

Institutional Source

Beutler Lab

Gene Symbol

Hs3st5

Ensembl Gene

ENSMUSG00000044499

Gene Name

heparan sulfate (glucosamine) 3-O-sulfotransferase 5

Synonyms

LOC382362, D930005L05Rik

MMRRC Submission

039544-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1493 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36382810-36710393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36708870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 135 (G135D)

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: G135D

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

SMART Domains

Protein: ENSMUSP00000060229
Gene: ENSMUSG00000044499
AA Change: G135D

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: G135D

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

SMART Domains

Protein: ENSMUSP00000130778
Gene: ENSMUSG00000044499
AA Change: G135D

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: G135D

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

SMART Domains

Protein: ENSMUSP00000129434
Gene: ENSMUSG00000044499
AA Change: G135D

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

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Abca15	A	T	7: 119,981,513 (GRCm39)	D989V	probably benign	Het
Abcg8	T	C	17: 85,004,107 (GRCm39)	S472P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
Adprm	A	G	11: 66,932,702 (GRCm39)	V69A	possibly damaging	Het
Ankrd27	C	T	7: 35,307,790 (GRCm39)	S343L	probably benign	Het
Arfgef3	A	G	10: 18,506,627 (GRCm39)	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,798 (GRCm39)	E339D	probably benign	Het
Axdnd1	T	A	1: 156,174,271 (GRCm39)	M799L	probably benign	Het
Cars2	A	T	8: 11,567,817 (GRCm39)		probably null	Het
Cd7	T	C	11: 120,928,967 (GRCm39)	T95A	probably damaging	Het
Cep290	A	T	10: 100,398,043 (GRCm39)	T2200S	probably benign	Het
Cep44	A	G	8: 56,985,870 (GRCm39)	S299P	probably damaging	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Ehbp1	T	A	11: 21,956,866 (GRCm39)	E1204V	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm4559	A	T	7: 141,828,050 (GRCm39)	C17*	probably null	Het
Helz	A	G	11: 107,504,751 (GRCm39)	I413V	probably benign	Het
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Hrh1	G	A	6: 114,457,838 (GRCm39)	G373D	probably damaging	Het
Iqcf6	T	C	9: 106,504,641 (GRCm39)	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,758,202 (GRCm39)	S1124R	probably damaging	Het
Map3k5	A	G	10: 19,904,859 (GRCm39)	D387G	probably damaging	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Musk	C	T	4: 58,354,003 (GRCm39)	A352V	probably benign	Het
Myef2l	A	G	3: 10,153,944 (GRCm39)	K238E	probably damaging	Het
Nans	G	A	4: 46,500,761 (GRCm39)	E218K	probably damaging	Het
Niban1	T	A	1: 151,581,841 (GRCm39)	V479D	probably damaging	Het
Ninl	T	G	2: 150,822,015 (GRCm39)	D29A	probably damaging	Het
Nod1	A	G	6: 54,921,041 (GRCm39)	F426L	probably damaging	Het
Notch4	T	A	17: 34,786,656 (GRCm39)	C265*	probably null	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or51h1	T	C	7: 102,308,220 (GRCm39)	L64P	probably damaging	Het
Or52e18	T	A	7: 104,609,709 (GRCm39)	T77S	probably damaging	Het
Orai3	G	A	7: 127,373,077 (GRCm39)	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,711,551 (GRCm39)	Y271C	probably benign	Het
Rfc4	T	C	16: 22,936,758 (GRCm39)	I116V	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Rnmt	G	A	18: 68,446,778 (GRCm39)	D268N	probably damaging	Het
Rsph1	C	T	17: 31,484,873 (GRCm39)	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sgo2b	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Shmt2	A	G	10: 127,354,812 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,430,076 (GRCm39)	T353A	possibly damaging	Het
Stk25	T	C	1: 93,553,322 (GRCm39)	T260A	probably benign	Het
Tasor	A	G	14: 27,171,926 (GRCm39)	S425G	probably damaging	Het
Thap12	A	G	7: 98,364,645 (GRCm39)	H271R	probably benign	Het
Tmprss13	A	G	9: 45,247,405 (GRCm39)	T256A	probably benign	Het
Tpo	A	T	12: 30,181,808 (GRCm39)	I29N	possibly damaging	Het
Trpc2	A	T	7: 101,739,783 (GRCm39)	N569I	probably damaging	Het
Unc13c	T	C	9: 73,546,350 (GRCm39)	T1607A	probably benign	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Vps18	A	G	2: 119,127,613 (GRCm39)	Y812C	probably damaging	Het
Zfp692	A	T	11: 58,204,866 (GRCm39)	I409F	probably damaging	Het
Zfp735	G	A	11: 73,601,305 (GRCm39)	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,246,809 (GRCm39)	S88P	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTGGCACAGATGCAGAATG -3'
(R):5'- GTCGGCTCCCTGACAATGATCAAC -3'

Sequencing Primer
(F):5'- ATTTGGTGGTGCCCACAAC -3'
(R):5'- CCTGACAATGATCAACAGCTTGATG -3'

Posted On

2014-03-28