Mutagenetix > Incidental Mutation

Incidental Mutation 'R7885:Hs3st5'

609015

Institutional Source

Beutler Lab

Gene Symbol

Hs3st5

Ensembl Gene

ENSMUSG00000044499

Gene Name

heparan sulfate (glucosamine) 3-O-sulfotransferase 5

Synonyms

LOC382362, D930005L05Rik

MMRRC Submission

045937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7885 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36382810-36710393 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 36704776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 26 (Y26*)

Ref Sequence

ENSEMBL: ENSMUSP00000060229 (fasta)

Gene Model

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

AlphaFold

Q8BSL4

Predicted Effect

probably null
Transcript: ENSMUST00000058738
AA Change: Y26*

SMART Domains

Protein: ENSMUSP00000060229
Gene: ENSMUSG00000044499
AA Change: Y26*

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 null
Transcript: ENSMUST00000167191
AA Change: Y26*

SMART Domains

Protein: ENSMUSP00000130778
Gene: ENSMUSG00000044499
AA Change: Y26*

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 null
Transcript: ENSMUST00000168572
AA Change: Y26*

SMART Domains

Protein: ENSMUSP00000129434
Gene: ENSMUSG00000044499
AA Change: Y26*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,131,542 (GRCm39)	V649A	possibly damaging	Het
Arglu1	C	T	8: 8,717,337 (GRCm39)	R244H	possibly damaging	Het
Asic5	A	T	3: 81,913,812 (GRCm39)	Y204F	probably benign	Het
Asz1	A	G	6: 18,104,876 (GRCm39)	F76S	probably damaging	Het
Bin1	G	A	18: 32,552,896 (GRCm39)	A174T	probably damaging	Het
Bnipl	A	C	3: 95,157,551 (GRCm39)	S23A	probably benign	Het
Cd19	T	C	7: 126,011,303 (GRCm39)	T294A	probably benign	Het
Cdon	G	A	9: 35,367,818 (GRCm39)	V238I	probably benign	Het
Chd3	A	T	11: 69,247,451 (GRCm39)	D957E	probably benign	Het
Crhbp	T	C	13: 95,568,515 (GRCm39)	Q307R	probably damaging	Het
Cst3	A	G	2: 148,714,741 (GRCm39)	M112T	probably benign	Het
Dgkb	A	G	12: 38,189,425 (GRCm39)	E276G	probably damaging	Het
Exoc4	T	A	6: 33,735,001 (GRCm39)	N539K	probably benign	Het
Gm3099	A	G	14: 15,345,429 (GRCm39)	E85G	probably benign	Het
Gpatch2	A	G	1: 186,957,698 (GRCm39)		probably null	Het
Hspg2	A	T	4: 137,244,148 (GRCm39)	D802V	probably damaging	Het
Ifih1	A	G	2: 62,431,813 (GRCm39)	V846A	possibly damaging	Het
Lama4	T	A	10: 38,964,840 (GRCm39)	S1402T	probably benign	Het
Lrmda	A	G	14: 22,648,388 (GRCm39)	T73A	unknown	Het
Lrrc1	A	T	9: 77,349,471 (GRCm39)	V365E	probably damaging	Het
Lrrc37a	T	A	11: 103,393,868 (GRCm39)	Q519L	probably benign	Het
Mlc1	G	T	15: 88,862,107 (GRCm39)	D36E	probably benign	Het
Mrc2	A	T	11: 105,223,092 (GRCm39)	D445V	probably damaging	Het
Muc16	A	G	9: 18,550,760 (GRCm39)	S5178P	probably benign	Het
Nbea	A	G	3: 55,573,110 (GRCm39)	I2491T	probably damaging	Het
Ncoa1	A	G	12: 4,389,044 (GRCm39)	I77T	probably damaging	Het
Npepps	G	T	11: 97,109,474 (GRCm39)	H701N	probably damaging	Het
Or4n4b	T	G	14: 50,536,041 (GRCm39)	T242P	probably damaging	Het
Or7g22	A	T	9: 19,048,831 (GRCm39)	I181F	possibly damaging	Het
Pclo	T	TTCTAG	5: 14,764,209 (GRCm39)		probably null	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Pclo	TCTAT	TCTATACTAT	5: 14,764,205 (GRCm39)		probably null	Het
Pi4kb	T	C	3: 94,906,387 (GRCm39)	Y645H	probably damaging	Het
Pik3r5	C	T	11: 68,383,528 (GRCm39)	A449V	possibly damaging	Het
Plat	A	G	8: 23,261,736 (GRCm39)	T45A	probably benign	Het
Platr25	T	C	13: 62,848,676 (GRCm39)	K62R	possibly damaging	Het
Ppp5c	A	G	7: 16,740,111 (GRCm39)	V410A	possibly damaging	Het
Prdm2	C	T	4: 142,861,140 (GRCm39)	A717T	probably benign	Het
Pstpip2	C	A	18: 77,882,422 (GRCm39)	T2K	probably benign	Het
Ptpn12	A	C	5: 21,203,523 (GRCm39)	S418R	possibly damaging	Het
Rint1	A	G	5: 24,010,642 (GRCm39)	S255G	probably benign	Het
Rmc1	T	C	18: 12,322,371 (GRCm39)	L608P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Stab2	T	C	10: 86,714,776 (GRCm39)	H1581R	probably benign	Het
Stau2	T	C	1: 16,530,577 (GRCm39)	Y114C	unknown	Het
Ticam1	T	C	17: 56,578,067 (GRCm39)	T343A	probably benign	Het
Tmem131l	T	C	3: 83,817,724 (GRCm39)	K1259E	possibly damaging	Het
Vmn2r103	T	A	17: 20,013,385 (GRCm39)	F169I	probably benign	Het
Vps33a	T	C	5: 123,673,312 (GRCm39)	K425E	possibly damaging	Het
Vwa8	T	C	14: 79,258,089 (GRCm39)	M746T	probably benign	Het
Zc3hav1	A	G	6: 38,313,598 (GRCm39)	I149T	possibly damaging	Het
Zfp708	A	T	13: 67,222,193 (GRCm39)	D62E	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
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
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
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'- TACCGCCAAAGTTTCAGTGTG -3'
(R):5'- GAGCAGTGTGAAGCATGTTTC -3'

Sequencing Primer
(F):5'- GATCTCATTGCAAAGTGGCC -3'
(R):5'- GTGAAGCATGTTTCTTCTATAAGGTC -3'

Posted On

2019-12-20