Mutagenetix > Incidental Mutation

Incidental Mutation 'R1355:Hs6st1'

156255

Institutional Source

Beutler Lab

Gene Symbol

Hs6st1

Ensembl Gene

ENSMUSG00000045216

Gene Name

heparan sulfate 6-O-sulfotransferase 1

Synonyms

6OST1

MMRRC Submission

039420-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R1355 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

36107481-36145527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36142657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 197 (H197Q)

Ref Sequence

ENSEMBL: ENSMUSP00000085499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088174]

AlphaFold

Q9QYK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000088174
AA Change: H197Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085499
Gene: ENSMUSG00000045216
AA Change: H197Q

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
low complexity region	50	62	N/A	INTRINSIC
Pfam:Sulfotransfer_2	79	351	2e-79	PFAM
coiled coil region	352	386	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194670

Meta Mutation Damage Score

0.9133

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show prenatal loss, stunted growth, dilated alveoli and lower postweaning survival. Homozygotes for another null allele show additional defects in placenta, eye, phalanx and tarsus morphology. Homozygotes for a gene trapallele show altered retinal axon guidance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Ankrd52	A	G	10: 128,224,565 (GRCm39)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,260,846 (GRCm39)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,042,482 (GRCm39)	W14*	probably null	Het
B4galnt4	T	C	7: 140,645,308 (GRCm39)	V259A	probably damaging	Het
Ccdc141	A	T	2: 76,860,945 (GRCm39)	I944N	probably damaging	Het
Ccdc146	A	T	5: 21,526,240 (GRCm39)	D224E	probably damaging	Het
Ccne1	A	G	7: 37,805,747 (GRCm39)	I43T	possibly damaging	Het
Cd226	T	A	18: 89,265,147 (GRCm39)	S29T	probably benign	Het
Cebpz	G	T	17: 79,242,753 (GRCm39)	D300E	probably benign	Het
Cryzl1	A	G	16: 91,489,546 (GRCm39)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,729,400 (GRCm39)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,412,703 (GRCm39)		probably benign	Het
Dpy19l4	C	T	4: 11,303,371 (GRCm39)	W183*	probably null	Het
Eml6	T	G	11: 29,783,085 (GRCm39)	S599R	probably benign	Het
Erc1	A	T	6: 119,720,381 (GRCm39)	L440*	probably null	Het
Frem3	A	G	8: 81,417,331 (GRCm39)	Y2012C	probably damaging	Het
Garin5a	A	G	7: 44,146,115 (GRCm39)	K2E	possibly damaging	Het
Gm10288	A	T	3: 146,544,748 (GRCm39)		noncoding transcript	Het
Gm1110	T	A	9: 26,795,057 (GRCm39)	K476N	probably benign	Het
Gm11937	A	T	11: 99,500,733 (GRCm39)	S95T	possibly damaging	Het
H2bc13	T	A	13: 21,900,027 (GRCm39)	Q96L	probably damaging	Het
Ism1	A	T	2: 139,573,994 (GRCm39)	I115F	possibly damaging	Het
Itgb8	C	T	12: 119,134,738 (GRCm39)	G443E	probably benign	Het
Kalrn	T	A	16: 33,795,954 (GRCm39)	I1274F	possibly damaging	Het
Lrrcc1	G	T	3: 14,613,174 (GRCm39)	V299L	probably benign	Het
Mettl5	A	T	2: 69,711,764 (GRCm39)		probably null	Het
Mtcl3	A	T	10: 29,023,318 (GRCm39)	T222S	probably benign	Het
Nlrp2	G	T	7: 5,330,490 (GRCm39)	N635K	possibly damaging	Het
Or4c3d	G	A	2: 89,881,957 (GRCm39)	T237I	probably benign	Het
Or5ac16	A	G	16: 59,022,043 (GRCm39)	S249P	probably damaging	Het
Or5b112	T	A	19: 13,319,882 (GRCm39)	Y253*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Plxna1	A	G	6: 89,297,748 (GRCm39)		probably benign	Het
Ppp4r1	A	T	17: 66,147,982 (GRCm39)	E924D	probably benign	Het
Prdm2	C	T	4: 142,858,533 (GRCm39)	V1586I	probably benign	Het
Pros1	A	G	16: 62,739,921 (GRCm39)	K457E	probably benign	Het
Rer1	T	A	4: 155,160,081 (GRCm39)	M156L	probably benign	Het
Rgs16	A	T	1: 153,619,414 (GRCm39)	K140M	probably damaging	Het
Rgsl1	A	G	1: 153,683,507 (GRCm39)	M1T	probably null	Het
Setdb2	T	A	14: 59,654,890 (GRCm39)	K333N	probably damaging	Het
Sgo2a	A	G	1: 58,057,124 (GRCm39)	T1103A	possibly damaging	Het
Sik3	C	T	9: 46,107,170 (GRCm39)		probably benign	Het
Slc44a3	C	A	3: 121,325,320 (GRCm39)	G47V	probably damaging	Het
Snrpd1	G	A	18: 10,627,818 (GRCm39)	G103D	probably benign	Het
Sspo	T	A	6: 48,425,560 (GRCm39)	S60R	probably benign	Het
Susd1	C	T	4: 59,424,114 (GRCm39)	C37Y	possibly damaging	Het
Tiam1	A	T	16: 89,695,109 (GRCm39)	I116N	probably benign	Het
Ttc3	A	G	16: 94,219,496 (GRCm39)	S492G	possibly damaging	Het
Uckl1	G	T	2: 181,215,169 (GRCm39)	T213K	probably damaging	Het
Usp38	T	C	8: 81,711,662 (GRCm39)	E791G	possibly damaging	Het
Vps13b	C	T	15: 35,422,600 (GRCm39)	R187C	probably damaging	Het
Vwa3a	A	G	7: 120,383,334 (GRCm39)	Y645C	probably damaging	Het
Wasf3	T	C	5: 146,407,018 (GRCm39)		probably benign	Het

Other mutations in Hs6st1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01590:Hs6st1	APN	1	36,142,785 (GRCm39)	missense	probably damaging	0.98
IGL01721:Hs6st1	APN	1	36,108,016 (GRCm39)	missense	probably damaging	1.00
IGL02123:Hs6st1	APN	1	36,142,952 (GRCm39)	missense	possibly damaging	0.84
IGL02498:Hs6st1	APN	1	36,142,821 (GRCm39)	missense	probably damaging	1.00
IGL02662:Hs6st1	APN	1	36,142,893 (GRCm39)	nonsense	probably null
IGL02730:Hs6st1	APN	1	36,142,709 (GRCm39)	missense	probably damaging	1.00
R0359:Hs6st1	UTSW	1	36,108,266 (GRCm39)	critical splice donor site	probably null
R0360:Hs6st1	UTSW	1	36,108,266 (GRCm39)	critical splice donor site	probably null
R1268:Hs6st1	UTSW	1	36,108,007 (GRCm39)	missense	probably damaging	1.00
R1521:Hs6st1	UTSW	1	36,107,967 (GRCm39)	missense	probably damaging	0.99
R1942:Hs6st1	UTSW	1	36,107,803 (GRCm39)	missense	probably benign
R2364:Hs6st1	UTSW	1	36,107,800 (GRCm39)	missense	probably benign	0.05
R4418:Hs6st1	UTSW	1	36,143,108 (GRCm39)	missense	probably damaging	1.00
R4570:Hs6st1	UTSW	1	36,142,628 (GRCm39)	missense	possibly damaging	0.84
R5319:Hs6st1	UTSW	1	36,143,259 (GRCm39)	missense	probably benign	0.01
R5370:Hs6st1	UTSW	1	36,108,162 (GRCm39)	missense	probably damaging	0.99
R5567:Hs6st1	UTSW	1	36,142,719 (GRCm39)	missense	probably benign	0.06
R5570:Hs6st1	UTSW	1	36,142,719 (GRCm39)	missense	probably benign	0.06
R5668:Hs6st1	UTSW	1	36,142,970 (GRCm39)	missense	probably damaging	0.98
R6966:Hs6st1	UTSW	1	36,143,299 (GRCm39)	nonsense	probably null
R8129:Hs6st1	UTSW	1	36,108,105 (GRCm39)	missense	probably damaging	1.00
R8351:Hs6st1	UTSW	1	36,108,141 (GRCm39)	missense	probably damaging	1.00
R8451:Hs6st1	UTSW	1	36,108,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCAGAAACGAGCAACGAATGTC -3'
(R):5'- ATGCCTCGCAGGTTCTTCTTGG -3'

Sequencing Primer
(F):5'- AGGAGAGCTTACTTGATGCC -3'
(R):5'- ATAGGTTGTAGCAGCCCAC -3'

Posted On

2014-02-11