Mutagenetix > Incidental Mutation

Incidental Mutation 'R6966:Hs6st1'

541977

Institutional Source

Beutler Lab

Gene Symbol

Hs6st1

Ensembl Gene

ENSMUSG00000045216

Gene Name

heparan sulfate 6-O-sulfotransferase 1

Synonyms

6OST1

MMRRC Submission

045076-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R6966 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36107481-36145527 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 36143299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 411 (W411*)

Ref Sequence

ENSEMBL: ENSMUSP00000085499 (fasta)

Gene Model

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

AlphaFold

Q9QYK5

Predicted Effect

probably null
Transcript: ENSMUST00000088174
AA Change: W411*

SMART Domains

Protein: ENSMUSP00000085499
Gene: ENSMUSG00000045216
AA Change: W411*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,974,472 (GRCm39)	R177C	possibly damaging	Het
Adgrb2	CG	C	4: 129,908,155 (GRCm39)		probably null	Het
Bahcc1	G	A	11: 120,173,985 (GRCm39)	V1582M	probably damaging	Het
Baiap2	A	T	11: 119,897,231 (GRCm39)	R529*	probably null	Het
Bcl9l	C	T	9: 44,420,685 (GRCm39)	Q1327*	probably null	Het
Brsk2	T	A	7: 141,538,270 (GRCm39)	C139S	possibly damaging	Het
Catsper3	T	A	13: 55,946,672 (GRCm39)	I123N	probably damaging	Het
Cd84	A	G	1: 171,713,976 (GRCm39)	N325D	possibly damaging	Het
Chid1	T	A	7: 141,076,297 (GRCm39)	Y357F	possibly damaging	Het
Clstn2	A	T	9: 97,408,459 (GRCm39)	Y416*	probably null	Het
Cnot1	A	T	8: 96,451,160 (GRCm39)	L2189Q	probably damaging	Het
Csnk2b	T	A	17: 35,336,758 (GRCm39)	I170L	probably benign	Het
Dnah3	T	C	7: 119,631,977 (GRCm39)	Q1326R	probably damaging	Het
Drd1	T	C	13: 54,207,564 (GRCm39)	I210V	probably damaging	Het
Eef1d	G	T	15: 75,775,558 (GRCm39)	Q34K	probably benign	Het
Fam184a	T	C	10: 53,531,095 (GRCm39)	T760A	probably benign	Het
Fnip1	G	T	11: 54,373,385 (GRCm39)	V199F	probably benign	Het
Glyatl3	T	C	17: 41,215,829 (GRCm39)	K226E	probably damaging	Het
Gm19410	C	T	8: 36,285,127 (GRCm39)	T2093I	possibly damaging	Het
Herc1	A	T	9: 66,318,347 (GRCm39)	E1206D	probably benign	Het
Hsf2	C	A	10: 57,372,080 (GRCm39)	S60R	probably damaging	Het
Hyal5	C	A	6: 24,891,291 (GRCm39)	N368K	probably damaging	Het
Itgb2l	A	T	16: 96,231,843 (GRCm39)	F308I	probably benign	Het
Kdm7a	G	A	6: 39,129,773 (GRCm39)	L468F	probably damaging	Het
Lamp3	A	T	16: 19,518,403 (GRCm39)	L278*	probably null	Het
Ly6c1	A	T	15: 74,917,289 (GRCm39)		probably benign	Het
Mark3	A	G	12: 111,606,458 (GRCm39)	N524D	probably damaging	Het
Met	T	G	6: 17,531,531 (GRCm39)	L603R	possibly damaging	Het
Mical1	A	T	10: 41,355,750 (GRCm39)	Q198L	probably damaging	Het
Nacad	T	A	11: 6,552,634 (GRCm39)	I186F	possibly damaging	Het
Nt5c3b	A	T	11: 100,320,750 (GRCm39)	M257K	probably benign	Het
Nuak2	T	C	1: 132,252,770 (GRCm39)	M108T	possibly damaging	Het
Nub1	T	A	5: 24,894,470 (GRCm39)	Y51N	probably damaging	Het
Nxpe5	T	C	5: 138,237,679 (GRCm39)	S68P	probably damaging	Het
Or10ag58	C	T	2: 87,265,623 (GRCm39)	T264I	probably damaging	Het
Or5d44	A	G	2: 88,141,835 (GRCm39)	S102P	probably benign	Het
Or6c66	A	G	10: 129,461,633 (GRCm39)	V99A	probably benign	Het
Pias3	A	G	3: 96,609,511 (GRCm39)	D276G	probably damaging	Het
Setd7	A	G	3: 51,437,605 (GRCm39)	Y217H	probably damaging	Het
Slc23a1	A	T	18: 35,758,114 (GRCm39)	I142N	probably damaging	Het
Slx4ip	T	C	2: 136,910,144 (GRCm39)	S310P	probably damaging	Het
Tcp11l2	G	A	10: 84,427,133 (GRCm39)	R199Q	possibly damaging	Het
Tgm4	T	A	9: 122,880,207 (GRCm39)	D226E	possibly damaging	Het
Tspyl4	C	A	10: 34,173,673 (GRCm39)	A55E	probably benign	Het
Uap1l1	A	G	2: 25,254,950 (GRCm39)	I146T	probably damaging	Het
Ush2a	G	A	1: 188,308,441 (GRCm39)	G2030D	probably damaging	Het
Uts2r	G	A	11: 121,052,213 (GRCm39)	G359D	possibly damaging	Het
Vwa7	T	C	17: 35,236,072 (GRCm39)	S9P	probably benign	Het
Zbtb16	A	G	9: 48,568,654 (GRCm39)	C604R	probably damaging	Het
Zfp804b	A	G	5: 6,821,615 (GRCm39)	S483P	probably damaging	Het
Zfpm1	G	A	8: 123,058,904 (GRCm39)	A175T	probably damaging	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
R1355:Hs6st1	UTSW	1	36,142,657 (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
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'- TTCAGCAGCGTTACCAGTAC -3'
(R):5'- TCGGCTAAGCAGACACGTTC -3'

Sequencing Primer
(F):5'- CGTTACCAGTACAAGAGACAGCTG -3'
(R):5'- CAGTTTTAACTATGACATGGGGGCC -3'

Posted On

2018-11-28