Mutagenetix > Incidental Mutation

Incidental Mutation 'R6262:Hs2st1'

506742

Institutional Source

Beutler Lab

Gene Symbol

Hs2st1

Ensembl Gene

ENSMUSG00000040151

Gene Name

heparan sulfate 2-O-sulfotransferase 1

Synonyms

Hs2st

MMRRC Submission

045016-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.688) question?

Stock #

R6262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144135467-144275942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144140374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 316 (F316L)

Ref Sequence

ENSEMBL: ENSMUSP00000043066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043325]

AlphaFold

Q8R3H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000043325
AA Change: F316L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043066
Gene: ENSMUSG00000040151
AA Change: F316L

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
Pfam:Sulfotransfer_2	66	327	9.1e-44	PFAM

Meta Mutation Damage Score

0.3147

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: A mutation in this gene causes bilateral renal agenesis, bone defects, eye development abnormalities and cataracts in homozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,092,917 (GRCm39)	T289I	probably benign	Het
Abca2	T	C	2: 25,334,922 (GRCm39)	Y1965H	possibly damaging	Het
Adam26a	T	C	8: 44,022,125 (GRCm39)	N455S	possibly damaging	Het
Art5	C	T	7: 101,747,338 (GRCm39)	G147D	probably benign	Het
Atp5f1a	G	A	18: 77,868,912 (GRCm39)	V429M	probably damaging	Het
Calr4	A	T	4: 109,108,564 (GRCm39)	N213I	probably damaging	Het
Cchcr1	T	C	17: 35,841,413 (GRCm39)	S810P	probably benign	Het
Cdh4	A	T	2: 179,439,419 (GRCm39)	R189W	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,606 (GRCm39)	D84G	probably benign	Het
Clasp2	T	A	9: 113,705,420 (GRCm39)		probably null	Het
Cntnap2	T	A	6: 45,037,046 (GRCm39)		probably null	Het
Cntnap4	T	C	8: 113,529,843 (GRCm39)	Y684H	probably damaging	Het
Cyp2a4	T	A	7: 26,011,655 (GRCm39)	V292E	probably damaging	Het
Dap	A	G	15: 31,235,960 (GRCm39)	T10A	probably benign	Het
Dnah11	G	A	12: 117,894,913 (GRCm39)	R3645C	probably damaging	Het
Dnah9	A	T	11: 65,772,631 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,784,579 (GRCm39)	M2787K	probably benign	Het
Efr3a	T	C	15: 65,729,323 (GRCm39)	S675P	possibly damaging	Het
Gria1	A	G	11: 57,133,680 (GRCm39)	K451E	probably damaging	Het
Grin3b	A	T	10: 79,810,203 (GRCm39)	M570L	probably benign	Het
Hs6st3	A	G	14: 119,376,403 (GRCm39)	T193A	possibly damaging	Het
Hspg2	A	T	4: 137,246,997 (GRCm39)	D1108V	probably damaging	Het
Igf1r	T	A	7: 67,653,720 (GRCm39)	L86Q	probably damaging	Het
Inpp5j	A	G	11: 3,452,615 (GRCm39)	S212P	probably benign	Het
Junb	A	G	8: 85,704,359 (GRCm39)	S234P	possibly damaging	Het
Lhx3	GTGTTGT	GTGT	2: 26,092,435 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,366,983 (GRCm39)	S1028P	possibly damaging	Het
Met	C	A	6: 17,553,403 (GRCm39)	A1063E	probably benign	Het
Mink1	T	C	11: 70,494,151 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,552 (GRCm39)	E1621G	possibly damaging	Het
Mug2	T	C	6: 122,052,214 (GRCm39)	Y991H	probably damaging	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nkx6-3	T	C	8: 23,643,863 (GRCm39)	V88A	probably benign	Het
Nr3c2	A	G	8: 77,635,262 (GRCm39)	Q121R	possibly damaging	Het
Nup155	T	C	15: 8,186,225 (GRCm39)	V1329A	probably benign	Het
Or2d36	T	C	7: 106,746,918 (GRCm39)	Y132H	probably damaging	Het
Or5d35	T	C	2: 87,855,738 (GRCm39)	V224A	probably benign	Het
Pcdhb17	T	A	18: 37,619,751 (GRCm39)	F514I	probably damaging	Het
Pfkl	A	G	10: 77,824,507 (GRCm39)		probably null	Het
Prl8a1	A	T	13: 27,758,126 (GRCm39)	H194Q	possibly damaging	Het
Sh3tc1	C	G	5: 35,857,117 (GRCm39)	E1241Q	probably damaging	Het
Slc6a6	A	T	6: 91,732,013 (GRCm39)	H614L	possibly damaging	Het
Sort1	A	G	3: 108,217,527 (GRCm39)	Y143C	probably damaging	Het
Stat4	T	A	1: 52,141,360 (GRCm39)	W569R	probably null	Het
Taco1	A	T	11: 105,962,693 (GRCm39)	K127*	probably null	Het
Tas2r110	T	C	6: 132,845,638 (GRCm39)	I223T	probably damaging	Het
Tex21	A	G	12: 76,259,306 (GRCm39)	I329T	probably damaging	Het
Tmprss11b	T	C	5: 86,810,119 (GRCm39)	H287R	probably benign	Het
Trim30a	A	G	7: 104,060,741 (GRCm39)	L345P	probably benign	Het
Vmn1r62	G	A	7: 5,678,556 (GRCm39)	C79Y	probably damaging	Het
Vmn2r116	A	G	17: 23,606,351 (GRCm39)	K421R	probably benign	Het
Vwde	C	T	6: 13,205,020 (GRCm39)	S287N	probably damaging	Het
Xrcc4	A	T	13: 89,926,906 (GRCm39)	M300K	probably benign	Het
Zan	A	T	5: 137,427,747 (GRCm39)		probably null	Het
Zbtb7c	A	G	18: 76,270,413 (GRCm39)	D167G	probably benign	Het
Zfc3h1	A	G	10: 115,249,881 (GRCm39)	Y1165C	probably damaging	Het
Zfp326	T	A	5: 106,036,353 (GRCm39)	L88Q	probably damaging	Het
Zfp667	A	G	7: 6,307,973 (GRCm39)	T214A	probably benign	Het

Other mutations in Hs2st1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0037:Hs2st1	UTSW	3	144,143,405 (GRCm39)	nonsense	probably null
R1215:Hs2st1	UTSW	3	144,170,902 (GRCm39)	missense	possibly damaging	0.75
R1450:Hs2st1	UTSW	3	144,140,479 (GRCm39)	splice site	probably benign
R1474:Hs2st1	UTSW	3	144,141,256 (GRCm39)	missense	possibly damaging	0.94
R1505:Hs2st1	UTSW	3	144,140,322 (GRCm39)	missense	probably benign	0.19
R1695:Hs2st1	UTSW	3	144,140,415 (GRCm39)	missense	probably benign	0.00
R2511:Hs2st1	UTSW	3	144,275,691 (GRCm39)	unclassified	probably benign
R2967:Hs2st1	UTSW	3	144,170,899 (GRCm39)	missense	probably damaging	1.00
R3928:Hs2st1	UTSW	3	144,140,389 (GRCm39)	missense	possibly damaging	0.55
R4895:Hs2st1	UTSW	3	144,171,014 (GRCm39)	missense	probably benign
R4911:Hs2st1	UTSW	3	144,170,843 (GRCm39)	missense	probably benign	0.23
R5477:Hs2st1	UTSW	3	144,262,709 (GRCm39)	critical splice donor site	probably benign
R5666:Hs2st1	UTSW	3	144,275,554 (GRCm39)	missense	probably damaging	0.97
R7230:Hs2st1	UTSW	3	144,140,307 (GRCm39)	missense	probably benign
R7372:Hs2st1	UTSW	3	144,141,221 (GRCm39)	critical splice donor site	probably null
R7492:Hs2st1	UTSW	3	144,141,357 (GRCm39)	missense	probably benign	0.01
R7720:Hs2st1	UTSW	3	144,159,783 (GRCm39)	missense	probably damaging	1.00
R8309:Hs2st1	UTSW	3	144,143,365 (GRCm39)	missense	possibly damaging	0.74
R8497:Hs2st1	UTSW	3	144,140,452 (GRCm39)	missense	probably damaging	1.00
X0019:Hs2st1	UTSW	3	144,159,773 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGTGACACAGTCAAGTTCCG -3'
(R):5'- AGGGTAATGTGTTACTTGCCCTTC -3'

Sequencing Primer
(F):5'- ACAGTCAAGTTCCGGGGCAG -3'
(R):5'- CCACTTCTTCAAGTAAAGAGGCATG -3'

Posted On

2018-03-15