Mutagenetix > Incidental Mutation

Incidental Mutation 'R7372:Hs2st1'

572143

Institutional Source

Beutler Lab

Gene Symbol

Hs2st1

Ensembl Gene

ENSMUSG00000040151

Gene Name

heparan sulfate 2-O-sulfotransferase 1

Synonyms

Hs2st

MMRRC Submission

045455-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.688) question?

Stock #

R7372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144135467-144275942 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 144141221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043066 (fasta)

Gene Model

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

AlphaFold

Q8R3H7

Predicted Effect

probably null
Transcript: ENSMUST00000043325

SMART Domains

Protein: ENSMUSP00000043066
Gene: ENSMUSG00000040151

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

0.9502

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	G	A	1: 156,450,189 (GRCm39)	V119M	probably damaging	Het
Acss2	T	C	2: 155,399,100 (GRCm39)	V454A	probably damaging	Het
Adam6b	T	A	12: 113,453,784 (GRCm39)	D200E	probably benign	Het
Adarb1	T	A	10: 77,131,712 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Atrnl1	T	C	19: 57,924,078 (GRCm39)	V1281A	possibly damaging	Het
Brdt	A	G	5: 107,518,160 (GRCm39)	E761G	possibly damaging	Het
Bsn	A	T	9: 107,987,718 (GRCm39)	I2678N	unknown	Het
C2cd2	A	T	16: 97,676,580 (GRCm39)	C136S		Het
Camk4	A	G	18: 33,318,178 (GRCm39)	D445G	probably benign	Het
Cckar	T	C	5: 53,864,624 (GRCm39)	T26A	probably damaging	Het
Cd209a	T	A	8: 3,798,857 (GRCm39)		probably null	Het
Cept1	A	G	3: 106,411,056 (GRCm39)	F379S	probably benign	Het
Crhr1	A	G	11: 104,054,719 (GRCm39)		probably null	Het
Cryzl1	T	C	16: 91,509,085 (GRCm39)	E72G	probably benign	Het
Ctnnal1	T	A	4: 56,826,285 (GRCm39)	E526V	possibly damaging	Het
Cyp3a41a	T	C	5: 145,650,374 (GRCm39)	I90V	possibly damaging	Het
Dek	T	C	13: 47,259,053 (GRCm39)	E51G	unknown	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Evc2	T	A	5: 37,544,477 (GRCm39)	V742E	probably damaging	Het
Fat4	G	A	3: 38,944,358 (GRCm39)	V1084M	probably damaging	Het
Fscb	G	A	12: 64,518,598 (GRCm39)	T956I	unknown	Het
Glipr2	T	C	4: 43,968,184 (GRCm39)	L29P	probably damaging	Het
Gm19402	A	T	10: 77,526,261 (GRCm39)	S111T	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,738,843 (GRCm39)	K115E	probably benign	Het
Gpn1	T	A	5: 31,658,465 (GRCm39)	F147I	probably damaging	Het
Gsdmd	T	A	15: 75,737,618 (GRCm39)	L232H	probably benign	Het
Helz2	A	G	2: 180,880,216 (GRCm39)	V500A	possibly damaging	Het
Hemk1	T	C	9: 107,214,267 (GRCm39)	E55G	probably benign	Het
Ighv1-63	A	G	12: 115,459,486 (GRCm39)	V37A	probably damaging	Het
Iqsec3	C	A	6: 121,360,991 (GRCm39)	E956*	probably null	Het
Kcnh8	T	A	17: 53,201,129 (GRCm39)	I521K	probably damaging	Het
Kif3c	T	A	12: 3,437,592 (GRCm39)	M531K	probably benign	Het
Kif5c	T	A	2: 49,648,671 (GRCm39)		probably null	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lcor	T	C	19: 41,573,945 (GRCm39)	L900P	probably damaging	Het
Lrrc32	A	G	7: 98,149,014 (GRCm39)	D598G	probably benign	Het
Mug2	T	C	6: 122,060,425 (GRCm39)	V1387A	possibly damaging	Het
Nin	T	A	12: 70,102,803 (GRCm39)	E275V		Het
Or5p68	A	G	7: 107,945,703 (GRCm39)	F162L	probably benign	Het
Papolg	A	G	11: 23,816,439 (GRCm39)	I698T	probably benign	Het
Pcdhb20	A	G	18: 37,639,840 (GRCm39)	N789D	probably benign	Het
Pik3cg	C	T	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnn	T	A	12: 59,115,765 (GRCm39)	D135E	probably damaging	Het
Pold1	C	A	7: 44,192,847 (GRCm39)	R5L	possibly damaging	Het
Prl8a1	A	T	13: 27,758,089 (GRCm39)	F207I	probably damaging	Het
Prr11	A	G	11: 86,989,600 (GRCm39)	V257A	probably benign	Het
Prtg	C	T	9: 72,758,848 (GRCm39)	R401*	probably null	Het
Rasgrp1	A	G	2: 117,115,635 (GRCm39)	M651T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Snx13	A	T	12: 35,128,950 (GRCm39)	I23L	probably benign	Het
Snx7	A	G	3: 117,576,000 (GRCm39)	L429P	probably damaging	Het
Spta1	C	T	1: 174,025,201 (GRCm39)	Q689*	probably null	Het
Spty2d1	T	C	7: 46,648,692 (GRCm39)	D79G	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,515 (GRCm39)		probably null	Het
Tnxb	T	C	17: 34,936,228 (GRCm39)	F2722L	possibly damaging	Het
Tppp2	C	T	14: 52,156,865 (GRCm39)	R81C	probably benign	Het
Trim6	G	T	7: 103,881,843 (GRCm39)	A391S	probably benign	Het
Trim69	A	C	2: 122,009,064 (GRCm39)	T375P	possibly damaging	Het
Trim72	A	G	7: 127,603,858 (GRCm39)	N68S	possibly damaging	Het
Trrap	G	A	5: 144,726,208 (GRCm39)	V386I	probably benign	Het
Ttn	T	C	2: 76,778,275 (GRCm39)	I1371V	unknown	Het
Usp17lb	A	T	7: 104,490,913 (GRCm39)		probably null	Het
Vmn2r20	A	T	6: 123,362,468 (GRCm39)	L772Q	probably damaging	Het
Ypel3	A	G	7: 126,379,200 (GRCm39)	E91G	probably benign	Het
Zbtb21	C	T	16: 97,751,569 (GRCm39)	E905K	possibly damaging	Het
Zfp189	T	A	4: 49,530,417 (GRCm39)	C507S	possibly damaging	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
R6262:Hs2st1	UTSW	3	144,140,374 (GRCm39)	missense	probably damaging	0.96
R7230:Hs2st1	UTSW	3	144,140,307 (GRCm39)	missense	probably benign
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'- TTGAGGTAAGCTGTCACACAAAAC -3'
(R):5'- TAGCAGATTTCGTGACCGAG -3'

Sequencing Primer
(F):5'- CATCAATATCGATGGACTCACAATGG -3'
(R):5'- AGATTTCGTGACCGAGTTTTATTCC -3'

Posted On

2019-09-13