Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Hs2st1'

595163

Institutional Source

Beutler Lab

Gene Symbol

Hs2st1

Ensembl Gene

ENSMUSG00000040151

Gene Name

heparan sulfate 2-O-sulfotransferase 1

Synonyms

Hs2st

MMRRC Submission

067892-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144135467-144275942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144159783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 127 (N127D)

Ref Sequence

ENSEMBL: ENSMUSP00000043066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043325] [ENSMUST00000160690]

AlphaFold

Q8R3H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000043325
AA Change: N127D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043066
Gene: ENSMUSG00000040151
AA Change: N127D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160690

SMART Domains

Protein: ENSMUSP00000123816
Gene: ENSMUSG00000040151

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC

Meta Mutation Damage Score

0.8275

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,926,957 (GRCm39)	D1018G	probably damaging	Het
Atm	T	C	9: 53,433,539 (GRCm39)	N237S	possibly damaging	Het
Card6	G	T	15: 5,127,905 (GRCm39)	Q1164K	unknown	Het
Ccdc202	A	G	14: 96,119,548 (GRCm39)	R102G	probably benign	Het
Cped1	G	A	6: 22,222,430 (GRCm39)	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,981,108 (GRCm39)	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,517,072 (GRCm39)	T87A	probably damaging	Het
Dock4	T	C	12: 40,856,974 (GRCm39)	I1269T	probably damaging	Het
F11	T	C	8: 45,705,127 (GRCm39)	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,177,974 (GRCm39)	S342P	probably damaging	Het
Garin2	T	C	12: 78,758,907 (GRCm39)	S76P	probably damaging	Het
Gipr	T	C	7: 18,896,884 (GRCm39)	I129V	probably benign	Het
Gria4	A	T	9: 4,464,288 (GRCm39)	V558D	probably damaging	Het
Gsdme	C	T	6: 50,206,288 (GRCm39)	G185E	probably damaging	Het
Hapstr1	T	A	16: 8,660,966 (GRCm39)	C148S	probably damaging	Het
Hgd	T	A	16: 37,413,797 (GRCm39)	D86E	probably benign	Het
Hmcn1	T	A	1: 150,522,460 (GRCm39)	H3480L	probably benign	Het
Ilf3	A	G	9: 21,310,833 (GRCm39)	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,664,971 (GRCm39)	G1132R	unknown	Het
Jakmip2	A	G	18: 43,704,973 (GRCm39)	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,266,812 (GRCm39)	V1670A	probably benign	Het
Lman2	A	T	13: 55,500,890 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,692,119 (GRCm39)	Y1579F	probably damaging	Het
Mon2	G	A	10: 122,868,493 (GRCm39)	A520V	probably benign	Het
Mrpl10	T	G	11: 96,938,363 (GRCm39)	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,537,838 (GRCm39)	T153S	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nlrp10	A	G	7: 108,523,695 (GRCm39)	V595A	probably benign	Het
Nol4	A	T	18: 23,173,080 (GRCm39)	M7K	probably benign	Het
Oasl1	G	A	5: 115,067,980 (GRCm39)	S188N	probably damaging	Het
Or2d3c	C	A	7: 106,526,618 (GRCm39)	G16V	probably benign	Het
Or5h25	T	C	16: 58,930,134 (GRCm39)	I280V	probably benign	Het
Pcdhga2	A	G	18: 37,802,993 (GRCm39)	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,406,538 (GRCm39)	A263V	probably benign	Het
Phf3	T	G	1: 30,868,938 (GRCm39)	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,490,367 (GRCm39)	P5A	probably damaging	Het
Plekha6	T	C	1: 133,221,445 (GRCm39)	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,596,250 (GRCm39)	I305N	probably damaging	Het
Prex2	A	G	1: 11,252,161 (GRCm39)	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,690,403 (GRCm39)	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703 (GRCm38)	N995S	probably benign	Het
Robo2	C	A	16: 73,693,903 (GRCm39)	G1375V	probably benign	Het
Rtl1	T	C	12: 109,560,864 (GRCm39)	Y325C	possibly damaging	Het
Semp2l1	T	C	1: 32,585,178 (GRCm39)	D244G	probably benign	Het
Shcbp1	A	C	8: 4,798,720 (GRCm39)	S400A	probably damaging	Het
Shfl	C	T	9: 20,780,155 (GRCm39)		probably benign	Het
Sirpb1c	T	A	3: 15,886,236 (GRCm39)	Y380F	probably benign	Het
Tbl2	G	C	5: 135,188,329 (GRCm39)	L374F	probably damaging	Het
Tpr	C	A	1: 150,305,283 (GRCm39)	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Vps16	C	T	2: 130,283,623 (GRCm39)	Q606*	probably null	Het
Vstm5	A	T	9: 15,150,652 (GRCm39)	Q29L	probably benign	Het
Wipi1	G	T	11: 109,473,249 (GRCm39)	S250Y	probably 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
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
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'- TCGAGACGTGTCCTTTTATGACC -3'
(R):5'- GTTCAGACTCCACTGACTGC -3'

Sequencing Primer
(F):5'- GACGTGTCCTTTTATGACCACTAGAG -3'
(R):5'- GACTGCTCTTACTTCAAACTGG -3'

Posted On

2019-11-12