Mutagenetix > Incidental Mutation

Incidental Mutation 'R3154:Hs6st3'

263428

Institutional Source

Beutler Lab

Gene Symbol

Hs6st3

Ensembl Gene

ENSMUSG00000053465

Gene Name

heparan sulfate 6-O-sulfotransferase 3

Synonyms

6OST3

MMRRC Submission

040605-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R3154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119375753-120107227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120106389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 266 (S266P)

Ref Sequence

ENSEMBL: ENSMUSP00000070394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065904]

AlphaFold

Q9QYK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000065904
AA Change: S266P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070394
Gene: ENSMUSG00000053465
AA Change: S266P

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	46	61	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	86	115	N/A	INTRINSIC
Pfam:Sulfotransfer_2	137	410	4.7e-83	PFAM
low complexity region	425	447	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,282,744 (GRCm39)	N200H	probably damaging	Het
Abca17	T	A	17: 24,547,720 (GRCm39)	D218V	probably damaging	Het
Ap1b1	T	C	11: 4,973,135 (GRCm39)	V326A	possibly damaging	Het
Bdp1	A	T	13: 100,186,322 (GRCm39)	V1710E	probably damaging	Het
Chrna3	C	T	9: 54,923,334 (GRCm39)	C158Y	probably damaging	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Cobll1	A	T	2: 64,937,394 (GRCm39)	M406K	probably benign	Het
Cyp2d34	T	C	15: 82,501,767 (GRCm39)	K248E	probably benign	Het
Dcdc2a	A	C	13: 25,286,340 (GRCm39)	I125L	probably benign	Het
Dgat1	G	A	15: 76,386,721 (GRCm39)	L439F	probably benign	Het
Disc1	T	A	8: 125,862,043 (GRCm39)	S472T	probably damaging	Het
Dnajb3	C	A	1: 88,132,773 (GRCm39)	V210F	probably benign	Het
Fancd2	A	G	6: 113,570,230 (GRCm39)	S1394G	possibly damaging	Het
Fasn	A	T	11: 120,698,765 (GRCm39)	L2475Q	probably damaging	Het
Fn1	A	T	1: 71,632,242 (GRCm39)	C2335S	probably damaging	Het
Gpld1	T	C	13: 25,127,603 (GRCm39)	S2P	unknown	Het
Gpld1	G	T	13: 25,140,146 (GRCm39)		probably null	Het
Gsc2	G	A	16: 17,732,364 (GRCm39)	R137W	probably damaging	Het
Gsdme	T	C	6: 50,228,343 (GRCm39)	R42G	probably damaging	Het
Gtf3c5	T	C	2: 28,469,548 (GRCm39)	T119A	probably damaging	Het
Htr2a	T	C	14: 74,943,262 (GRCm39)	F281L	probably benign	Het
Hus1b	T	C	13: 31,131,236 (GRCm39)	K141R	probably benign	Het
Ireb2	T	C	9: 54,793,230 (GRCm39)		probably null	Het
Klhdc7a	T	A	4: 139,693,024 (GRCm39)	Y641F	probably benign	Het
Kri1	T	C	9: 21,193,190 (GRCm39)	E57G	possibly damaging	Het
Map4	A	G	9: 109,828,860 (GRCm39)	T82A	probably benign	Het
Mthfr	T	G	4: 148,136,061 (GRCm39)	M353R	probably benign	Het
Mtus2	A	G	5: 148,240,083 (GRCm39)		probably benign	Het
Muc5ac	T	A	7: 141,346,473 (GRCm39)		probably null	Het
Myo15a	T	A	11: 60,370,186 (GRCm39)		probably null	Het
Nynrin	A	T	14: 56,101,044 (GRCm39)	Q278L	possibly damaging	Het
Pced1b	T	G	15: 97,282,423 (GRCm39)		probably null	Het
Penk	T	C	4: 4,134,152 (GRCm39)	D165G	probably damaging	Het
Pfkm	T	A	15: 98,016,090 (GRCm39)	V90D	probably damaging	Het
Pgk2	T	A	17: 40,519,134 (GRCm39)	D98V	probably damaging	Het
Psg28	C	A	7: 18,160,348 (GRCm39)	A283S	possibly damaging	Het
Rgl3	A	G	9: 21,892,070 (GRCm39)	L338P	probably damaging	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Ros1	T	C	10: 51,927,077 (GRCm39)	H2181R	probably benign	Het
Slc38a11	C	T	2: 65,160,679 (GRCm39)	C305Y	probably damaging	Het
Speg	T	A	1: 75,378,186 (GRCm39)	V798E	probably damaging	Het
Spesp1	G	A	9: 62,189,376 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,286,975 (GRCm39)	Y84*	probably null	Het
Syt2	T	C	1: 134,669,599 (GRCm39)	L80P	possibly damaging	Het
Tra2a	C	T	6: 49,222,446 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,182,580 (GRCm39)	C149S	probably damaging	Het
Vmn2r38	T	C	7: 9,097,689 (GRCm39)	T135A	probably benign	Het
Wipf1	A	G	2: 73,267,834 (GRCm39)	V188A	possibly damaging	Het
Yipf2	G	A	9: 21,501,197 (GRCm39)	A67V	probably benign	Het
Zfp759	A	G	13: 67,286,719 (GRCm39)	E96G	probably benign	Het
Zic3	G	A	X: 57,076,838 (GRCm39)	V100M	possibly damaging	Het

Other mutations in Hs6st3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Hs6st3	APN	14	119,376,446 (GRCm39)	missense	probably damaging	1.00
IGL00973:Hs6st3	APN	14	120,106,819 (GRCm39)	missense	possibly damaging	0.58
IGL02185:Hs6st3	APN	14	120,106,296 (GRCm39)	critical splice acceptor site	probably null
IGL02696:Hs6st3	APN	14	120,106,731 (GRCm39)	missense	probably damaging	0.98
IGL02820:Hs6st3	APN	14	119,376,492 (GRCm39)	missense	possibly damaging	0.95
R0241:Hs6st3	UTSW	14	119,376,232 (GRCm39)	missense	probably benign	0.32
R0241:Hs6st3	UTSW	14	119,376,232 (GRCm39)	missense	probably benign	0.32
R0634:Hs6st3	UTSW	14	120,106,474 (GRCm39)	nonsense	probably null
R0737:Hs6st3	UTSW	14	120,106,795 (GRCm39)	missense	possibly damaging	0.82
R0750:Hs6st3	UTSW	14	119,376,119 (GRCm39)	small deletion	probably benign
R1975:Hs6st3	UTSW	14	119,375,888 (GRCm39)	missense	probably benign	0.33
R1977:Hs6st3	UTSW	14	119,375,888 (GRCm39)	missense	probably benign	0.33
R2025:Hs6st3	UTSW	14	120,106,801 (GRCm39)	missense	probably damaging	1.00
R2116:Hs6st3	UTSW	14	120,106,699 (GRCm39)	missense	probably damaging	1.00
R2295:Hs6st3	UTSW	14	119,375,857 (GRCm39)	missense	probably benign	0.15
R5700:Hs6st3	UTSW	14	119,376,199 (GRCm39)	nonsense	probably null
R5744:Hs6st3	UTSW	14	119,375,852 (GRCm39)	missense	possibly damaging	0.96
R5852:Hs6st3	UTSW	14	120,106,738 (GRCm39)	missense	probably damaging	1.00
R5861:Hs6st3	UTSW	14	119,376,265 (GRCm39)	missense	possibly damaging	0.89
R6262:Hs6st3	UTSW	14	119,376,403 (GRCm39)	missense	possibly damaging	0.95
R6408:Hs6st3	UTSW	14	119,376,046 (GRCm39)	missense	probably benign	0.44
R7140:Hs6st3	UTSW	14	119,376,514 (GRCm39)	missense	probably damaging	1.00
R7598:Hs6st3	UTSW	14	120,106,750 (GRCm39)	missense	probably damaging	1.00
R7954:Hs6st3	UTSW	14	120,106,522 (GRCm39)	missense	probably damaging	0.97
R8026:Hs6st3	UTSW	14	120,106,968 (GRCm39)	missense	probably damaging	0.99
R9471:Hs6st3	UTSW	14	119,376,235 (GRCm39)	missense	probably damaging	0.99
R9746:Hs6st3	UTSW	14	120,106,492 (GRCm39)	missense	probably damaging	1.00
R9773:Hs6st3	UTSW	14	120,106,948 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TATCCAGACTAAGTGCGGAGG -3'
(R):5'- TCAAGTTGTAGCAGCCCACC -3'

Sequencing Primer
(F):5'- AATGGAGGATTCACTTGGCTCCC -3'
(R):5'- CACCAGGCTGAGGTCGG -3'

Posted On

2015-02-05