Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02696:Hs6st3'

303941

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hs6st3

Ensembl Gene

ENSMUSG00000053465

Gene Name

heparan sulfate 6-O-sulfotransferase 3

Synonyms

6OST3

Accession Numbers

Essential gene?

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

Stock #

IGL02696

Quality Score

Status

Chromosome

Chromosomal Location

119375753-120107227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120106731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 380 (I380F)

Ref Sequence

ENSEMBL: ENSMUSP00000070394 (fasta)

Gene Model

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

AlphaFold

Q9QYK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000065904
AA Change: I380F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070394
Gene: ENSMUSG00000053465
AA Change: I380F

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,704,628 (GRCm39)	T43A	probably benign	Het
Adgrd1	T	C	5: 129,217,918 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,242,115 (GRCm39)	Y888*	probably null	Het
Atp8b5	T	C	4: 43,369,634 (GRCm39)	V924A	possibly damaging	Het
AU040320	T	C	4: 126,736,380 (GRCm39)	L821P	probably damaging	Het
Capn11	T	C	17: 45,943,635 (GRCm39)	N596S	probably damaging	Het
Cnot1	C	A	8: 96,471,645 (GRCm39)	V1219F	probably benign	Het
Cope	T	C	8: 70,763,143 (GRCm39)		probably null	Het
Crim1	A	G	17: 78,587,402 (GRCm39)	E169G	probably damaging	Het
Csmd3	A	T	15: 47,533,065 (GRCm39)	F2395I	probably benign	Het
Ctso	A	C	3: 81,858,691 (GRCm39)	D220A	possibly damaging	Het
Cttnbp2	G	A	6: 18,434,128 (GRCm39)	P577S	probably benign	Het
D930048N14Rik	T	A	11: 51,544,821 (GRCm39)		probably benign	Het
Dck	T	A	5: 88,920,666 (GRCm39)	S129T	probably damaging	Het
Dlc1	A	G	8: 37,041,326 (GRCm39)	V1301A	possibly damaging	Het
Dusp16	G	A	6: 134,695,398 (GRCm39)	R478C	probably damaging	Het
Ermap	C	T	4: 119,044,904 (GRCm39)	R49K	possibly damaging	Het
Flnc	A	G	6: 29,446,697 (GRCm39)	K969R	probably damaging	Het
Gjb2	A	T	14: 57,337,769 (GRCm39)	F146L	probably damaging	Het
Hdc	A	T	2: 126,436,220 (GRCm39)	D550E	probably damaging	Het
Htr1d	T	C	4: 136,170,722 (GRCm39)	V317A	probably benign	Het
Kalrn	A	T	16: 34,040,484 (GRCm39)	M963K	probably damaging	Het
Kl	T	A	5: 150,904,450 (GRCm39)	S401T	probably benign	Het
Lair1	A	G	7: 4,013,848 (GRCm39)		probably benign	Het
Lrp5	C	T	19: 3,652,253 (GRCm39)	V1206I	probably benign	Het
Matn4	A	G	2: 164,238,758 (GRCm39)	F343S	probably benign	Het
Mrgpra4	G	T	7: 47,631,251 (GRCm39)	R117S	possibly damaging	Het
Myh14	T	C	7: 44,314,530 (GRCm39)	Y131C	probably damaging	Het
Nap1l4	A	T	7: 143,077,898 (GRCm39)	N345K	possibly damaging	Het
Oas1c	T	C	5: 120,943,528 (GRCm39)	R204G	probably benign	Het
Or52e4	A	G	7: 104,705,569 (GRCm39)	T39A	probably benign	Het
Or8k25	T	A	2: 86,243,959 (GRCm39)	T146S	probably benign	Het
Pakap	T	A	4: 57,854,663 (GRCm39)	D58E	probably damaging	Het
Pin1	G	A	9: 20,574,531 (GRCm39)	G150E	probably benign	Het
R3hdm2	T	C	10: 127,300,888 (GRCm39)		probably null	Het
Rai1	C	A	11: 60,084,782 (GRCm39)	H1843Q	probably benign	Het
Siae	G	T	9: 37,542,680 (GRCm39)	A194S	probably damaging	Het
Slc6a12	G	T	6: 121,340,211 (GRCm39)	V485L	probably benign	Het
Stil	T	G	4: 114,898,692 (GRCm39)	S1107R	probably damaging	Het
Syt16	T	C	12: 74,176,185 (GRCm39)	V18A	possibly damaging	Het
Trpm8	A	G	1: 88,275,773 (GRCm39)	D457G	probably damaging	Het
Tshr	A	T	12: 91,460,103 (GRCm39)	T66S	possibly damaging	Het
Ttn	T	A	2: 76,537,639 (GRCm39)	Q34763L	probably benign	Het
Ubr2	T	A	17: 47,274,691 (GRCm39)	M830L	probably benign	Het
Ulk1	A	G	5: 110,940,918 (GRCm39)	F337S	probably 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
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
R3154:Hs6st3	UTSW	14	120,106,389 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16