Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01606:Sulf1'

93434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sulf1

Ensembl Gene

ENSMUSG00000016918

Gene Name

sulfatase 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

IGL01606

Quality Score

Status

Chromosome

Chromosomal Location

12692277-12861192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12836204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 490 (R490L)

Ref Sequence

ENSEMBL: ENSMUSP00000141153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088585] [ENSMUST00000177608] [ENSMUST00000180062] [ENSMUST00000186051]

AlphaFold

Q8K007

Predicted Effect

probably benign
Transcript: ENSMUST00000088585
AA Change: R490L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: R490L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Sulfatase	43	374	7.7e-59	PFAM
Pfam:Phosphodiest	61	323	9.2e-11	PFAM
low complexity region	512	523	N/A	INTRINSIC
Pfam:DUF3740	533	679	5e-52	PFAM
low complexity region	717	737	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177608
AA Change: R490L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: R490L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Sulfatase	43	374	7.7e-59	PFAM
low complexity region	512	523	N/A	INTRINSIC
Pfam:DUF3740	534	678	9.7e-52	PFAM
low complexity region	717	737	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180062
AA Change: R490L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: R490L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Sulfatase	43	374	7.7e-59	PFAM
Pfam:Phosphodiest	61	323	9.2e-11	PFAM
low complexity region	512	523	N/A	INTRINSIC
Pfam:DUF3740	533	679	5e-52	PFAM
low complexity region	717	737	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186051
AA Change: R490L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: R490L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sulfatase	43	374	7.4e-56	PFAM
Pfam:Phosphodiest	61	323	9.6e-8	PFAM
low complexity region	512	523	N/A	INTRINSIC
Pfam:DUF3740	533	679	1.1e-48	PFAM
low complexity region	717	737	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189447

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a null allele display a slight increase in mortality early in life. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	G	17: 14,943,863	D84G	probably damaging	Het
Adat3	A	T	10: 80,607,338	I337F	probably damaging	Het
Carmil3	T	A	14: 55,493,849	N128K	possibly damaging	Het
Ceacam2	T	C	7: 25,530,707	E158G	possibly damaging	Het
Cel	T	C	2: 28,560,564	I150V	probably benign	Het
Chd5	A	G	4: 152,360,975	H441R	probably damaging	Het
Clic5	G	T	17: 44,248,746	R109L	probably benign	Het
Cpd	T	C	11: 76,812,640	M466V	probably benign	Het
Cyp39a1	T	A	17: 43,746,618		probably benign	Het
Dnah11	C	A	12: 117,983,032	A3106S	probably benign	Het
Fasn	A	C	11: 120,809,023		probably null	Het
Fat1	G	A	8: 45,023,049	V1688I	probably benign	Het
Fibcd1	A	G	2: 31,833,853	I258T	probably benign	Het
Frem2	C	A	3: 53,653,591	R1165I	possibly damaging	Het
Gm5627	C	T	9: 102,749,486		noncoding transcript	Het
Gm5862	T	A	5: 26,019,516	T152S	probably benign	Het
Gnb3	T	A	6: 124,837,255	D154V	probably damaging	Het
Ighv1-14	T	C	12: 114,646,837		noncoding transcript	Het
Klrb1	C	A	6: 128,723,005	E14D	probably benign	Het
Osbpl1a	A	T	18: 12,756,214	D556E	possibly damaging	Het
Pkd1	T	C	17: 24,576,523	V2330A	probably damaging	Het
Pkdrej	T	C	15: 85,817,700	K1345R	possibly damaging	Het
Plxna4	A	G	6: 32,158,001	F1756L	probably damaging	Het
Psg28	A	C	7: 18,430,371	S139A	probably benign	Het
Ptpru	A	T	4: 131,808,481	I395N	possibly damaging	Het
Reps1	A	G	10: 18,107,687	E426G	probably damaging	Het
Rtp4	T	A	16: 23,613,254	S179T	probably benign	Het
Sh3pxd2a	C	A	19: 47,268,596	R561L	probably benign	Het
Slc29a2	T	A	19: 5,027,439	L215Q	possibly damaging	Het
Slc44a4	T	C	17: 34,929,018	F653L	probably damaging	Het
Ttll4	T	C	1: 74,685,893	L602P	probably damaging	Het
Ttn	A	G	2: 76,776,790	V17963A	probably damaging	Het
Urb1	A	G	16: 90,760,459	S1760P	probably damaging	Het
Zmynd11	G	A	13: 9,697,688	R149W	probably damaging	Het

Other mutations in Sulf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Sulf1	APN	1	12820463	missense	probably damaging	0.99
IGL00788:Sulf1	APN	1	12848449	missense	probably damaging	0.99
IGL00845:Sulf1	APN	1	12796967	missense	probably damaging	1.00
IGL01963:Sulf1	APN	1	12818507	missense	probably damaging	1.00
IGL01968:Sulf1	APN	1	12818451	missense	probably damaging	1.00
IGL02072:Sulf1	APN	1	12848208	missense	probably damaging	1.00
IGL02424:Sulf1	APN	1	12796840	missense	probably benign	0.28
IGL02519:Sulf1	APN	1	12838363	nonsense	probably null
IGL02601:Sulf1	APN	1	12786645	missense	probably damaging	1.00
IGL03066:Sulf1	APN	1	12807944	missense	probably damaging	0.99
IGL03200:Sulf1	APN	1	12786617	nonsense	probably null
PIT4480001:Sulf1	UTSW	1	12859413	missense	probably benign	0.01
PIT4519001:Sulf1	UTSW	1	12848171	missense	probably damaging	1.00
R0083:Sulf1	UTSW	1	12817417	missense	probably damaging	0.99
R0467:Sulf1	UTSW	1	12796920	missense	probably damaging	1.00
R0554:Sulf1	UTSW	1	12805194	missense	probably damaging	1.00
R0626:Sulf1	UTSW	1	12817492	splice site	probably null
R1083:Sulf1	UTSW	1	12836164	frame shift	probably null
R1084:Sulf1	UTSW	1	12836164	frame shift	probably null
R1498:Sulf1	UTSW	1	12848350	missense	probably damaging	1.00
R1523:Sulf1	UTSW	1	12817350	nonsense	probably null
R1854:Sulf1	UTSW	1	12838437	missense	probably benign	0.06
R1942:Sulf1	UTSW	1	12848173	missense	probably damaging	1.00
R1946:Sulf1	UTSW	1	12796907	missense	probably benign	0.04
R1998:Sulf1	UTSW	1	12858834	nonsense	probably null
R2034:Sulf1	UTSW	1	12820421	missense	probably damaging	1.00
R2068:Sulf1	UTSW	1	12840403	missense	probably damaging	1.00
R2113:Sulf1	UTSW	1	12848174	missense	probably damaging	0.99
R2277:Sulf1	UTSW	1	12796794	missense	probably benign	0.41
R3827:Sulf1	UTSW	1	12817432	missense	probably benign
R3874:Sulf1	UTSW	1	12817412	missense	probably damaging	1.00
R4488:Sulf1	UTSW	1	12786515	start gained	probably benign
R4619:Sulf1	UTSW	1	12786652	missense	probably damaging	1.00
R4743:Sulf1	UTSW	1	12836293	missense	probably benign	0.04
R4836:Sulf1	UTSW	1	12842686	missense	probably benign	0.02
R4918:Sulf1	UTSW	1	12818496	missense	probably damaging	1.00
R4958:Sulf1	UTSW	1	12796910	missense	probably benign	0.08
R5216:Sulf1	UTSW	1	12796874	missense	probably benign	0.28
R5225:Sulf1	UTSW	1	12841478	missense	probably benign
R5427:Sulf1	UTSW	1	12796912	missense	possibly damaging	0.84
R5450:Sulf1	UTSW	1	12796907	missense	probably benign	0.04
R5909:Sulf1	UTSW	1	12858815	missense	possibly damaging	0.94
R5912:Sulf1	UTSW	1	12786752	unclassified	probably benign
R5966:Sulf1	UTSW	1	12859412	missense	probably benign	0.06
R6339:Sulf1	UTSW	1	12838440	missense	probably damaging	1.00
R6841:Sulf1	UTSW	1	12838434	missense	probably damaging	1.00
R6880:Sulf1	UTSW	1	12842755	missense	probably damaging	1.00
R7110:Sulf1	UTSW	1	12838601	missense	probably damaging	1.00
R7255:Sulf1	UTSW	1	12859008	missense	probably benign	0.00
R7275:Sulf1	UTSW	1	12850965	splice site	probably null
R7386:Sulf1	UTSW	1	12838361	missense	probably benign	0.07
R7611:Sulf1	UTSW	1	12836243	missense	probably benign
R7732:Sulf1	UTSW	1	12842789	missense	probably benign	0.11
R7796:Sulf1	UTSW	1	12858820	missense	probably benign	0.27
R7898:Sulf1	UTSW	1	12805294	missense	probably damaging	1.00
R7984:Sulf1	UTSW	1	12859273	missense	probably benign	0.00
R8003:Sulf1	UTSW	1	12838601	missense	probably damaging	1.00
R8684:Sulf1	UTSW	1	12796780	missense	probably benign	0.06
R8714:Sulf1	UTSW	1	12807917	missense	probably benign	0.07
R8723:Sulf1	UTSW	1	12786687	missense	probably damaging	1.00
R8988:Sulf1	UTSW	1	12836275	missense	probably benign
R9055:Sulf1	UTSW	1	12807963	missense	probably damaging	1.00
R9100:Sulf1	UTSW	1	12807894	missense	probably damaging	1.00
R9288:Sulf1	UTSW	1	12786603	missense	probably benign	0.09
R9358:Sulf1	UTSW	1	12820505	missense	probably damaging	1.00
R9387:Sulf1	UTSW	1	12838554	missense	probably benign	0.02
R9462:Sulf1	UTSW	1	12859235	missense	probably damaging	1.00
R9524:Sulf1	UTSW	1	12848398	missense	probably damaging	1.00
R9581:Sulf1	UTSW	1	12805254	missense	not run

Posted On

2013-12-09