Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00788:Sulf1'

14298

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sulf1

Ensembl Gene

ENSMUSG00000016918

Gene Name

sulfatase 1

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.473) question?

Stock #

IGL00788

Quality Score

Status

Chromosome

Chromosomal Location

12762501-12931416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12918673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 99 (D99G)

Ref Sequence

ENSEMBL: ENSMUSP00000140517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088585] [ENSMUST00000177608] [ENSMUST00000180062] [ENSMUST00000185780] [ENSMUST00000186051]

AlphaFold

Q8K007

Predicted Effect

probably benign
Transcript: ENSMUST00000088585
AA Change: D848G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: D848G

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: D848G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: D848G

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: D848G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: D848G

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 damaging
Transcript: ENSMUST00000185780
AA Change: D99G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186051
AA Change: D848G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: D848G

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,110,480 (GRCm39)	E3061G	probably damaging	Het
Armh3	C	T	19: 45,920,789 (GRCm39)		probably null	Het
Casd1	A	G	6: 4,624,400 (GRCm39)	T398A	probably benign	Het
Ceacam2	C	T	7: 25,237,998 (GRCm39)		probably null	Het
Chst9	A	G	18: 15,586,087 (GRCm39)	Y159H	probably benign	Het
Cip2a	T	A	16: 48,829,432 (GRCm39)		probably benign	Het
Cops4	A	G	5: 100,681,421 (GRCm39)	E152G	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Dpy19l1	A	G	9: 24,373,864 (GRCm39)		probably benign	Het
Gbp8	T	A	5: 105,198,863 (GRCm39)	E17D	probably benign	Het
Grik5	G	A	7: 24,764,818 (GRCm39)	H108Y	probably damaging	Het
Gsap	G	A	5: 21,426,303 (GRCm39)		probably benign	Het
Gsap	G	A	5: 21,459,022 (GRCm39)	V496M	probably damaging	Het
Hectd1	C	T	12: 51,795,571 (GRCm39)	S2286N	probably damaging	Het
Hgf	A	T	5: 16,803,228 (GRCm39)	Q380L	probably damaging	Het
Hsd11b1	C	T	1: 192,923,766 (GRCm39)	M1I	probably null	Het
Kank2	A	G	9: 21,691,775 (GRCm39)		probably benign	Het
Klhl6	G	A	16: 19,775,812 (GRCm39)	L249F	probably benign	Het
Lrba	A	T	3: 86,234,992 (GRCm39)	M846L	probably damaging	Het
Macrod2	T	A	2: 142,052,069 (GRCm39)		probably benign	Het
Mroh9	A	T	1: 162,852,227 (GRCm39)	S821T	probably benign	Het
Myo5a	A	G	9: 75,076,241 (GRCm39)	T819A	probably benign	Het
Neb	A	T	2: 52,095,744 (GRCm39)		probably benign	Het
Pcyt1b	T	C	X: 92,778,515 (GRCm39)	F255L	probably benign	Het
Rttn	T	A	18: 88,990,633 (GRCm39)	S57T	probably benign	Het
Senp2	A	G	16: 21,837,114 (GRCm39)	D121G	probably damaging	Het
Slc25a21	A	T	12: 56,760,597 (GRCm39)		probably benign	Het
Sorbs1	A	G	19: 40,325,487 (GRCm39)		probably benign	Het
Spats2l	T	A	1: 57,924,864 (GRCm39)	N87K	probably damaging	Het
Sytl2	T	A	7: 90,031,906 (GRCm39)		probably benign	Het
Trim13	T	C	14: 61,843,119 (GRCm39)	F379L	probably benign	Het

Other mutations in Sulf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Sulf1	APN	1	12,890,687 (GRCm39)	missense	probably damaging	0.99
IGL00845:Sulf1	APN	1	12,867,191 (GRCm39)	missense	probably damaging	1.00
IGL01606:Sulf1	APN	1	12,906,428 (GRCm39)	missense	possibly damaging	0.87
IGL01963:Sulf1	APN	1	12,888,731 (GRCm39)	missense	probably damaging	1.00
IGL01968:Sulf1	APN	1	12,888,675 (GRCm39)	missense	probably damaging	1.00
IGL02072:Sulf1	APN	1	12,918,432 (GRCm39)	missense	probably damaging	1.00
IGL02424:Sulf1	APN	1	12,867,064 (GRCm39)	missense	probably benign	0.28
IGL02519:Sulf1	APN	1	12,908,587 (GRCm39)	nonsense	probably null
IGL02601:Sulf1	APN	1	12,856,869 (GRCm39)	missense	probably damaging	1.00
IGL03066:Sulf1	APN	1	12,878,168 (GRCm39)	missense	probably damaging	0.99
IGL03200:Sulf1	APN	1	12,856,841 (GRCm39)	nonsense	probably null
PIT4480001:Sulf1	UTSW	1	12,929,637 (GRCm39)	missense	probably benign	0.01
PIT4519001:Sulf1	UTSW	1	12,918,395 (GRCm39)	missense	probably damaging	1.00
R0083:Sulf1	UTSW	1	12,887,641 (GRCm39)	missense	probably damaging	0.99
R0467:Sulf1	UTSW	1	12,867,144 (GRCm39)	missense	probably damaging	1.00
R0554:Sulf1	UTSW	1	12,875,418 (GRCm39)	missense	probably damaging	1.00
R0626:Sulf1	UTSW	1	12,887,716 (GRCm39)	splice site	probably null
R1083:Sulf1	UTSW	1	12,906,388 (GRCm39)	frame shift	probably null
R1084:Sulf1	UTSW	1	12,906,388 (GRCm39)	frame shift	probably null
R1498:Sulf1	UTSW	1	12,918,574 (GRCm39)	missense	probably damaging	1.00
R1523:Sulf1	UTSW	1	12,887,574 (GRCm39)	nonsense	probably null
R1854:Sulf1	UTSW	1	12,908,661 (GRCm39)	missense	probably benign	0.06
R1942:Sulf1	UTSW	1	12,918,397 (GRCm39)	missense	probably damaging	1.00
R1946:Sulf1	UTSW	1	12,867,131 (GRCm39)	missense	probably benign	0.04
R1998:Sulf1	UTSW	1	12,929,058 (GRCm39)	nonsense	probably null
R2034:Sulf1	UTSW	1	12,890,645 (GRCm39)	missense	probably damaging	1.00
R2068:Sulf1	UTSW	1	12,910,627 (GRCm39)	missense	probably damaging	1.00
R2113:Sulf1	UTSW	1	12,918,398 (GRCm39)	missense	probably damaging	0.99
R2277:Sulf1	UTSW	1	12,867,018 (GRCm39)	missense	probably benign	0.41
R3827:Sulf1	UTSW	1	12,887,656 (GRCm39)	missense	probably benign
R3874:Sulf1	UTSW	1	12,887,636 (GRCm39)	missense	probably damaging	1.00
R4488:Sulf1	UTSW	1	12,856,739 (GRCm39)	start gained	probably benign
R4619:Sulf1	UTSW	1	12,856,876 (GRCm39)	missense	probably damaging	1.00
R4743:Sulf1	UTSW	1	12,906,517 (GRCm39)	missense	probably benign	0.04
R4836:Sulf1	UTSW	1	12,912,910 (GRCm39)	missense	probably benign	0.02
R4918:Sulf1	UTSW	1	12,888,720 (GRCm39)	missense	probably damaging	1.00
R4958:Sulf1	UTSW	1	12,867,134 (GRCm39)	missense	probably benign	0.08
R5216:Sulf1	UTSW	1	12,867,098 (GRCm39)	missense	probably benign	0.28
R5225:Sulf1	UTSW	1	12,911,702 (GRCm39)	missense	probably benign
R5427:Sulf1	UTSW	1	12,867,136 (GRCm39)	missense	possibly damaging	0.84
R5450:Sulf1	UTSW	1	12,867,131 (GRCm39)	missense	probably benign	0.04
R5909:Sulf1	UTSW	1	12,929,039 (GRCm39)	missense	possibly damaging	0.94
R5912:Sulf1	UTSW	1	12,856,976 (GRCm39)	unclassified	probably benign
R5966:Sulf1	UTSW	1	12,929,636 (GRCm39)	missense	probably benign	0.06
R6339:Sulf1	UTSW	1	12,908,664 (GRCm39)	missense	probably damaging	1.00
R6841:Sulf1	UTSW	1	12,908,658 (GRCm39)	missense	probably damaging	1.00
R6880:Sulf1	UTSW	1	12,912,979 (GRCm39)	missense	probably damaging	1.00
R7110:Sulf1	UTSW	1	12,908,825 (GRCm39)	missense	probably damaging	1.00
R7255:Sulf1	UTSW	1	12,929,232 (GRCm39)	missense	probably benign	0.00
R7275:Sulf1	UTSW	1	12,921,189 (GRCm39)	splice site	probably null
R7386:Sulf1	UTSW	1	12,908,585 (GRCm39)	missense	probably benign	0.07
R7611:Sulf1	UTSW	1	12,906,467 (GRCm39)	missense	probably benign
R7732:Sulf1	UTSW	1	12,913,013 (GRCm39)	missense	probably benign	0.11
R7796:Sulf1	UTSW	1	12,929,044 (GRCm39)	missense	probably benign	0.27
R7898:Sulf1	UTSW	1	12,875,518 (GRCm39)	missense	probably damaging	1.00
R7984:Sulf1	UTSW	1	12,929,497 (GRCm39)	missense	probably benign	0.00
R8003:Sulf1	UTSW	1	12,908,825 (GRCm39)	missense	probably damaging	1.00
R8684:Sulf1	UTSW	1	12,867,004 (GRCm39)	missense	probably benign	0.06
R8714:Sulf1	UTSW	1	12,878,141 (GRCm39)	missense	probably benign	0.07
R8723:Sulf1	UTSW	1	12,856,911 (GRCm39)	missense	probably damaging	1.00
R8988:Sulf1	UTSW	1	12,906,499 (GRCm39)	missense	probably benign
R9055:Sulf1	UTSW	1	12,878,187 (GRCm39)	missense	probably damaging	1.00
R9100:Sulf1	UTSW	1	12,878,118 (GRCm39)	missense	probably damaging	1.00
R9288:Sulf1	UTSW	1	12,856,827 (GRCm39)	missense	probably benign	0.09
R9358:Sulf1	UTSW	1	12,890,729 (GRCm39)	missense	probably damaging	1.00
R9387:Sulf1	UTSW	1	12,908,778 (GRCm39)	missense	probably benign	0.02
R9462:Sulf1	UTSW	1	12,929,459 (GRCm39)	missense	probably damaging	1.00
R9524:Sulf1	UTSW	1	12,918,622 (GRCm39)	missense	probably damaging	1.00
R9581:Sulf1	UTSW	1	12,875,478 (GRCm39)	missense	possibly damaging	0.66
R9664:Sulf1	UTSW	1	12,891,026 (GRCm39)	missense	probably benign	0.01

Posted On

2012-12-06