Mutagenetix > Incidental Mutation

Incidental Mutation 'R4488:Sulf1'

330577

Institutional Source

Beutler Lab

Gene Symbol

Sulf1

Ensembl Gene

ENSMUSG00000016918

Gene Name

sulfatase 1

Synonyms

MMRRC Submission

041744-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R4488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12762501-12931416 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 12856739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088585] [ENSMUST00000177608] [ENSMUST00000180062] [ENSMUST00000186051] [ENSMUST00000186405] [ENSMUST00000189541]

AlphaFold

Q8K007

Predicted Effect

probably benign
Transcript: ENSMUST00000088585

SMART Domains

Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918

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

SMART Domains

Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918

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

SMART Domains

Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918

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: ENSMUST00000186051

SMART Domains

Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918

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

probably benign
Transcript: ENSMUST00000186405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187376

Predicted Effect

probably benign
Transcript: ENSMUST00000189541

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

95% (38/40)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkal1	A	T	1: 6,429,631 (GRCm39)	Q26L	probably benign	Het
Bltp1	A	T	3: 37,058,082 (GRCm39)	Q3224L	probably null	Het
Brox	A	G	1: 183,062,514 (GRCm39)	L280S	probably benign	Het
Cep41	A	T	6: 30,655,688 (GRCm39)		probably benign	Het
Cryz	C	A	3: 154,324,094 (GRCm39)		probably benign	Het
Cyp26c1	T	C	19: 37,681,658 (GRCm39)	V487A	probably benign	Het
Dlx6	T	C	6: 6,867,207 (GRCm39)	M270T	probably damaging	Het
Glb1	T	C	9: 114,272,182 (GRCm39)	I273T	probably damaging	Het
Glp1r	A	C	17: 31,137,905 (GRCm39)	H112P	probably benign	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hao2	T	A	3: 98,789,341 (GRCm39)	I116F	probably damaging	Het
Hcrtr1	A	G	4: 130,029,556 (GRCm39)	V175A	probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Mki67	G	A	7: 135,299,400 (GRCm39)	T1878I	probably benign	Het
Ncoa6	A	G	2: 155,249,396 (GRCm39)	F1303L	possibly damaging	Het
Ngf	G	A	3: 102,428,015 (GRCm39)	D255N	probably damaging	Het
Nutf2	T	A	8: 106,603,059 (GRCm39)		probably null	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Rbm45	T	C	2: 76,206,740 (GRCm39)	S251P	probably damaging	Het
Rnaset2b	A	G	17: 7,265,469 (GRCm39)	Y155C	probably damaging	Het
Rnf122	A	G	8: 31,618,283 (GRCm39)	T92A	probably damaging	Het
Rnf220	A	G	4: 117,347,011 (GRCm39)	S134P	probably damaging	Het
Shprh	A	T	10: 11,036,215 (GRCm39)	I351F	probably benign	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Svil	T	C	18: 5,049,067 (GRCm39)	Y202H	probably damaging	Het
Tek	A	G	4: 94,737,993 (GRCm39)	D681G	possibly damaging	Het
Tra2a	A	G	6: 49,229,428 (GRCm39)		probably benign	Het
Vcp	A	T	4: 42,993,826 (GRCm39)	I102N	probably damaging	Het
Vmn2r25	A	T	6: 123,799,819 (GRCm39)	I841N	probably damaging	Het
Zfp949	T	C	9: 88,452,142 (GRCm39)	S571P	probably damaging	Het
Zkscan16	A	G	4: 58,957,431 (GRCm39)	E571G	possibly damaging	Het
Zup1	G	A	10: 33,824,960 (GRCm39)	T174I	probably damaging	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
IGL00788:Sulf1	APN	1	12,918,673 (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
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

Predicted Primers

PCR Primer
(F):5'- TTAAAATCTCCCTGGTGGTAGTG -3'
(R):5'- TGGTCGTCAGTGAGCACAAG -3'

Sequencing Primer
(F):5'- GGTCTGCTACCTGTGACTCACAC -3'
(R):5'- CACAAGGATAATATTGGGTCTGATG -3'

Posted On

2015-07-21