Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Sulf1'

57450

Institutional Source

Beutler Lab

Gene Symbol

Sulf1

Ensembl Gene

ENSMUSG00000016918

Gene Name

sulfatase 1

Synonyms

MMRRC Submission

038815-MU

Accession Numbers

Essential gene?

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

Stock #

R0626 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

12762501-12931416 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 12887716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141153 (fasta)

Gene Model

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

AlphaFold

Q8K007

Predicted Effect

probably null
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 null
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000187376

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Aspm	G	T	1: 139,419,339 (GRCm39)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,046,162 (GRCm39)		probably null	Het
Bach1	A	G	16: 87,526,359 (GRCm39)	D607G	possibly damaging	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,318,418 (GRCm39)		probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col5a1	T	A	2: 27,818,255 (GRCm39)	L160*	probably null	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 24,996,554 (GRCm39)	V43A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm39)	D623G	probably benign	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sp4	A	G	12: 118,263,314 (GRCm39)	L244P	probably damaging	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Usp7	G	T	16: 8,511,778 (GRCm39)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	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
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

Predicted Primers

PCR Primer
(F):5'- GCTTGGGAGAAGAACACTTCAGCAG -3'
(R):5'- CCAAAGCATTTGATGGTATGGACCCTG -3'

Sequencing Primer
(F):5'- AAGGCTGTATGATGACTACTTTCTG -3'
(R):5'- CATTTGATGGTATGGACCCTGAATTG -3'

Posted On

2013-07-11