Mutagenetix > Incidental Mutation

Incidental Mutation 'R4743:Sulf1'

358159

Institutional Source

Beutler Lab

Gene Symbol

Sulf1

Ensembl Gene

ENSMUSG00000016918

Gene Name

sulfatase 1

Synonyms

MMRRC Submission

041967-MU

Accession Numbers

Essential gene?

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

Stock #

R4743 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12762501-12931416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12906517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 520 (N520D)

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: N520D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: N520D

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: N520D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: N520D

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: N520D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: N520D

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
AA Change: N520D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: N520D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (44/45)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	A	G	1: 85,858,972 (GRCm39)		probably benign	Het
Ahcy	T	C	2: 154,910,888 (GRCm39)	N27D	probably damaging	Het
Akap9	T	G	5: 4,011,013 (GRCm39)	L572R	probably damaging	Het
Akna	A	G	4: 63,296,850 (GRCm39)	S909P	probably damaging	Het
Atr	A	G	9: 95,744,845 (GRCm39)	E54G	probably benign	Het
Baz2b	A	G	2: 59,744,255 (GRCm39)	S1417P	probably benign	Het
Colgalt2	A	G	1: 152,276,094 (GRCm39)	Y69C	probably damaging	Het
Comp	A	G	8: 70,828,711 (GRCm39)	E181G	probably damaging	Het
Dcaf10	T	A	4: 45,370,409 (GRCm39)	S326T	probably damaging	Het
Dscam	T	C	16: 96,631,256 (GRCm39)	E253G	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Epha1	G	T	6: 42,349,155 (GRCm39)	T36K	probably benign	Het
Ewsr1	A	T	11: 5,033,541 (GRCm39)	D210E	unknown	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fndc1	T	A	17: 7,991,111 (GRCm39)	R862*	probably null	Het
Gbp8	T	C	5: 105,178,707 (GRCm39)	K203E	possibly damaging	Het
Gigyf2	T	A	1: 87,292,970 (GRCm39)	L79*	probably null	Het
Gm8220	T	A	14: 44,523,152 (GRCm39)		probably benign	Het
Gm9755	A	T	8: 67,966,929 (GRCm39)		noncoding transcript	Het
Il6	T	C	5: 30,223,042 (GRCm39)	Y120H	probably damaging	Het
Kcnma1	T	C	14: 23,853,270 (GRCm39)	T2A	probably damaging	Het
Mroh9	T	C	1: 162,852,061 (GRCm39)	Y876C	probably benign	Het
Plekhh2	A	G	17: 84,878,548 (GRCm39)	Y601C	probably damaging	Het
Rabgap1l	G	T	1: 160,281,353 (GRCm39)	Q623K	probably damaging	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rapgef2	T	C	3: 79,080,375 (GRCm39)	Y109C	probably damaging	Het
Rhox2c	A	C	X: 36,635,351 (GRCm39)	Q4H	probably benign	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Slain2	T	A	5: 73,114,927 (GRCm39)	L386*	probably null	Het
Slc4a7	A	G	14: 14,796,073 (GRCm38)		probably null	Het
Slco1c1	T	C	6: 141,510,242 (GRCm39)	C582R	probably damaging	Het
Tbc1d7	A	G	13: 43,323,325 (GRCm39)	V22A	probably damaging	Het
Tmprss6	A	G	15: 78,327,910 (GRCm39)	V612A	probably damaging	Het
Trpv2	A	G	11: 62,483,627 (GRCm39)	E488G	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Uspl1	A	G	5: 149,146,566 (GRCm39)	Y439C	probably damaging	Het
Vwf	A	G	6: 125,661,054 (GRCm39)		probably null	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
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
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'- ATAACAACTGGCTCAGCATCGC -3'
(R):5'- CTGAAATCTAGGCACCGAGAACATC -3'

Sequencing Primer
(F):5'- TTGCAGAACTGGCAGTGCATC -3'
(R):5'- GGCACCGAGAACATCTCATTTGTG -3'

Posted On

2015-11-11