Mutagenetix > Incidental Mutation

Incidental Mutation 'R1083:Sulf1'

84902

Institutional Source

Beutler Lab

Gene Symbol

Sulf1

Ensembl Gene

ENSMUSG00000016918

Gene Name

sulfatase 1

Synonyms

MMRRC Submission

039169-MU

Accession Numbers

Essential gene?

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

Stock #

R1083 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

12762501-12931416 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AAGGGA to AAGGGAGGGA at 12906388 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: ENSMUST00000189447

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.0%

Validation Efficiency

100% (38/38)

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
A730049H05Rik	T	C	6: 92,805,046 (GRCm39)		probably benign	Het
Adamts17	G	A	7: 66,797,322 (GRCm39)	C986Y	probably damaging	Het
AI987944	A	G	7: 41,024,763 (GRCm39)	V75A	probably benign	Het
Arhgap10	T	C	8: 78,244,378 (GRCm39)	Y12C	probably damaging	Het
Atp11b	G	A	3: 35,832,162 (GRCm39)		probably benign	Het
Ccer1	T	A	10: 97,530,520 (GRCm39)	D394E	possibly damaging	Het
Cdh2	T	C	18: 16,777,016 (GRCm39)	N273S	possibly damaging	Het
Cfap65	G	T	1: 74,957,663 (GRCm39)		probably benign	Het
Crybb3	A	T	5: 113,228,444 (GRCm39)		probably benign	Het
D7Ertd443e	G	A	7: 133,950,663 (GRCm39)	Q337*	probably null	Het
Dixdc1	C	T	9: 50,588,293 (GRCm39)		probably benign	Het
Dut	GCGGC	GCGGCCGGC	2: 125,089,748 (GRCm39)		probably null	Het
Fbxo2	A	G	4: 148,250,234 (GRCm39)		probably null	Het
Gm5174	T	C	10: 86,491,972 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,076,643 (GRCm39)		probably benign	Het
Il12a	C	T	3: 68,602,666 (GRCm39)	T112M	probably damaging	Het
Itpr1	T	A	6: 108,487,657 (GRCm39)	V2361D	possibly damaging	Het
Jag1	G	A	2: 136,938,152 (GRCm39)	L283F	probably damaging	Het
Lamb2	A	C	9: 108,360,892 (GRCm39)	D538A	probably benign	Het
Map10	T	A	8: 126,397,178 (GRCm39)	C190*	probably null	Het
Pcnx2	C	T	8: 126,498,843 (GRCm39)	R1552H	probably damaging	Het
Phf1	T	C	17: 27,156,244 (GRCm39)		probably benign	Het
Pitx2	A	G	3: 129,012,418 (GRCm39)	T276A	probably damaging	Het
Pparg	A	G	6: 115,467,107 (GRCm39)	D490G	probably damaging	Het
Rnf10	A	T	5: 115,398,163 (GRCm39)		probably benign	Het
Sbp	T	C	17: 24,161,704 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,900,841 (GRCm39)	L942H	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sfmbt1	A	T	14: 30,509,498 (GRCm39)	N326Y	possibly damaging	Het
Slx4	G	A	16: 3,808,774 (GRCm39)	Q389*	probably null	Het
Srrm3	T	A	5: 135,883,263 (GRCm39)	V206E	probably damaging	Het
Sspo	T	A	6: 48,447,933 (GRCm39)	D2270E	possibly damaging	Het
Vmn1r14	T	A	6: 57,211,184 (GRCm39)	I210N	probably damaging	Het
Wasf3	T	G	5: 146,372,182 (GRCm39)	L13R	probably damaging	Het
Yes1	T	C	5: 32,809,101 (GRCm39)		probably null	Het
Zfp292	T	C	4: 34,807,569 (GRCm39)	D1830G	probably damaging	Het
Zfp541	A	G	7: 15,812,637 (GRCm39)	N430S	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
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
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'- CGGAGGATTCATTTATCAGCGCCAG -3'
(R):5'- AGGCACCGAGAACATCTCATTTGTG -3'

Sequencing Primer
(F):5'- AGGCAGTTCTGATTCCCAATG -3'
(R):5'- AATCACGGGGGAGGTTGTC -3'

Posted On

2013-11-18