Incidental Mutation 'IGL02519:Sulf1'
ID 296883
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: 0.406) question?
Stock # IGL02519
Quality Score
Status
Chromosome 1
Chromosomal Location 12762501-12931416 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 12908587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 533 (Y533*)
Ref Sequence ENSEMBL: ENSMUSP00000141153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088585] [ENSMUST00000177608] [ENSMUST00000180062] [ENSMUST00000185780] [ENSMUST00000186051]
AlphaFold Q8K007
Predicted Effect probably null
Transcript: ENSMUST00000088585
AA Change: Y533*
SMART Domains Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: Y533*

DomainStartEndE-ValueType
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
AA Change: Y533*
SMART Domains Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: Y533*

DomainStartEndE-ValueType
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
AA Change: Y533*
SMART Domains Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: Y533*

DomainStartEndE-ValueType
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: ENSMUST00000185780
Predicted Effect probably null
Transcript: ENSMUST00000186051
AA Change: Y533*
SMART Domains Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: Y533*

DomainStartEndE-ValueType
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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 26,868,687 (GRCm39) I224F probably damaging Het
Adamts17 A G 7: 66,774,721 (GRCm39) T947A possibly damaging Het
Ankfn1 T C 11: 89,296,504 (GRCm39) E75G probably benign Het
Arfgef1 G T 1: 10,279,893 (GRCm39) H225N probably benign Het
Arsi A G 18: 61,050,139 (GRCm39) S341G probably damaging Het
Aspm T A 1: 139,389,665 (GRCm39) probably benign Het
Bltp1 A G 3: 36,949,464 (GRCm39) E370G probably damaging Het
Cacna1i C T 15: 80,246,075 (GRCm39) R490* probably null Het
Cd33 C T 7: 43,178,153 (GRCm39) probably benign Het
Clmn T C 12: 104,758,112 (GRCm39) I135V probably damaging Het
Crebbp A T 16: 3,919,457 (GRCm39) N795K possibly damaging Het
Dhps A G 8: 85,799,928 (GRCm39) D126G probably damaging Het
Dlg2 G T 7: 91,589,323 (GRCm39) V196L possibly damaging Het
Dsg1c T A 18: 20,416,790 (GRCm39) I897N probably damaging Het
Dzip3 A G 16: 48,748,759 (GRCm39) L1059S probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Fgf17 A G 14: 70,875,968 (GRCm39) I88T probably damaging Het
G3bp2 A G 5: 92,214,383 (GRCm39) V137A possibly damaging Het
Gnal G A 18: 67,221,836 (GRCm39) E80K unknown Het
Hectd1 T G 12: 51,815,894 (GRCm39) S1393R probably damaging Het
Igsf6 T C 7: 120,667,496 (GRCm39) I173M possibly damaging Het
Il2ra A C 2: 11,687,901 (GRCm39) E227A possibly damaging Het
Iqcf6 C T 9: 106,504,479 (GRCm39) R48C probably damaging Het
Kdm3a G T 6: 71,588,570 (GRCm39) Q480K probably benign Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Magea6 T C X: 153,707,741 (GRCm39) D105G probably benign Het
Nop53 C A 7: 15,673,197 (GRCm39) probably benign Het
Or14a260 A T 7: 85,984,789 (GRCm39) F272I probably benign Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Pgghg A G 7: 140,524,894 (GRCm39) T352A possibly damaging Het
Setd2 T C 9: 110,382,184 (GRCm39) S1464P probably damaging Het
Sspo C A 6: 48,461,762 (GRCm39) T3609N probably damaging Het
Thsd7b A G 1: 129,540,932 (GRCm39) S346G probably benign Het
Tmem161b T A 13: 84,442,863 (GRCm39) L261Q probably damaging Het
Tmem63b T A 17: 45,976,134 (GRCm39) T493S possibly damaging Het
Tmprss11d A T 5: 86,454,164 (GRCm39) C214S probably damaging Het
Trim16 A T 11: 62,724,905 (GRCm39) E144V possibly damaging Het
Unc13d T C 11: 115,961,359 (GRCm39) Y356C probably damaging Het
Urgcp A T 11: 5,667,745 (GRCm39) F198I probably benign Het
Vmn2r111 T C 17: 22,767,320 (GRCm39) I726V possibly damaging Het
Zzz3 A T 3: 152,133,027 (GRCm39) E28D probably damaging Het
Other mutations in Sulf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16