Incidental Mutation 'IGL00766:Sulf1'
ID 14296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sulf1
Ensembl Gene ENSMUSG00000016918
Gene Name sulfatase 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.603) question?
Stock # IGL00766
Quality Score
Status
Chromosome 1
Chromosomal Location 12692277-12861192 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 12820463 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 375 (D375A)
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: D375A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: D375A

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: ENSMUST00000177608
AA Change: D375A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: D375A

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 benign
Transcript: ENSMUST00000180062
AA Change: D375A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: D375A

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 damaging
Transcript: ENSMUST00000186051
AA Change: D375A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: D375A

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: ENSMUST00000187376
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,252,164 Q2829L unknown Het
Adgrl3 T A 5: 81,794,568 D1379E probably damaging Het
Akap13 A G 7: 75,704,512 T1794A probably damaging Het
Ano2 A T 6: 126,013,253 D779V probably damaging Het
Ap3b1 G T 13: 94,542,884 probably benign Het
Arfgef1 A G 1: 10,199,787 V379A probably benign Het
Arhgef10 A G 8: 14,975,006 Y398C probably damaging Het
Arid2 C T 15: 96,370,405 R800C probably benign Het
Ccdc88a T A 11: 29,501,046 H306Q probably damaging Het
Cckar C A 5: 53,700,036 R344L probably damaging Het
Egfem1 A G 3: 29,657,153 I237V possibly damaging Het
Erlec1 T A 11: 30,950,623 K143* probably null Het
Glyat T G 19: 12,651,262 D140E probably benign Het
Gm4907 C A X: 23,906,599 A113E probably benign Het
Grhl2 T C 15: 37,336,301 F50L probably damaging Het
Havcr2 T C 11: 46,469,546 V151A probably damaging Het
Herc1 A G 9: 66,450,741 Y2368C probably damaging Het
Ift80 A T 3: 68,914,653 Y686* probably null Het
Itga7 G T 10: 128,941,854 D235Y possibly damaging Het
Kctd3 C T 1: 188,995,776 V199I probably benign Het
Mettl25 A G 10: 105,779,582 probably benign Het
Myoz2 G A 3: 123,016,544 probably benign Het
Nepro C T 16: 44,729,305 Q43* probably null Het
Ophn1 T C X: 98,803,114 D74G probably damaging Het
Plau A G 14: 20,838,567 N84S probably benign Het
Rprd2 A G 3: 95,765,379 V904A possibly damaging Het
Satl1 T C X: 112,405,769 K330E possibly damaging Het
Sis C T 3: 72,907,237 probably benign Het
Slc5a5 A C 8: 70,888,537 I386S probably damaging Het
Slco1c1 T C 6: 141,547,883 Y264H probably damaging Het
Tgfbi A G 13: 56,630,595 D393G probably benign Het
Trim59 A C 3: 69,037,379 D209E probably benign Het
Ubqln3 G T 7: 104,142,824 Q20K probably benign Het
Ubr4 A G 4: 139,440,766 D2808G probably damaging Het
Other mutations in Sulf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Sulf1 APN 1 12848449 missense probably damaging 0.99
IGL00845:Sulf1 APN 1 12796967 missense probably damaging 1.00
IGL01606:Sulf1 APN 1 12836204 missense possibly damaging 0.87
IGL01963:Sulf1 APN 1 12818507 missense probably damaging 1.00
IGL01968:Sulf1 APN 1 12818451 missense probably damaging 1.00
IGL02072:Sulf1 APN 1 12848208 missense probably damaging 1.00
IGL02424:Sulf1 APN 1 12796840 missense probably benign 0.28
IGL02519:Sulf1 APN 1 12838363 nonsense probably null
IGL02601:Sulf1 APN 1 12786645 missense probably damaging 1.00
IGL03066:Sulf1 APN 1 12807944 missense probably damaging 0.99
IGL03200:Sulf1 APN 1 12786617 nonsense probably null
PIT4480001:Sulf1 UTSW 1 12859413 missense probably benign 0.01
PIT4519001:Sulf1 UTSW 1 12848171 missense probably damaging 1.00
R0083:Sulf1 UTSW 1 12817417 missense probably damaging 0.99
R0467:Sulf1 UTSW 1 12796920 missense probably damaging 1.00
R0554:Sulf1 UTSW 1 12805194 missense probably damaging 1.00
R0626:Sulf1 UTSW 1 12817492 splice site probably null
R1083:Sulf1 UTSW 1 12836164 frame shift probably null
R1084:Sulf1 UTSW 1 12836164 frame shift probably null
R1498:Sulf1 UTSW 1 12848350 missense probably damaging 1.00
R1523:Sulf1 UTSW 1 12817350 nonsense probably null
R1854:Sulf1 UTSW 1 12838437 missense probably benign 0.06
R1942:Sulf1 UTSW 1 12848173 missense probably damaging 1.00
R1946:Sulf1 UTSW 1 12796907 missense probably benign 0.04
R1998:Sulf1 UTSW 1 12858834 nonsense probably null
R2034:Sulf1 UTSW 1 12820421 missense probably damaging 1.00
R2068:Sulf1 UTSW 1 12840403 missense probably damaging 1.00
R2113:Sulf1 UTSW 1 12848174 missense probably damaging 0.99
R2277:Sulf1 UTSW 1 12796794 missense probably benign 0.41
R3827:Sulf1 UTSW 1 12817432 missense probably benign
R3874:Sulf1 UTSW 1 12817412 missense probably damaging 1.00
R4488:Sulf1 UTSW 1 12786515 start gained probably benign
R4619:Sulf1 UTSW 1 12786652 missense probably damaging 1.00
R4743:Sulf1 UTSW 1 12836293 missense probably benign 0.04
R4836:Sulf1 UTSW 1 12842686 missense probably benign 0.02
R4918:Sulf1 UTSW 1 12818496 missense probably damaging 1.00
R4958:Sulf1 UTSW 1 12796910 missense probably benign 0.08
R5216:Sulf1 UTSW 1 12796874 missense probably benign 0.28
R5225:Sulf1 UTSW 1 12841478 missense probably benign
R5427:Sulf1 UTSW 1 12796912 missense possibly damaging 0.84
R5450:Sulf1 UTSW 1 12796907 missense probably benign 0.04
R5909:Sulf1 UTSW 1 12858815 missense possibly damaging 0.94
R5912:Sulf1 UTSW 1 12786752 unclassified probably benign
R5966:Sulf1 UTSW 1 12859412 missense probably benign 0.06
R6339:Sulf1 UTSW 1 12838440 missense probably damaging 1.00
R6841:Sulf1 UTSW 1 12838434 missense probably damaging 1.00
R6880:Sulf1 UTSW 1 12842755 missense probably damaging 1.00
R7110:Sulf1 UTSW 1 12838601 missense probably damaging 1.00
R7255:Sulf1 UTSW 1 12859008 missense probably benign 0.00
R7275:Sulf1 UTSW 1 12850965 splice site probably null
R7386:Sulf1 UTSW 1 12838361 missense probably benign 0.07
R7611:Sulf1 UTSW 1 12836243 missense probably benign
R7732:Sulf1 UTSW 1 12842789 missense probably benign 0.11
R7796:Sulf1 UTSW 1 12858820 missense probably benign 0.27
R7898:Sulf1 UTSW 1 12805294 missense probably damaging 1.00
R7984:Sulf1 UTSW 1 12859273 missense probably benign 0.00
R8003:Sulf1 UTSW 1 12838601 missense probably damaging 1.00
R8684:Sulf1 UTSW 1 12796780 missense probably benign 0.06
R8714:Sulf1 UTSW 1 12807917 missense probably benign 0.07
R8723:Sulf1 UTSW 1 12786687 missense probably damaging 1.00
R8988:Sulf1 UTSW 1 12836275 missense probably benign
R9055:Sulf1 UTSW 1 12807963 missense probably damaging 1.00
R9100:Sulf1 UTSW 1 12807894 missense probably damaging 1.00
R9288:Sulf1 UTSW 1 12786603 missense probably benign 0.09
R9358:Sulf1 UTSW 1 12820505 missense probably damaging 1.00
R9387:Sulf1 UTSW 1 12838554 missense probably benign 0.02
R9462:Sulf1 UTSW 1 12859235 missense probably damaging 1.00
R9524:Sulf1 UTSW 1 12848398 missense probably damaging 1.00
R9581:Sulf1 UTSW 1 12805254 missense possibly damaging 0.66
R9664:Sulf1 UTSW 1 12820802 missense probably benign 0.01
Posted On 2012-12-06