Incidental Mutation 'R5427:Sulf1'
ID 426931
Institutional Source Beutler Lab
Gene Symbol Sulf1
Ensembl Gene ENSMUSG00000016918
Gene Name sulfatase 1
Synonyms
MMRRC Submission 042993-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R5427 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 12762501-12931416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12867136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 107 (T107S)
Ref Sequence ENSEMBL: ENSMUSP00000141153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088585] [ENSMUST00000177608] [ENSMUST00000180062] [ENSMUST00000186051]
AlphaFold Q8K007
Predicted Effect possibly damaging
Transcript: ENSMUST00000088585
AA Change: T107S

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: T107S

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 possibly damaging
Transcript: ENSMUST00000177608
AA Change: T107S

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: T107S

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 possibly damaging
Transcript: ENSMUST00000180062
AA Change: T107S

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: T107S

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 possibly damaging
Transcript: ENSMUST00000186051
AA Change: T107S

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: T107S

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
Meta Mutation Damage Score 0.1596 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (58/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,248,385 (GRCm39) V277A possibly damaging Het
Adcy7 G A 8: 89,052,829 (GRCm39) probably null Het
Adgrg5 A T 8: 95,661,730 (GRCm39) D157V probably benign Het
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Alpi T C 1: 87,029,076 (GRCm39) N33D probably benign Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Anp32a A G 9: 62,284,598 (GRCm39) probably benign Het
Atg4b G C 1: 93,702,928 (GRCm39) K86N probably damaging Het
Bbx T C 16: 50,100,860 (GRCm39) T12A probably benign Het
Catsperg2 T C 7: 29,414,275 (GRCm39) T377A possibly damaging Het
Ccdc158 T C 5: 92,796,821 (GRCm39) Q505R probably damaging Het
Cep135 T A 5: 76,786,049 (GRCm39) S1051T probably benign Het
Cryab A G 9: 50,667,593 (GRCm39) D109G probably damaging Het
Crym A C 7: 119,798,445 (GRCm39) probably benign Het
Csf2rb2 T A 15: 78,173,111 (GRCm39) S250C probably damaging Het
Diaph1 A T 18: 38,023,648 (GRCm39) V730E unknown Het
Eci3 G T 13: 35,143,931 (GRCm39) L65M possibly damaging Het
Erg28 T C 12: 85,866,341 (GRCm39) N46D probably damaging Het
Fam89b A G 19: 5,778,819 (GRCm39) S127P probably benign Het
Fign A G 2: 63,809,342 (GRCm39) Y643H probably damaging Het
Galk2 T C 2: 125,788,741 (GRCm39) V265A probably benign Het
Gclm T C 3: 122,059,976 (GRCm39) V252A probably damaging Het
Git2 A G 5: 114,868,389 (GRCm39) S584P possibly damaging Het
Iqcf3 T C 9: 106,421,059 (GRCm39) probably null Het
Kcnk3 A G 5: 30,779,639 (GRCm39) T230A possibly damaging Het
Mettl25b T C 3: 87,831,639 (GRCm39) probably benign Het
Myh10 T C 11: 68,693,757 (GRCm39) L1486P probably damaging Het
Myom2 C A 8: 15,163,764 (GRCm39) A1006E probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nampt A T 12: 32,884,914 (GRCm39) H111L probably benign Het
Nid1 A G 13: 13,658,268 (GRCm39) Y671C probably damaging Het
Npy5r G A 8: 67,133,672 (GRCm39) R374C probably damaging Het
Or10ag54 A T 2: 87,099,858 (GRCm39) K244N probably benign Het
Or5b123 A T 19: 13,596,714 (GRCm39) S20C probably benign Het
Palld C T 8: 62,003,106 (GRCm39) C720Y probably benign Het
Pcsk6 C T 7: 65,683,647 (GRCm39) T606M probably benign Het
Pfas T C 11: 68,891,979 (GRCm39) I176M possibly damaging Het
Pi4kb A G 3: 94,901,518 (GRCm39) D395G probably benign Het
Plod3 A T 5: 137,020,642 (GRCm39) Y547F probably damaging Het
Plscr1l1 G A 9: 92,234,649 (GRCm39) C128Y probably benign Het
Pnpo T C 11: 96,834,633 (GRCm39) Y21C probably benign Het
Rgs1 A T 1: 144,122,018 (GRCm39) C118* probably null Het
Slc22a27 A G 19: 7,856,753 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sppl2c G A 11: 104,078,693 (GRCm39) V498I probably benign Het
Stim2 A T 5: 54,268,281 (GRCm39) I448F possibly damaging Het
Tenm3 A G 8: 48,689,599 (GRCm39) V1996A probably damaging Het
Timm23 G A 14: 31,911,103 (GRCm39) T171I possibly damaging Het
Tssk2 A G 16: 17,716,729 (GRCm39) D44G probably damaging Het
Vmn2r28 A T 7: 5,489,376 (GRCm39) Y488N probably damaging Het
Zbed6 A G 1: 133,585,333 (GRCm39) V668A possibly damaging Het
Zbtb48 A G 4: 152,105,108 (GRCm39) F518S probably damaging Het
Zfp709 A G 8: 72,642,976 (GRCm39) E135G probably benign Het
Zfp788 G A 7: 41,299,076 (GRCm39) V571I possibly damaging Het
Zfp963 A G 8: 70,196,106 (GRCm39) S116P probably benign 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
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
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
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'- AGGGAACAGCGCTATCTAAATGAC -3'
(R):5'- TTGTTGAGTCTCCTGGAACTTC -3'

Sequencing Primer
(F):5'- GTTTTGCTAACCAGTGTCAGAC -3'
(R):5'- ATTACCCAGTGCAGTTCC -3'
Posted On 2016-09-01