Incidental Mutation 'R8988:Sulf1'
ID 684184
Institutional Source Beutler Lab
Gene Symbol Sulf1
Ensembl Gene ENSMUSG00000016918
Gene Name sulfatase 1
Synonyms
MMRRC Submission 068820-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R8988 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 12762501-12931416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12906499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 514 (S514G)
Ref Sequence ENSEMBL: ENSMUSP00000085949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088585] [ENSMUST00000177608] [ENSMUST00000180062] [ENSMUST00000186051]
AlphaFold Q8K007
Predicted Effect probably benign
Transcript: ENSMUST00000088585
AA Change: S514G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: S514G

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: S514G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: S514G

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: S514G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: S514G

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: ENSMUST00000186051
AA Change: S514G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: S514G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (81/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 C T 1: 60,489,251 (GRCm39) T291I probably benign Het
Aox1 A C 1: 58,088,625 (GRCm39) D137A possibly damaging Het
Apbb2 T C 5: 66,609,444 (GRCm39) K68E probably damaging Het
Arf3 A T 15: 98,638,933 (GRCm39) M108K probably benign Het
Atg2b T A 12: 105,583,388 (GRCm39) I2058F probably damaging Het
Bhlhe40 C T 6: 108,639,518 (GRCm39) L99F probably damaging Het
Cd200l1 T C 16: 45,238,271 (GRCm39) H294R probably benign Het
Cyp2b10 G A 7: 25,625,670 (GRCm39) R500H probably damaging Het
Dlc1 C T 8: 37,039,997 (GRCm39) E937K probably damaging Het
Dll3 A T 7: 27,995,793 (GRCm39) V336D possibly damaging Het
Dync2h1 A G 9: 7,037,727 (GRCm39) F3377L probably benign Het
Eef1d A G 15: 75,768,160 (GRCm39) Y561H probably damaging Het
Efcab3 T G 11: 104,911,352 (GRCm39) V4544G probably benign Het
Epb41l1 C A 2: 156,363,591 (GRCm39) T700K probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Ephb2 C A 4: 136,402,769 (GRCm39) G501C probably benign Het
Erbb3 T C 10: 128,406,030 (GRCm39) Y1129C probably damaging Het
Fbn1 C T 2: 125,212,726 (GRCm39) V799M possibly damaging Het
Fbxo9 G A 9: 77,991,933 (GRCm39) P353S probably benign Het
Ggt1 T G 10: 75,412,056 (GRCm39) V100G probably benign Het
Gm45861 T C 8: 28,032,531 (GRCm39) M885T unknown Het
Grin2d A T 7: 45,483,425 (GRCm39) Y917* probably null Het
Hectd4 T A 5: 121,415,819 (GRCm39) V540D possibly damaging Het
Helz T A 11: 107,495,079 (GRCm39) I351K probably damaging Het
Ighv2-6-8 A G 12: 113,759,980 (GRCm39) V43A probably damaging Het
Igkv9-129 T A 6: 67,817,106 (GRCm39) I70N probably damaging Het
Il18 A T 9: 50,489,178 (GRCm39) D69V probably damaging Het
Kcnh7 T A 2: 62,552,209 (GRCm39) E927D Het
Kcnt2 T A 1: 140,356,587 (GRCm39) V342E probably benign Het
Khdc4 A G 3: 88,607,286 (GRCm39) N330S probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Krt18 C G 15: 101,937,962 (GRCm39) A153G probably damaging Het
Lmntd2 A T 7: 140,791,977 (GRCm39) probably benign Het
Lrrc26 G T 2: 25,180,286 (GRCm39) A96S probably benign Het
Map3k11 A T 19: 5,752,166 (GRCm39) S783C probably damaging Het
Mib2 G A 4: 155,740,729 (GRCm39) L632F possibly damaging Het
Mical2 A C 7: 111,910,661 (GRCm39) D277A possibly damaging Het
Mtr A T 13: 12,250,365 (GRCm39) F339L probably benign Het
Musk T C 4: 58,354,032 (GRCm39) F362L probably benign Het
Ncor1 G A 11: 62,233,871 (GRCm39) Q444* probably null Het
Nek4 T C 14: 30,685,924 (GRCm39) S279P Het
Nell1 C T 7: 50,210,543 (GRCm39) T348I unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nrip1 T C 16: 76,088,902 (GRCm39) H885R probably damaging Het
Or13a19 G A 7: 139,902,938 (GRCm39) G109R possibly damaging Het
Or2a5 T A 6: 42,874,201 (GRCm39) V272D Het
Or2y12 C A 11: 49,426,028 (GRCm39) N5K probably damaging Het
Or6c208 T C 10: 129,224,240 (GRCm39) V246A probably damaging Het
Or6c69c T A 10: 129,910,522 (GRCm39) V81D possibly damaging Het
Or6d14 A G 6: 116,534,255 (GRCm39) T290A possibly damaging Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
P3h3 C A 6: 124,834,564 (GRCm39) Q29H possibly damaging Het
Parn A G 16: 13,466,281 (GRCm39) probably null Het
Pcnt C A 10: 76,245,407 (GRCm39) E1077* probably null Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pigb A G 9: 72,929,576 (GRCm39) W336R probably damaging Het
Pkdrej A T 15: 85,700,538 (GRCm39) S1799R probably damaging Het
Pnpla6 G T 8: 3,567,401 (GRCm39) M86I possibly damaging Het
Prickle2 T C 6: 92,435,620 (GRCm39) K50E possibly damaging Het
Psg21 A G 7: 18,386,389 (GRCm39) V199A probably benign Het
Reep3 T C 10: 66,871,786 (GRCm39) probably null Het
Reln T C 5: 22,104,155 (GRCm39) D3272G probably damaging Het
Rps6ka4 A G 19: 6,808,667 (GRCm39) V526A possibly damaging Het
Sel1l3 T C 5: 53,280,771 (GRCm39) E911G probably damaging Het
Serpinb6b C A 13: 33,162,125 (GRCm39) A308E probably benign Het
Slc26a4 A G 12: 31,572,523 (GRCm39) V746A probably benign Het
Slc4a3 T G 1: 75,527,957 (GRCm39) M402R probably damaging Het
Slc9b1 A T 3: 135,078,900 (GRCm39) T186S possibly damaging Het
Slk A G 19: 47,608,712 (GRCm39) Q555R probably benign Het
Smc2 T A 4: 52,475,100 (GRCm39) D925E probably benign Het
Stat5a A T 11: 100,774,764 (GRCm39) T758S unknown Het
Tcp11l1 T A 2: 104,536,853 (GRCm39) N4I probably damaging Het
Tex2 A T 11: 106,402,731 (GRCm39) I1047K unknown Het
Tmem184b A G 15: 79,261,264 (GRCm39) V114A possibly damaging Het
Trmt11 A G 10: 30,467,027 (GRCm39) V95A probably benign Het
Trp53bp2 A G 1: 182,268,433 (GRCm39) D169G possibly damaging Het
Ttc41 T A 10: 86,549,599 (GRCm39) N264K possibly damaging Het
Uba2 A C 7: 33,853,987 (GRCm39) S318R probably benign Het
Wapl T A 14: 34,451,139 (GRCm39) N724K probably damaging Het
Wfdc9 T A 2: 164,493,671 (GRCm39) I5F probably damaging Het
Zan C T 5: 137,406,563 (GRCm39) D3686N unknown Het
Zfp618 A T 4: 63,012,708 (GRCm39) Y140F probably benign Het
Zfp790 A G 7: 29,527,593 (GRCm39) T93A probably benign Het
Zfp979 A C 4: 147,697,984 (GRCm39) F242V 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
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
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'- AACAACTGGCTCAGCATCGC -3'
(R):5'- TCCTGAAATCTAGGCACCGAG -3'

Sequencing Primer
(F):5'- GCTCAGCATCGCCAACTG -3'
(R):5'- GGCACCGAGAACATCTCATTTGTG -3'
Posted On 2021-10-11