Incidental Mutation 'R4836:Sulf1'
ID 373205
Institutional Source Beutler Lab
Gene Symbol Sulf1
Ensembl Gene ENSMUSG00000016918
Gene Name sulfatase 1
Synonyms
MMRRC Submission 042451-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R4836 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 12762501-12931416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12912910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 715 (L715F)
Ref Sequence ENSEMBL: ENSMUSP00000136014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088585] [ENSMUST00000177608] [ENSMUST00000180062] [ENSMUST00000185780] [ENSMUST00000186051]
AlphaFold Q8K007
Predicted Effect probably benign
Transcript: ENSMUST00000088585
AA Change: L715F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: L715F

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: L715F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: L715F

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: L715F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: L715F

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 benign
Transcript: ENSMUST00000186051
AA Change: L715F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: L715F

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
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 98% (87/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 A T 11: 116,066,152 (GRCm39) S453T probably benign Het
Ahnak2 A T 12: 112,740,550 (GRCm39) V368D probably damaging Het
Ankrd53 A T 6: 83,745,134 (GRCm39) Y448F probably damaging Het
Arhgef15 A T 11: 68,840,751 (GRCm39) probably benign Het
Atg2b T C 12: 105,613,073 (GRCm39) N1166S probably benign Het
Atl3 C T 19: 7,486,910 (GRCm39) R77* probably null Het
Bend6 T C 1: 33,922,654 (GRCm39) probably benign Het
Ccnt1 C A 15: 98,465,444 (GRCm39) R25L probably damaging Het
Cct4 A G 11: 22,952,898 (GRCm39) T525A probably benign Het
Cep350 T C 1: 155,804,579 (GRCm39) I835V probably damaging Het
Cimap2 T A 4: 106,467,724 (GRCm39) probably null Het
Clcn1 G T 6: 42,286,898 (GRCm39) V652L probably damaging Het
Cntln T A 4: 84,967,957 (GRCm39) Y725* probably null Het
Cog5 T C 12: 31,969,732 (GRCm39) F21L probably benign Het
D6Ertd527e GGCAGCAGCAGCA GGCAGCAGCAGCAGCA 6: 87,088,406 (GRCm39) probably benign Het
Dnm2 A T 9: 21,402,626 (GRCm39) probably benign Het
Dnmt1 C T 9: 20,819,854 (GRCm39) V1430I probably damaging Het
Dpep1 A G 8: 123,927,106 (GRCm39) D285G probably damaging Het
Eef2kmt C T 16: 5,066,867 (GRCm39) V129M probably damaging Het
Epha3 A T 16: 63,403,920 (GRCm39) M726K probably damaging Het
Fat3 A G 9: 16,289,019 (GRCm39) L168P probably damaging Het
Frem3 T A 8: 81,390,026 (GRCm39) F1759Y probably damaging Het
Fubp3 T A 2: 31,498,153 (GRCm39) S56R possibly damaging Het
Gm1965 T C 6: 89,122,392 (GRCm39) noncoding transcript Het
Gm5592 C T 7: 40,864,958 (GRCm39) probably benign Het
H1f9 T A 11: 94,858,843 (GRCm39) L46* probably null Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Isl1 A G 13: 116,439,619 (GRCm39) M243T probably benign Het
Itpr1 A T 6: 108,366,498 (GRCm39) I142F probably damaging Het
Jak1 T C 4: 101,012,263 (GRCm39) T1069A probably damaging Het
Jmjd1c T C 10: 67,069,225 (GRCm39) V1848A probably benign Het
Kdm5a T C 6: 120,389,363 (GRCm39) V930A probably damaging Het
Kdm5b C A 1: 134,521,053 (GRCm39) probably null Het
Lilra5 T C 7: 4,241,713 (GRCm39) F171L possibly damaging Het
Map1b A G 13: 99,567,562 (GRCm39) S1720P unknown Het
Mcpt1 A T 14: 56,257,017 (GRCm39) Q185L probably damaging Het
Mmp20 T A 9: 7,644,027 (GRCm39) D238E possibly damaging Het
Mov10l1 A T 15: 88,904,472 (GRCm39) I784F possibly damaging Het
Mroh2b C T 15: 4,933,752 (GRCm39) P101S probably damaging Het
Myh3 G T 11: 66,987,765 (GRCm39) A1413S probably benign Het
Naa80 A T 9: 107,460,738 (GRCm39) Y211F probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or12j4 A G 7: 140,046,989 (GRCm39) R292G probably damaging Het
Or2t48 A C 11: 58,420,308 (GRCm39) M168R probably damaging Het
Or4a66 A G 2: 88,531,544 (GRCm39) I43T probably damaging Het
Or5g9 A G 2: 85,551,793 (GRCm39) I15V probably benign Het
Or8k22 A T 2: 86,163,571 (GRCm39) M43K probably benign Het
Or8k23 G A 2: 86,186,094 (GRCm39) L211F probably benign Het
Palld T A 8: 62,140,415 (GRCm39) T531S probably benign Het
Parp4 A G 14: 56,823,195 (GRCm39) E105G probably benign Het
Phf11a A T 14: 59,525,028 (GRCm39) S59T probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Rad50 A T 11: 53,541,480 (GRCm39) I1252N probably damaging Het
Ramp3 A G 11: 6,624,761 (GRCm39) probably null Het
Rrbp1 G A 2: 143,830,337 (GRCm39) T610I possibly damaging Het
Scart2 T C 7: 139,879,021 (GRCm39) I1051T probably benign Het
Semp2l2a C T 8: 13,888,007 (GRCm39) S28N probably benign Het
Slc4a10 A G 2: 62,098,531 (GRCm39) Y555C probably damaging Het
Slc5a2 A G 7: 127,866,677 (GRCm39) probably null Het
Smoc1 T A 12: 81,226,322 (GRCm39) D371E probably damaging Het
Stmn1 T A 4: 134,197,495 (GRCm39) probably benign Het
Surf1 T C 2: 26,804,255 (GRCm39) T180A possibly damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A T 3: 93,352,455 (GRCm39) R632W unknown Het
Tchh A T 3: 93,354,895 (GRCm39) D1445V unknown Het
Tctn1 A T 5: 122,383,568 (GRCm39) M505K probably benign Het
Tdrkh T A 3: 94,332,897 (GRCm39) I150N probably damaging Het
Tespa1 C T 10: 130,198,028 (GRCm39) T350I probably benign Het
Thbs1 A G 2: 117,945,499 (GRCm39) Y326C possibly damaging Het
Tmem208 C T 8: 106,055,296 (GRCm39) S119F probably damaging Het
Tmprss6 G C 15: 78,329,588 (GRCm39) A91G probably damaging Het
Trp53bp2 C T 1: 182,259,147 (GRCm39) R67W probably damaging Het
Ttn A G 2: 76,541,541 (GRCm39) I25488T possibly damaging Het
Txnl4a A G 18: 80,265,468 (GRCm39) E111G probably damaging Het
Unc13b T G 4: 43,237,137 (GRCm39) I3402M probably damaging Het
Vmn1r188 A C 13: 22,272,291 (GRCm39) I82L probably benign Het
Zfp65 A G 13: 67,856,994 (GRCm39) V95A probably benign Het
Zfp985 T A 4: 147,668,612 (GRCm39) S493R 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
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
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'- GTGATCGTCAGATTCAGTGCAG -3'
(R):5'- ACAATAGGAGGCGCTCTCTG -3'

Sequencing Primer
(F):5'- AGAACTGTCCTGAGCGAGTTTACC -3'
(R):5'- TGCACTCCATGGGATGTACC -3'
Posted On 2016-03-01