Incidental Mutation 'IGL02601:Sulf1'
ID 300086
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 # IGL02601
Quality Score
Status
Chromosome 1
Chromosomal Location 12762501-12931416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12856869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 40 (N40I)
Ref Sequence ENSEMBL: ENSMUSP00000141153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088585] [ENSMUST00000177608] [ENSMUST00000180062] [ENSMUST00000186051] [ENSMUST00000186405] [ENSMUST00000189541]
AlphaFold Q8K007
Predicted Effect probably damaging
Transcript: ENSMUST00000088585
AA Change: N40I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: N40I

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: ENSMUST00000177608
AA Change: N40I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: N40I

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 damaging
Transcript: ENSMUST00000180062
AA Change: N40I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: N40I

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: N40I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: N40I

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 probably benign
Transcript: ENSMUST00000186405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187376
Predicted Effect probably benign
Transcript: ENSMUST00000189541
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P 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
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