Incidental Mutation 'IGL01112:Sumf1'
ID 51331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sumf1
Ensembl Gene ENSMUSG00000030101
Gene Name sulfatase modifying factor 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL01112
Quality Score
Status
Chromosome 6
Chromosomal Location 108083989-108162543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108152977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 137 (F137S)
Ref Sequence ENSEMBL: ENSMUSP00000127537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032191] [ENSMUST00000167338] [ENSMUST00000172188]
AlphaFold Q8R0F3
Predicted Effect probably damaging
Transcript: ENSMUST00000032191
AA Change: F137S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032191
Gene: ENSMUSG00000030101
AA Change: F137S

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
Pfam:FGE-sulfatase 85 365 1.4e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167338
AA Change: F137S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127537
Gene: ENSMUSG00000030101
AA Change: F137S

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
Pfam:FGE-sulfatase 85 340 1.2e-93 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172188
AA Change: F137S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132321
Gene: ENSMUSG00000030101
AA Change: F137S

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
Pfam:FGE-sulfatase 85 149 9.5e-18 PFAM
Pfam:FGE-sulfatase 144 233 4.9e-30 PFAM
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 enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes lacking all sulfatase activities exhibit frequent early postnatal lethality and growth retardation, skeletal anomalies, neurological defects, and massive GAG accumulation and cell vacuolization in all tissues in association with systemic inflammation, apoptosis, and neurodegeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T C 7: 144,190,882 (GRCm39) I401V possibly damaging Het
Ap2a2 A T 7: 141,184,932 (GRCm39) probably benign Het
Apol7c T A 15: 77,410,637 (GRCm39) D103V probably damaging Het
Arid4a T C 12: 71,119,507 (GRCm39) probably null Het
Atp2a1 A G 7: 126,049,479 (GRCm39) V521A probably benign Het
Ccdc88c G T 12: 100,883,062 (GRCm39) D1603E probably benign Het
Clec4f T C 6: 83,630,182 (GRCm39) I125M probably benign Het
Dsc1 T C 18: 20,227,679 (GRCm39) I520V probably benign Het
Eomes G A 9: 118,311,334 (GRCm39) A386T probably damaging Het
Gldc C T 19: 30,135,913 (GRCm39) probably null Het
Hectd4 G T 5: 121,445,013 (GRCm39) M1420I probably benign Het
Hmcn1 A T 1: 150,508,303 (GRCm39) probably benign Het
Ighv6-3 G A 12: 114,355,335 (GRCm39) T118I possibly damaging Het
Krt82 A G 15: 101,453,958 (GRCm39) F250S probably damaging Het
Ltb A G 17: 35,413,576 (GRCm39) T27A probably benign Het
Mex3b T A 7: 82,518,911 (GRCm39) S409T probably benign Het
Mki67 A T 7: 135,315,745 (GRCm39) I39N probably damaging Het
Or51a7 A G 7: 102,615,235 (GRCm39) probably benign Het
Palmd A G 3: 116,717,922 (GRCm39) S192P probably damaging Het
Pcdh20 A T 14: 88,704,636 (GRCm39) M888K probably benign Het
Pclo A T 5: 14,731,083 (GRCm39) H3195L unknown Het
Pgm2 A T 5: 64,260,225 (GRCm39) I137F possibly damaging Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Rmnd1 T C 10: 4,360,793 (GRCm39) probably null Het
Rnf114 T C 2: 167,354,459 (GRCm39) M180T probably damaging Het
Sap30 A G 8: 57,938,123 (GRCm39) F165L possibly damaging Het
Scgb3a2 T A 18: 43,900,059 (GRCm39) probably benign Het
Sftpa1 A T 14: 40,854,527 (GRCm39) N38I probably benign Het
Tln2 C A 9: 67,219,093 (GRCm39) R284L probably damaging Het
Ttn C T 2: 76,570,703 (GRCm39) R26730Q probably damaging Het
Ttn T A 2: 76,540,808 (GRCm39) R25732S probably damaging Het
Tubgcp4 T C 2: 121,004,082 (GRCm39) V41A probably benign Het
Usp53 T A 3: 122,751,367 (GRCm39) Q230L probably damaging Het
Vmn2r57 T C 7: 41,074,467 (GRCm39) E532G probably damaging Het
Vps9d1 G T 8: 123,972,769 (GRCm39) N454K probably damaging Het
Wdr55 T C 18: 36,895,132 (GRCm39) probably null Het
Zfp263 T A 16: 3,566,776 (GRCm39) C76S probably benign Het
Other mutations in Sumf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Sumf1 APN 6 108,130,162 (GRCm39) missense probably damaging 1.00
IGL02146:Sumf1 APN 6 108,150,392 (GRCm39) critical splice acceptor site probably null
R0594:Sumf1 UTSW 6 108,150,375 (GRCm39) missense probably benign 0.31
R0633:Sumf1 UTSW 6 108,121,632 (GRCm39) missense probably damaging 1.00
R1479:Sumf1 UTSW 6 108,153,019 (GRCm39) missense probably damaging 1.00
R3036:Sumf1 UTSW 6 108,130,152 (GRCm39) missense possibly damaging 0.92
R3054:Sumf1 UTSW 6 108,130,165 (GRCm39) missense probably benign 0.14
R4246:Sumf1 UTSW 6 108,131,974 (GRCm39) missense probably damaging 1.00
R4247:Sumf1 UTSW 6 108,131,974 (GRCm39) missense probably damaging 1.00
R4249:Sumf1 UTSW 6 108,131,974 (GRCm39) missense probably damaging 1.00
R4574:Sumf1 UTSW 6 108,085,393 (GRCm39) unclassified probably benign
R4853:Sumf1 UTSW 6 108,162,456 (GRCm39) missense probably benign 0.00
R5146:Sumf1 UTSW 6 108,162,271 (GRCm39) missense probably benign 0.12
R5764:Sumf1 UTSW 6 108,095,424 (GRCm39) intron probably benign
R7981:Sumf1 UTSW 6 108,129,186 (GRCm39) critical splice donor site probably null
R9410:Sumf1 UTSW 6 108,150,363 (GRCm39) missense probably damaging 1.00
R9434:Sumf1 UTSW 6 108,130,096 (GRCm39) missense possibly damaging 0.72
R9698:Sumf1 UTSW 6 108,131,923 (GRCm39) missense probably benign 0.03
Posted On 2013-06-21