Incidental Mutation 'R3036:Sumf1'
ID 263366
Institutional Source Beutler Lab
Gene Symbol Sumf1
Ensembl Gene ENSMUSG00000030101
Gene Name sulfatase modifying factor 1
Synonyms
MMRRC Submission 040552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R3036 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 108083989-108162543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108130152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 214 (A214V)
Ref Sequence ENSEMBL: ENSMUSP00000032191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032191] [ENSMUST00000167338] [ENSMUST00000172188]
AlphaFold Q8R0F3
Predicted Effect possibly damaging
Transcript: ENSMUST00000032191
AA Change: A214V

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032191
Gene: ENSMUSG00000030101
AA Change: A214V

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 possibly damaging
Transcript: ENSMUST00000167338
AA Change: A189V

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127537
Gene: ENSMUSG00000030101
AA Change: A189V

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 noncoding transcript
Transcript: ENSMUST00000171697
Predicted Effect probably benign
Transcript: ENSMUST00000172188
SMART Domains Protein: ENSMUSP00000132321
Gene: ENSMUSG00000030101

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg10 A G 13: 91,189,017 (GRCm39) S98P probably damaging Het
Caskin2 A G 11: 115,697,182 (GRCm39) Y189H probably damaging Het
Ces2b A G 8: 105,561,258 (GRCm39) I143V possibly damaging Het
Gpr108 A G 17: 57,552,323 (GRCm39) V90A probably benign Het
Kcnk18 T A 19: 59,223,494 (GRCm39) V213D probably benign Het
Ly6f T C 15: 75,140,636 (GRCm39) C20R probably damaging Het
Mbl1 C A 14: 40,880,790 (GRCm39) S226Y probably damaging Het
Mdn1 T C 4: 32,750,013 (GRCm39) C4399R probably damaging Het
Myadm A G 7: 3,346,059 (GRCm39) T274A probably benign Het
Nol11 A G 11: 107,064,070 (GRCm39) S561P possibly damaging Het
Pbld2 T C 10: 62,907,225 (GRCm39) S155P probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Teddm1a A G 1: 153,767,656 (GRCm39) Y40C probably benign Het
Tgm2 C T 2: 157,966,167 (GRCm39) G496S probably benign Het
Trpm5 G A 7: 142,639,200 (GRCm39) T239I probably benign Het
Ttn C A 2: 76,730,960 (GRCm39) probably benign Het
Uty G A Y: 1,099,671 (GRCm39) R1112* probably null Het
Other mutations in Sumf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Sumf1 APN 6 108,152,977 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTCCTGACCACAGCAAGTTCC -3'
(R):5'- GAGAGGCTGTGACCCATTTG -3'

Sequencing Primer
(F):5'- CCACAGCAAGTTCCAGGGAG -3'
(R):5'- TGGGCATCTAAAACTTCAGAAGTCC -3'
Posted On 2015-02-05