Incidental Mutation 'R0751:Sumf2'
ID70319
Institutional Source Beutler Lab
Gene Symbol Sumf2
Ensembl Gene ENSMUSG00000025538
Gene Namesulfatase modifying factor 2
Synonyms2610040F05Rik
MMRRC Submission 038931-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #R0751 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location129846986-129864050 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129850005 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 61 (T61S)
Ref Sequence ENSEMBL: ENSMUSP00000144230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137357] [ENSMUST00000171300] [ENSMUST00000201874]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031402
SMART Domains Protein: ENSMUSP00000031402
Gene: ENSMUSG00000029447

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
Pfam:Cpn60_TCP1 30 527 9.9e-153 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122826
Predicted Effect probably benign
Transcript: ENSMUST00000137357
AA Change: T57S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538
AA Change: T57S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:FGE-sulfatase 25 136 6.2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153063
Predicted Effect probably benign
Transcript: ENSMUST00000171300
AA Change: T66S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538
AA Change: T66S

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:FGE-sulfatase 34 299 3.9e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201414
Predicted Effect probably benign
Transcript: ENSMUST00000201874
AA Change: T61S

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144230
Gene: ENSMUSG00000025538
AA Change: T61S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:FGE-sulfatase 29 135 3.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202466
Meta Mutation Damage Score 0.0666 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T A 4: 133,065,396 M1316K probably benign Het
Alox12 T C 11: 70,246,950 I455V probably benign Het
Ankrd28 A G 14: 31,764,268 L89P probably damaging Het
Aqp9 A T 9: 71,138,205 C41S probably damaging Het
Arhgap17 T C 7: 123,314,690 Y199C probably damaging Het
Aspm A T 1: 139,456,898 probably benign Het
Cacfd1 T C 2: 27,018,981 probably null Het
Cd33 T C 7: 43,532,121 D205G probably damaging Het
Chadl T C 15: 81,693,057 S198G probably benign Het
Chtf8 A G 8: 106,886,477 probably null Het
Clec4a4 G T 6: 123,012,712 W104L probably benign Het
Clock A T 5: 76,229,361 I696K possibly damaging Het
Crtc2 T A 3: 90,262,633 Y445* probably null Het
Dapk1 A T 13: 60,696,298 I44F probably damaging Het
Dcbld2 T A 16: 58,449,841 probably null Het
Derl2 T C 11: 71,014,547 probably null Het
Dnah7c A G 1: 46,465,905 T154A probably benign Het
Dnmt3b T A 2: 153,674,842 probably null Het
Dusp3 A T 11: 101,981,728 S106T probably benign Het
Eftud2 A G 11: 102,839,253 V897A probably damaging Het
Eif3l T A 15: 79,075,766 probably null Het
Fbxo33 A C 12: 59,219,092 F130V probably damaging Het
Ffar3 T A 7: 30,855,104 N264Y probably damaging Het
Fig4 T C 10: 41,272,982 D158G probably damaging Het
Fyco1 A G 9: 123,819,153 F1239L probably damaging Het
Gabra2 A G 5: 71,092,099 probably benign Het
Gabra6 C A 11: 42,315,017 R336S probably benign Het
Gm9268 A G 7: 43,047,409 Y630C probably damaging Het
Hkdc1 T C 10: 62,398,673 D581G probably damaging Het
Iqgap1 A G 7: 80,725,573 probably benign Het
Larp4b T C 13: 9,166,309 probably benign Het
Lcp1 A T 14: 75,199,387 M58L probably benign Het
Lrrc8a T C 2: 30,256,350 V392A possibly damaging Het
Mavs A T 2: 131,246,764 Y496F probably damaging Het
Mpi A T 9: 57,550,614 S102T probably damaging Het
Mroh9 G A 1: 163,066,124 R161W possibly damaging Het
Myo1h A T 5: 114,320,686 S161C probably damaging Het
Napg T G 18: 62,994,338 H204Q probably benign Het
Nelfcd C A 2: 174,423,014 A182D probably benign Het
Ntsr2 G T 12: 16,654,030 K91N probably damaging Het
Obscn A G 11: 59,081,819 S2134P probably damaging Het
Ogfod2 G A 5: 124,113,476 probably benign Het
Olfr385 G T 11: 73,589,144 T198K probably benign Het
Olfr525 G A 7: 140,323,325 V209I probably benign Het
Pcdha8 T C 18: 36,994,070 V535A probably damaging Het
Pdlim2 C T 14: 70,164,779 R296H probably damaging Het
Pik3r1 T C 13: 101,686,358 probably null Het
Pimreg C A 11: 72,043,113 Q22K probably benign Het
Pld5 A G 1: 176,044,896 I225T probably damaging Het
Plxnc1 T C 10: 94,831,333 probably benign Het
Ppip5k2 A T 1: 97,749,652 C306* probably null Het
Ptprc A G 1: 138,092,930 Y588H probably damaging Het
Rac2 T G 15: 78,565,945 D65A possibly damaging Het
Rgl3 A G 9: 21,977,380 probably null Het
Serpinb1a T C 13: 32,843,216 K248E probably benign Het
Serpinb9e A C 13: 33,259,774 E259A probably benign Het
Slc12a4 A T 8: 105,951,900 V266E probably damaging Het
Slc8b1 A G 5: 120,524,195 probably benign Het
Smim4 G T 14: 31,088,996 probably benign Het
Spink6 T C 18: 44,071,538 probably benign Het
Spta1 G A 1: 174,184,690 R354H probably damaging Het
Ssb T A 2: 69,870,565 S330T probably benign Het
Stard9 G T 2: 120,697,485 V1408F probably benign Het
Sypl2 T C 3: 108,216,756 T157A probably damaging Het
Tgfbr3 A T 5: 107,139,883 D483E probably damaging Het
Tnrc6a A G 7: 123,170,340 N451S possibly damaging Het
Tradd T C 8: 105,259,771 E123G probably damaging Het
Trim36 T C 18: 46,196,251 T41A probably damaging Het
Ttc30a2 C T 2: 75,978,031 A46T probably damaging Het
Ttll7 C T 3: 146,939,991 P535S probably damaging Het
Ubr4 C T 4: 139,437,198 probably benign Het
Vmn1r195 A G 13: 22,279,011 Y217C probably damaging Het
Vmn2r63 A C 7: 42,928,035 F360V probably damaging Het
Vmn2r78 G A 7: 86,954,380 V589M possibly damaging Het
Vrk2 A G 11: 26,483,331 probably benign Het
Other mutations in Sumf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Sumf2 APN 5 129854077 intron probably benign
IGL01285:Sumf2 APN 5 129849970 missense probably damaging 1.00
IGL02247:Sumf2 APN 5 129860145 missense probably damaging 0.98
IGL02348:Sumf2 APN 5 129859870 missense probably damaging 1.00
IGL03074:Sumf2 APN 5 129859833 splice site probably benign
R0105:Sumf2 UTSW 5 129849894 splice site probably benign
R0105:Sumf2 UTSW 5 129849894 splice site probably benign
R1219:Sumf2 UTSW 5 129854772 missense probably benign
R1565:Sumf2 UTSW 5 129859914 missense probably damaging 1.00
R1678:Sumf2 UTSW 5 129854716 missense possibly damaging 0.69
R1778:Sumf2 UTSW 5 129845068 unclassified probably benign
R2987:Sumf2 UTSW 5 129847084 missense possibly damaging 0.96
R3930:Sumf2 UTSW 5 129849979 missense probably benign 0.15
R6877:Sumf2 UTSW 5 129850026 missense probably damaging 1.00
R7060:Sumf2 UTSW 5 129854500 missense possibly damaging 0.66
R7326:Sumf2 UTSW 5 129862710 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTAGCTGAGGCAAGAGAGGTATGT -3'
(R):5'- TGTAAGCTGCGTTTCGGATCAATCT -3'

Sequencing Primer
(F):5'- ggagtcagaggcaggcag -3'
(R):5'- GCGTTTCGGATCAATCTCTCATAG -3'
Posted On2013-09-30