Incidental Mutation 'R1565:Sumf2'
ID175191
Institutional Source Beutler Lab
Gene Symbol Sumf2
Ensembl Gene ENSMUSG00000025538
Gene Namesulfatase modifying factor 2
Synonyms2610040F05Rik
MMRRC Submission 039604-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #R1565 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location129846986-129864050 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 129859914 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 230 (N230K)
Ref Sequence ENSEMBL: ENSMUSP00000126036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026617] [ENSMUST00000137357] [ENSMUST00000171300]
Predicted Effect probably benign
Transcript: ENSMUST00000026617
SMART Domains Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537

DomainStartEndE-ValueType
S_TKc 20 288 3.79e-106 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122826
Predicted Effect probably benign
Transcript: ENSMUST00000137357
SMART Domains Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538

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 damaging
Transcript: ENSMUST00000171300
AA Change: N230K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538
AA Change: N230K

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:FGE-sulfatase 34 299 3.9e-88 PFAM
Meta Mutation Damage Score 0.6981 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 96% (82/85)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,880,501 G270S probably benign Het
Abtb1 T C 6: 88,836,554 T401A probably benign Het
Adamts14 A T 10: 61,270,897 M148K probably damaging Het
Adcy5 A G 16: 35,268,957 E508G probably damaging Het
Ankfy1 T A 11: 72,757,318 L875H probably damaging Het
Cacng3 A T 7: 122,768,401 D168V probably damaging Het
Clpb G A 7: 101,785,461 R488Q probably benign Het
Cpxm2 A T 7: 132,062,145 Y350N probably damaging Het
D130040H23Rik T A 8: 69,303,160 *406R probably null Het
Dnah10 T A 5: 124,829,614 D4236E probably damaging Het
Dpf3 T A 12: 83,370,617 Y27F probably damaging Het
Esp4 T C 17: 40,602,595 *118Q probably null Het
Fam222b T C 11: 78,154,662 S222P possibly damaging Het
Flnc T C 6: 29,455,171 V1933A probably damaging Het
Gem T C 4: 11,713,709 F282L possibly damaging Het
Gli2 T C 1: 118,841,930 T631A possibly damaging Het
Gm13088 G A 4: 143,655,617 Q170* probably null Het
Gpld1 T A 13: 24,956,068 V116E probably damaging Het
Gpr176 A G 2: 118,280,214 M188T probably benign Het
Grk5 T C 19: 61,089,972 V489A probably damaging Het
H2-Ke6 C T 17: 34,027,495 V105I possibly damaging Het
Hpdl T C 4: 116,820,883 N127S probably damaging Het
Id4 G T 13: 48,262,294 V151L possibly damaging Het
Kcnh8 G T 17: 52,956,881 G802V probably benign Het
Lamc1 C A 1: 153,242,743 S894I probably benign Het
Larp1b A G 3: 40,972,384 N184S probably damaging Het
Lhx1 A T 11: 84,519,821 S226T probably benign Het
Lmo7 A T 14: 101,887,521 Q472L probably damaging Het
Mog G C 17: 37,017,582 N152K possibly damaging Het
Mttp A G 3: 138,116,405 probably null Het
Mycbp2 A G 14: 103,252,509 V953A possibly damaging Het
Myo3a A T 2: 22,340,280 Y509F probably damaging Het
Myo9b A G 8: 71,315,192 N303S possibly damaging Het
Nek3 T C 8: 22,132,201 probably null Het
Nlrc4 A T 17: 74,441,931 D771E probably benign Het
Nup160 A T 2: 90,722,061 N1127I possibly damaging Het
Oas1h A T 5: 120,862,600 N91I probably damaging Het
Olfr1225 A T 2: 89,170,627 V195D probably benign Het
Olfr1226 G T 2: 89,193,883 S50R probably damaging Het
Olfr1342 T A 4: 118,690,192 N87Y probably damaging Het
Parp4 T C 14: 56,589,872 probably benign Het
Pi4ka G A 16: 17,281,900 C96Y probably null Het
Pira2 A T 7: 3,844,549 F47Y probably damaging Het
Pkhd1 C A 1: 20,347,457 G2490V probably damaging Het
Plekhg1 C T 10: 3,940,526 T394I probably damaging Het
Psmd1 T C 1: 86,091,997 probably benign Het
Rab3ip A T 10: 116,939,223 C77S probably benign Het
Reln A T 5: 21,925,213 M2700K probably benign Het
Rfx1 A G 8: 84,073,946 T59A probably benign Het
Ric8b G T 10: 84,980,099 V405L probably benign Het
Rufy3 G T 5: 88,640,632 A479S probably damaging Het
Sardh A T 2: 27,242,719 Y166N probably damaging Het
Slamf6 T G 1: 171,934,408 V132G possibly damaging Het
Slc12a3 T G 8: 94,345,877 H674Q possibly damaging Het
Sned1 G A 1: 93,281,654 V830M possibly damaging Het
Srsf9 A G 5: 115,327,370 N21S possibly damaging Het
Stkld1 A T 2: 26,950,090 T391S probably benign Het
Tbc1d22a T C 15: 86,235,569 V22A possibly damaging Het
Thsd7b T A 1: 129,596,041 S194T possibly damaging Het
Tmem27 A G X: 164,118,234 D184G possibly damaging Het
Tnn T A 1: 160,097,265 Y1173F probably damaging Het
Top2a A G 11: 99,001,054 F1122L probably damaging Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Trim39 G A 17: 36,268,854 R70W probably damaging Het
Ttn G A 2: 76,794,261 T15289I probably damaging Het
Ugt2b38 A T 5: 87,411,914 V373E probably damaging Het
Usp54 A G 14: 20,607,159 S24P probably damaging Het
Vmn2r27 C T 6: 124,231,634 G51S probably benign Het
Xylt2 C T 11: 94,667,594 A579T probably benign Het
Zbtb21 A G 16: 97,952,427 S247P probably benign Het
Zc3h7b C T 15: 81,777,088 P376L probably benign Het
Zfp251 T A 15: 76,853,038 R613S probably damaging Het
Zfp251 C T 15: 76,853,039 R613K possibly damaging Het
Zfp91 T C 19: 12,779,075 D135G 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
R0751:Sumf2 UTSW 5 129850005 missense probably benign 0.45
R1219:Sumf2 UTSW 5 129854772 missense probably benign
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
R7949:Sumf2 UTSW 5 129852918 missense probably damaging 1.00
R8291:Sumf2 UTSW 5 129858297 critical splice donor site probably null
R8356:Sumf2 UTSW 5 129860162 missense possibly damaging 0.84
R8456:Sumf2 UTSW 5 129860162 missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GTCCTTCTGCTTACAGAGTGAGCC -3'
(R):5'- TGCCCATGAGGTCATACAGTCCTAC -3'

Sequencing Primer
(F):5'- TTACAGAGTGAGCCGTCTCC -3'
(R):5'- GGTCATACAGTCCTACAGAGTAGC -3'
Posted On2014-04-24