Incidental Mutation 'IGL02093:Arsg'
ID279479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arsg
Ensembl Gene ENSMUSG00000020604
Gene Namearylsulfatase G
Synonyms6330406P08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02093
Quality Score
Status
Chromosome11
Chromosomal Location109473374-109573330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109525446 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 173 (Y173C)
Ref Sequence ENSEMBL: ENSMUSP00000102308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020928] [ENSMUST00000106697]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020928
AA Change: Y173C

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020928
Gene: ENSMUSG00000020604
AA Change: Y173C

DomainStartEndE-ValueType
Pfam:Sulfatase 36 378 2e-69 PFAM
Pfam:Sulfatase_C 401 522 2.9e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106697
AA Change: Y173C

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102308
Gene: ENSMUSG00000020604
AA Change: Y173C

DomainStartEndE-ValueType
Pfam:Sulfatase 36 378 2e-69 PFAM
Pfam:Sulfatase_C 401 522 4.7e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a null mutation display lysosomal storage pathology in the nervous system and peripheral tissues, including the liver and kidneys, resulting in Purkinje cell loss and age dependent cognitive impairment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,332,829 Y41F probably benign Het
Amigo1 T C 3: 108,187,898 Y238H probably benign Het
Ankrd17 A G 5: 90,242,963 S2283P possibly damaging Het
Apobec4 A G 1: 152,756,368 H49R possibly damaging Het
Arhgap44 T C 11: 65,074,534 K34R probably damaging Het
Arv1 C A 8: 124,730,878 L56M probably damaging Het
B3glct A T 5: 149,732,685 R194S probably benign Het
Ccdc39 T A 3: 33,832,568 Y297F probably benign Het
Dnah8 A G 17: 30,717,880 E1552G probably damaging Het
Dnajb9 T C 12: 44,207,204 H140R probably damaging Het
Dock5 T G 14: 67,839,543 probably benign Het
Egr2 G A 10: 67,540,024 G92D probably damaging Het
Evi2a G A 11: 79,527,664 S40L probably benign Het
Fshr A G 17: 89,001,889 probably null Het
Glce G A 9: 62,070,539 T21I probably damaging Het
Gucy2d C A 7: 98,443,548 S44* probably null Het
Heatr5a T C 12: 51,916,075 E1014G possibly damaging Het
Hnrnpll A T 17: 80,044,504 H337Q probably benign Het
Jhy G T 9: 40,944,867 probably null Het
Kat5 A T 19: 5,603,875 M427K probably benign Het
Lama5 G A 2: 180,188,587 P1876S probably damaging Het
Lamc3 C A 2: 31,887,655 H104Q probably damaging Het
Lcn5 T C 2: 25,658,450 Y84H probably damaging Het
Mageb18 T A X: 92,120,266 K123N probably damaging Het
Mfhas1 T A 8: 35,589,344 N324K probably damaging Het
Nagk T C 6: 83,799,370 F189S probably damaging Het
Nbas T A 12: 13,560,962 M2218K probably benign Het
Nuak2 C A 1: 132,332,112 P543T probably benign Het
Olfr1323 C T X: 50,009,828 M136I possibly damaging Het
Olfr699 C T 7: 106,790,823 M59I probably benign Het
Prl8a9 T C 13: 27,559,453 Y123C probably damaging Het
Rapgef5 T C 12: 117,719,132 F220S probably damaging Het
Rexo4 T C 2: 26,962,518 D135G probably benign Het
Slc39a10 C T 1: 46,835,209 R311Q probably damaging Het
Slfn10-ps A T 11: 83,032,190 noncoding transcript Het
Tfrc A G 16: 32,630,194 E717G probably benign Het
Tg T A 15: 66,692,374 N1141K possibly damaging Het
Topors T C 4: 40,261,467 S606G probably damaging Het
Usp11 A G X: 20,719,352 D827G probably benign Het
Vmn2r1 A T 3: 64,104,709 M664L probably benign Het
Vmn2r14 A T 5: 109,220,409 M239K possibly damaging Het
Xiap T C X: 42,099,827 probably benign Het
Zfp2 G A 11: 50,901,004 P71S probably benign Het
Zhx1 T A 15: 58,052,868 T661S probably benign Het
Other mutations in Arsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02257:Arsg APN 11 109521647 splice site probably benign
IGL03069:Arsg APN 11 109563256 missense probably damaging 1.00
R0421:Arsg UTSW 11 109527766 missense probably damaging 1.00
R1235:Arsg UTSW 11 109534107 critical splice donor site probably null
R1830:Arsg UTSW 11 109563274 critical splice donor site probably null
R2831:Arsg UTSW 11 109525449 missense possibly damaging 0.61
R4573:Arsg UTSW 11 109517282 missense probably damaging 1.00
R4780:Arsg UTSW 11 109534013 missense possibly damaging 0.80
R4811:Arsg UTSW 11 109534072 missense probably benign 0.00
R5510:Arsg UTSW 11 109527874 missense probably benign 0.33
R5861:Arsg UTSW 11 109563188 missense probably damaging 1.00
R5944:Arsg UTSW 11 109535311 missense probably damaging 0.99
R6502:Arsg UTSW 11 109517336 missense probably damaging 1.00
R6962:Arsg UTSW 11 109521669 missense probably damaging 1.00
X0019:Arsg UTSW 11 109563253 nonsense probably null
Posted On2015-04-16