Incidental Mutation 'IGL02093:Arsg'
ID 279479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arsg
Ensembl Gene ENSMUSG00000020604
Gene Name arylsulfatase G
Synonyms 6330406P08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02093
Quality Score
Status
Chromosome 11
Chromosomal Location 109364200-109464156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109416272 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3TYD4
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: 173,160,396 (GRCm39) Y41F probably benign Het
Amigo1 T C 3: 108,095,214 (GRCm39) Y238H probably benign Het
Ankrd17 A G 5: 90,390,822 (GRCm39) S2283P possibly damaging Het
Apobec4 A G 1: 152,632,119 (GRCm39) H49R possibly damaging Het
Arhgap44 T C 11: 64,965,360 (GRCm39) K34R probably damaging Het
Arv1 C A 8: 125,457,617 (GRCm39) L56M probably damaging Het
B3glct A T 5: 149,656,150 (GRCm39) R194S probably benign Het
Ccdc39 T A 3: 33,886,717 (GRCm39) Y297F probably benign Het
Dnah8 A G 17: 30,936,854 (GRCm39) E1552G probably damaging Het
Dnajb9 T C 12: 44,253,987 (GRCm39) H140R probably damaging Het
Dock5 T G 14: 68,076,992 (GRCm39) probably benign Het
Egr2 G A 10: 67,375,854 (GRCm39) G92D probably damaging Het
Evi2a G A 11: 79,418,490 (GRCm39) S40L probably benign Het
Fshr A G 17: 89,309,317 (GRCm39) probably null Het
Glce G A 9: 61,977,821 (GRCm39) T21I probably damaging Het
Gucy2d C A 7: 98,092,755 (GRCm39) S44* probably null Het
Heatr5a T C 12: 51,962,858 (GRCm39) E1014G possibly damaging Het
Hnrnpll A T 17: 80,351,933 (GRCm39) H337Q probably benign Het
Jhy G T 9: 40,856,163 (GRCm39) probably null Het
Kat5 A T 19: 5,653,903 (GRCm39) M427K probably benign Het
Lama5 G A 2: 179,830,380 (GRCm39) P1876S probably damaging Het
Lamc3 C A 2: 31,777,667 (GRCm39) H104Q probably damaging Het
Lcn5 T C 2: 25,548,462 (GRCm39) Y84H probably damaging Het
Mageb18 T A X: 91,163,872 (GRCm39) K123N probably damaging Het
Mfhas1 T A 8: 36,056,498 (GRCm39) N324K probably damaging Het
Nagk T C 6: 83,776,352 (GRCm39) F189S probably damaging Het
Nbas T A 12: 13,610,963 (GRCm39) M2218K probably benign Het
Nuak2 C A 1: 132,259,850 (GRCm39) P543T probably benign Het
Or2ag17 C T 7: 106,390,030 (GRCm39) M59I probably benign Het
Or5bh3 C T X: 49,098,705 (GRCm39) M136I possibly damaging Het
Prl8a9 T C 13: 27,743,436 (GRCm39) Y123C probably damaging Het
Rapgef5 T C 12: 117,682,867 (GRCm39) F220S probably damaging Het
Rexo4 T C 2: 26,852,530 (GRCm39) D135G probably benign Het
Slc39a10 C T 1: 46,874,369 (GRCm39) R311Q probably damaging Het
Slfn10-ps A T 11: 82,923,016 (GRCm39) noncoding transcript Het
Tfrc A G 16: 32,449,012 (GRCm39) E717G probably benign Het
Tg T A 15: 66,564,223 (GRCm39) N1141K possibly damaging Het
Topors T C 4: 40,261,467 (GRCm39) S606G probably damaging Het
Usp11 A G X: 20,585,591 (GRCm39) D827G probably benign Het
Vmn2r1 A T 3: 64,012,130 (GRCm39) M664L probably benign Het
Vmn2r14 A T 5: 109,368,275 (GRCm39) M239K possibly damaging Het
Xiap T C X: 41,188,704 (GRCm39) probably benign Het
Zfp2 G A 11: 50,791,831 (GRCm39) P71S probably benign Het
Zhx1 T A 15: 57,916,264 (GRCm39) T661S probably benign Het
Other mutations in Arsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02257:Arsg APN 11 109,412,473 (GRCm39) splice site probably benign
IGL03069:Arsg APN 11 109,454,082 (GRCm39) missense probably damaging 1.00
R0421:Arsg UTSW 11 109,418,592 (GRCm39) missense probably damaging 1.00
R1235:Arsg UTSW 11 109,424,933 (GRCm39) critical splice donor site probably null
R1830:Arsg UTSW 11 109,454,100 (GRCm39) critical splice donor site probably null
R2831:Arsg UTSW 11 109,416,275 (GRCm39) missense possibly damaging 0.61
R4573:Arsg UTSW 11 109,408,108 (GRCm39) missense probably damaging 1.00
R4780:Arsg UTSW 11 109,424,839 (GRCm39) missense possibly damaging 0.80
R4811:Arsg UTSW 11 109,424,898 (GRCm39) missense probably benign 0.00
R5510:Arsg UTSW 11 109,418,700 (GRCm39) missense probably benign 0.33
R5861:Arsg UTSW 11 109,454,014 (GRCm39) missense probably damaging 1.00
R5944:Arsg UTSW 11 109,426,137 (GRCm39) missense probably damaging 0.99
R6502:Arsg UTSW 11 109,408,162 (GRCm39) missense probably damaging 1.00
R6962:Arsg UTSW 11 109,412,495 (GRCm39) missense probably damaging 1.00
R9005:Arsg UTSW 11 109,381,346 (GRCm39) missense probably benign
R9240:Arsg UTSW 11 109,463,093 (GRCm39) missense probably benign
R9748:Arsg UTSW 11 109,381,452 (GRCm39) missense probably damaging 1.00
X0019:Arsg UTSW 11 109,454,079 (GRCm39) nonsense probably null
Posted On 2015-04-16