Incidental Mutation 'R0421:Arsg'
ID 37081
Institutional Source Beutler Lab
Gene Symbol Arsg
Ensembl Gene ENSMUSG00000020604
Gene Name arylsulfatase G
Synonyms 6330406P08Rik
MMRRC Submission 038623-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0421 (G1)
Quality Score 220
Status Validated
Chromosome 11
Chromosomal Location 109364200-109464156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109418592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 196 (Y196C)
Ref Sequence ENSEMBL: ENSMUSP00000102308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020928] [ENSMUST00000106697]
AlphaFold Q3TYD4
Predicted Effect probably damaging
Transcript: ENSMUST00000020928
AA Change: Y196C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020928
Gene: ENSMUSG00000020604
AA Change: Y196C

DomainStartEndE-ValueType
Pfam:Sulfatase 36 378 2e-69 PFAM
Pfam:Sulfatase_C 401 522 2.9e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106697
AA Change: Y196C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102308
Gene: ENSMUSG00000020604
AA Change: Y196C

DomainStartEndE-ValueType
Pfam:Sulfatase 36 378 2e-69 PFAM
Pfam:Sulfatase_C 401 522 4.7e-25 PFAM
Meta Mutation Damage Score 0.1829 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 97% (67/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 G A 2: 22,850,839 (GRCm39) T195I probably damaging Het
Afap1l1 T C 18: 61,884,945 (GRCm39) N180S probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atp2b2 C A 6: 113,790,849 (GRCm39) R185L probably damaging Het
Ccr9 A T 9: 123,608,671 (GRCm39) M118L probably benign Het
Cdh12 A T 15: 21,480,310 (GRCm39) probably null Het
Cdk13 T C 13: 17,937,755 (GRCm39) S763G probably damaging Het
Cenpk C A 13: 104,378,911 (GRCm39) N177K probably benign Het
Cfap43 T G 19: 47,824,014 (GRCm39) N119T probably benign Het
Chrna6 T C 8: 27,898,415 (GRCm39) E101G probably null Het
Clasp2 G A 9: 113,683,370 (GRCm39) R400H probably benign Het
Col6a6 T C 9: 105,661,405 (GRCm39) M235V probably benign Het
Ddx49 A T 8: 70,748,282 (GRCm39) L291Q probably damaging Het
Dhrs7 A T 12: 72,699,860 (GRCm39) probably benign Het
Dnah5 A T 15: 28,229,687 (GRCm39) K107M possibly damaging Het
Dsg2 C T 18: 20,712,448 (GRCm39) R151C probably damaging Het
Dsn1 T C 2: 156,847,789 (GRCm39) T2A possibly damaging Het
Edem3 A G 1: 151,668,189 (GRCm39) probably benign Het
Eif3c T C 7: 126,162,884 (GRCm39) N133S possibly damaging Het
F10 A G 8: 13,095,097 (GRCm39) K85E probably benign Het
Fbn2 T A 18: 58,160,876 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,607,290 (GRCm39) H50Q probably benign Het
Hephl1 A G 9: 14,970,456 (GRCm39) F1013L probably benign Het
Hps3 C A 3: 20,083,480 (GRCm39) V238F probably benign Het
Kcna10 A C 3: 107,101,820 (GRCm39) K150N probably damaging Het
Kirrel1 C T 3: 86,990,914 (GRCm39) G636D probably damaging Het
Kndc1 G A 7: 139,488,912 (GRCm39) R189H probably damaging Het
Knop1 C T 7: 118,454,852 (GRCm39) E50K possibly damaging Het
Kplce T C 3: 92,776,291 (GRCm39) T131A probably damaging Het
Kpna7 T A 5: 144,926,551 (GRCm39) H467L possibly damaging Het
Lcn4 T C 2: 26,558,661 (GRCm39) N142D possibly damaging Het
Map3k3 T C 11: 106,039,741 (GRCm39) probably benign Het
Mdn1 A G 4: 32,684,707 (GRCm39) T806A probably benign Het
Nbeal1 T A 1: 60,307,598 (GRCm39) N1703K probably benign Het
Neurl4 T C 11: 69,799,360 (GRCm39) V914A probably damaging Het
Niban1 T A 1: 151,584,833 (GRCm39) probably benign Het
Nop56 T C 2: 130,118,692 (GRCm39) S275P possibly damaging Het
Or1j20 A G 2: 36,759,653 (GRCm39) E25G possibly damaging Het
Or52ac1 A G 7: 104,245,929 (GRCm39) V153A probably benign Het
Or7e174 A G 9: 20,012,771 (GRCm39) K239E probably damaging Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Pappa2 A T 1: 158,675,650 (GRCm39) I1032N probably damaging Het
Pcdh7 A G 5: 57,877,402 (GRCm39) E319G probably damaging Het
Pcdhb11 T A 18: 37,555,533 (GRCm39) S288T probably benign Het
Phip A T 9: 82,808,510 (GRCm39) D488E probably damaging Het
Pla2g7 A T 17: 43,922,303 (GRCm39) H394L probably damaging Het
Plk3 A G 4: 116,990,641 (GRCm39) V69A probably damaging Het
Prob1 C A 18: 35,786,083 (GRCm39) A724S possibly damaging Het
Prune2 T C 19: 17,100,675 (GRCm39) F2060L probably benign Het
Rgl3 G A 9: 21,887,328 (GRCm39) R498C probably benign Het
Rnf213 A C 11: 119,338,083 (GRCm39) N3362H probably damaging Het
Sbds A G 5: 130,282,774 (GRCm39) probably benign Het
Scn9a T C 2: 66,373,621 (GRCm39) S453G probably benign Het
Sh3rf3 T C 10: 58,819,897 (GRCm39) L236P probably damaging Het
Skint1 A G 4: 111,876,211 (GRCm39) N44S possibly damaging Het
Slc5a1 T A 5: 33,291,996 (GRCm39) I141N probably damaging Het
Tlcd3b G A 7: 126,424,187 (GRCm39) V44M probably damaging Het
Trank1 T A 9: 111,220,907 (GRCm39) I2548N probably damaging Het
Tsc22d2 G A 3: 58,324,749 (GRCm39) probably benign Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vmn2r11 T G 5: 109,207,294 (GRCm39) I9L probably benign Het
Vmn2r58 T G 7: 41,514,628 (GRCm39) N114H probably benign Het
Vps53 A G 11: 75,973,496 (GRCm39) L166P probably damaging Het
Zfp119a T A 17: 56,172,248 (GRCm39) K532* probably null Het
Zfp472 A G 17: 33,194,897 (GRCm39) T11A possibly damaging Het
Zfp512b T A 2: 181,230,051 (GRCm39) K87* probably null Het
Zfp518b G A 5: 38,831,918 (GRCm39) P29L probably damaging Het
Zfp599 A G 9: 22,161,843 (GRCm39) probably benign Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Arsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Arsg APN 11 109,416,272 (GRCm39) missense possibly damaging 0.88
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
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
Predicted Primers PCR Primer
(F):5'- GTACCCACAGTACCCATTGTTGCTC -3'
(R):5'- AAACTCTGCCTCAGTCCTGGCAAG -3'

Sequencing Primer
(F):5'- GGTAGACTACTGAATGGTTCACACC -3'
(R):5'- GTCAGGAAGACTTGGTAGGTG -3'
Posted On 2013-05-09