Incidental Mutation 'IGL03069:Arsg'
ID409826
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 #IGL03069
Quality Score
Status
Chromosome11
Chromosomal Location109473374-109573330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 109563256 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 429 (K429N)
Ref Sequence ENSEMBL: ENSMUSP00000102308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020928] [ENSMUST00000106696] [ENSMUST00000106697]
Predicted Effect probably damaging
Transcript: ENSMUST00000020928
AA Change: K429N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020928
Gene: ENSMUSG00000020604
AA Change: K429N

DomainStartEndE-ValueType
Pfam:Sulfatase 36 378 2e-69 PFAM
Pfam:Sulfatase_C 401 522 2.9e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106696
AA Change: K106N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102307
Gene: ENSMUSG00000020604
AA Change: K106N

DomainStartEndE-ValueType
Pfam:Sulfatase 3 55 3.8e-11 PFAM
Pfam:Sulfatase_C 78 199 5.8e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106697
AA Change: K429N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102308
Gene: ENSMUSG00000020604
AA Change: K429N

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T G 8: 13,557,704 probably null Het
Acpp T C 9: 104,320,005 E145G possibly damaging Het
Ankrd28 T A 14: 31,755,786 K42* probably null Het
Bsn G A 9: 108,114,263 T1430I probably damaging Het
Calu A G 6: 29,356,583 D36G possibly damaging Het
Ccdc18 T C 5: 108,228,901 S1403P probably damaging Het
Cdca2 A G 14: 67,714,936 probably benign Het
Cfh C A 1: 140,099,055 probably benign Het
Cyp2c69 C T 19: 39,881,093 G161S probably benign Het
Dennd4c C A 4: 86,774,437 Y61* probably null Het
Diaph3 A G 14: 86,772,119 S1075P probably damaging Het
Dpp7 T A 2: 25,355,723 probably null Het
Dtd1 T A 2: 144,747,061 probably benign Het
Dtl C A 1: 191,556,896 probably benign Het
Exoc3l4 A G 12: 111,424,023 D344G probably damaging Het
Hsp90ab1 A T 17: 45,569,028 C159S possibly damaging Het
Kcnip2 T C 19: 45,796,271 probably benign Het
Krba1 A G 6: 48,414,549 T755A possibly damaging Het
L2hgdh C T 12: 69,692,399 V433I probably benign Het
Lamc1 A T 1: 153,239,381 L1050I probably damaging Het
Lgals4 A T 7: 28,840,918 I213L probably benign Het
Lysmd1 A G 3: 95,137,634 I64V probably damaging Het
Mfsd4b4 A C 10: 39,892,315 C261G probably benign Het
Mrgprb3 T A 7: 48,643,450 I118F possibly damaging Het
Mtmr2 T A 9: 13,793,205 Y137* probably null Het
Ofcc1 A T 13: 40,072,664 H797Q probably benign Het
Olfr1176 C T 2: 88,340,299 probably null Het
Olfr935 A T 9: 38,995,432 M1K probably null Het
Omd A T 13: 49,592,394 probably benign Het
Polr3a T A 14: 24,461,740 D916V probably damaging Het
Prpf38a T C 4: 108,575,431 Y117C probably damaging Het
Scn11a C T 9: 119,789,963 G771D probably benign Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Snx1 T A 9: 66,094,624 I306F probably benign Het
Snx31 T A 15: 36,525,603 R317* probably null Het
Sorl1 T C 9: 41,991,426 T1612A probably benign Het
Spag1 G T 15: 36,224,099 probably benign Het
Sssca1 G T 19: 5,730,422 L183I possibly damaging Het
Stambp A G 6: 83,561,932 F162S probably damaging Het
Tkfc T A 19: 10,599,154 M122L probably benign Het
Tnni3k T A 3: 154,941,605 probably null Het
Trim56 T C 5: 137,113,762 Q300R probably damaging Het
Ttc24 T A 3: 88,070,101 T113S probably benign Het
Xirp2 A T 2: 67,509,532 T706S possibly damaging Het
Yipf5 T A 18: 40,206,237 probably benign Het
Zfp202 T C 9: 40,211,399 S486P probably damaging Het
Zfp407 A G 18: 84,350,975 S1676P probably damaging Het
Other mutations in Arsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Arsg APN 11 109525446 missense possibly damaging 0.88
IGL02257:Arsg APN 11 109521647 splice site probably benign
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 On2016-08-02