Incidental Mutation 'IGL00534:Arsj'
ID6758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arsj
Ensembl Gene ENSMUSG00000046561
Gene Namearylsulfatase J
Synonyms9330196J05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL00534
Quality Score
Status
Chromosome3
Chromosomal Location126363684-126440375 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 126364945 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 58 (A58S)
Ref Sequence ENSEMBL: ENSMUSP00000091511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093976]
Predicted Effect probably benign
Transcript: ENSMUST00000093976
AA Change: A58S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: A58S

DomainStartEndE-ValueType
Pfam:Sulfatase 74 388 8.4e-68 PFAM
low complexity region 554 582 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dchs1 A T 7: 105,757,943 S2148T probably benign Het
Esd T C 14: 74,738,461 V34A probably damaging Het
Esyt1 A G 10: 128,515,684 probably null Het
Glce G A 9: 62,060,483 T462M probably damaging Het
Gm382 A G X: 127,063,615 Y1141C probably damaging Het
Gm8909 A T 17: 36,168,129 I76N probably damaging Het
Hsd3b1 T C 3: 98,853,246 E143G probably damaging Het
Igf2r T C 17: 12,739,328 T153A probably damaging Het
Irs1 A G 1: 82,288,471 S675P probably benign Het
Lars A T 18: 42,229,654 H573Q probably damaging Het
Lman2 T C 13: 55,351,242 E237G possibly damaging Het
Map2k4 C A 11: 65,719,479 probably benign Het
Pde6b T C 5: 108,426,571 probably benign Het
Pomgnt1 T C 4: 116,152,761 L136P probably damaging Het
Ralgapb T A 2: 158,430,500 M158K possibly damaging Het
Serpina3n A G 12: 104,412,345 E308G probably benign Het
Sgo2a T A 1: 58,016,344 N562K probably damaging Het
Sipa1l2 T C 8: 125,491,806 Y264C probably damaging Het
Snx27 G A 3: 94,561,972 H21Y probably damaging Het
Other mutations in Arsj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Arsj APN 3 126438784 missense probably benign
IGL01337:Arsj APN 3 126365114 missense probably damaging 1.00
IGL01446:Arsj APN 3 126438814 missense probably benign 0.01
IGL01484:Arsj APN 3 126365036 missense probably damaging 1.00
IGL02479:Arsj APN 3 126438939 missense possibly damaging 0.91
IGL03149:Arsj APN 3 126439404 utr 3 prime probably benign
R0552:Arsj UTSW 3 126439344 missense probably benign 0.01
R0690:Arsj UTSW 3 126438184 missense probably damaging 0.99
R1809:Arsj UTSW 3 126438295 missense possibly damaging 0.87
R1881:Arsj UTSW 3 126438837 missense probably damaging 1.00
R1940:Arsj UTSW 3 126438346 missense probably damaging 1.00
R1957:Arsj UTSW 3 126439021 missense probably benign 0.08
R2156:Arsj UTSW 3 126438688 missense probably damaging 1.00
R2969:Arsj UTSW 3 126439372 missense probably benign 0.01
R3432:Arsj UTSW 3 126364975 missense probably benign 0.00
R4623:Arsj UTSW 3 126364796 missense probably benign 0.00
R4826:Arsj UTSW 3 126438802 missense probably damaging 1.00
R4955:Arsj UTSW 3 126438540 missense probably benign 0.15
R5134:Arsj UTSW 3 126438154 missense probably benign
R5164:Arsj UTSW 3 126438159 missense probably benign 0.00
R5468:Arsj UTSW 3 126438388 missense possibly damaging 0.52
R5664:Arsj UTSW 3 126438657 missense probably damaging 1.00
R6136:Arsj UTSW 3 126364775 start codon destroyed probably null 0.07
R7030:Arsj UTSW 3 126439103 missense probably damaging 1.00
R7036:Arsj UTSW 3 126365000 missense probably damaging 0.99
R7064:Arsj UTSW 3 126438337 missense probably damaging 1.00
R7503:Arsj UTSW 3 126364844 missense probably benign
R7555:Arsj UTSW 3 126438236 nonsense probably null
X0022:Arsj UTSW 3 126364966 missense possibly damaging 0.52
Z1088:Arsj UTSW 3 126439132 missense possibly damaging 0.93
Posted On2012-04-20