Incidental Mutation 'R2969:Arsj'
ID 477524
Institutional Source Beutler Lab
Gene Symbol Arsj
Ensembl Gene ENSMUSG00000046561
Gene Name arylsulfatase J
Synonyms 9330196J05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R2969 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 126157566-126234025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126233021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 589 (I589T)
Ref Sequence ENSEMBL: ENSMUSP00000091511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093976]
AlphaFold Q8BM89
Predicted Effect probably benign
Transcript: ENSMUST00000093976
AA Change: I589T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: I589T

DomainStartEndE-ValueType
Pfam:Sulfatase 74 388 8.4e-68 PFAM
low complexity region 554 582 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199285
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A G 10: 69,830,225 (GRCm39) T137A probably damaging Het
Antxr2 A T 5: 98,178,275 (GRCm39) L45* probably null Het
Armc1 T C 3: 19,189,024 (GRCm39) S214G probably benign Het
C8a A G 4: 104,710,974 (GRCm39) S230P probably damaging Het
Cnga3 A G 1: 37,300,159 (GRCm39) Y331C probably damaging Het
Gm21976 A G 13: 98,423,790 (GRCm39) Y33C unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gtf2i A G 5: 134,280,746 (GRCm39) V556A probably damaging Het
Ighv8-12 C T 12: 115,611,570 (GRCm39) R118Q probably benign Het
Ing4 A G 6: 125,024,288 (GRCm39) K131E probably benign Het
Mrgprb5 T A 7: 47,818,317 (GRCm39) R139S probably damaging Het
Nap1l2 A T X: 102,229,254 (GRCm39) D221E probably benign Het
Nepn A T 10: 52,276,983 (GRCm39) R179* probably null Het
Nrxn3 G A 12: 89,321,241 (GRCm39) C383Y probably damaging Het
Pfpl G T 19: 12,406,907 (GRCm39) R386L probably benign Het
Rere A G 4: 150,654,673 (GRCm39) K402E unknown Het
Serpina3n C T 12: 104,375,333 (GRCm39) T135M probably benign Het
Slc43a1 C T 2: 84,687,679 (GRCm39) T395I probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Vmn1r128 T A 7: 21,084,046 (GRCm39) V250D probably damaging Het
Other mutations in Arsj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Arsj APN 3 126,158,594 (GRCm39) missense probably benign 0.00
IGL01150:Arsj APN 3 126,232,433 (GRCm39) missense probably benign
IGL01337:Arsj APN 3 126,158,763 (GRCm39) missense probably damaging 1.00
IGL01446:Arsj APN 3 126,232,463 (GRCm39) missense probably benign 0.01
IGL01484:Arsj APN 3 126,158,685 (GRCm39) missense probably damaging 1.00
IGL02479:Arsj APN 3 126,232,588 (GRCm39) missense possibly damaging 0.91
IGL03149:Arsj APN 3 126,233,053 (GRCm39) utr 3 prime probably benign
R0552:Arsj UTSW 3 126,232,993 (GRCm39) missense probably benign 0.01
R0690:Arsj UTSW 3 126,231,833 (GRCm39) missense probably damaging 0.99
R1809:Arsj UTSW 3 126,231,944 (GRCm39) missense possibly damaging 0.87
R1881:Arsj UTSW 3 126,232,486 (GRCm39) missense probably damaging 1.00
R1940:Arsj UTSW 3 126,231,995 (GRCm39) missense probably damaging 1.00
R1957:Arsj UTSW 3 126,232,670 (GRCm39) missense probably benign 0.08
R2156:Arsj UTSW 3 126,232,337 (GRCm39) missense probably damaging 1.00
R3432:Arsj UTSW 3 126,158,624 (GRCm39) missense probably benign 0.00
R4623:Arsj UTSW 3 126,158,445 (GRCm39) missense probably benign 0.00
R4826:Arsj UTSW 3 126,232,451 (GRCm39) missense probably damaging 1.00
R4955:Arsj UTSW 3 126,232,189 (GRCm39) missense probably benign 0.15
R5134:Arsj UTSW 3 126,231,803 (GRCm39) missense probably benign
R5164:Arsj UTSW 3 126,231,808 (GRCm39) missense probably benign 0.00
R5468:Arsj UTSW 3 126,232,037 (GRCm39) missense possibly damaging 0.52
R5664:Arsj UTSW 3 126,232,306 (GRCm39) missense probably damaging 1.00
R6136:Arsj UTSW 3 126,158,424 (GRCm39) start codon destroyed probably null 0.07
R7030:Arsj UTSW 3 126,232,752 (GRCm39) missense probably damaging 1.00
R7036:Arsj UTSW 3 126,158,649 (GRCm39) missense probably damaging 0.99
R7064:Arsj UTSW 3 126,231,986 (GRCm39) missense probably damaging 1.00
R7503:Arsj UTSW 3 126,158,493 (GRCm39) missense probably benign
R7555:Arsj UTSW 3 126,231,885 (GRCm39) nonsense probably null
R7956:Arsj UTSW 3 126,232,151 (GRCm39) missense probably damaging 1.00
R8765:Arsj UTSW 3 126,232,781 (GRCm39) missense probably benign 0.00
R9218:Arsj UTSW 3 126,232,114 (GRCm39) missense probably benign 0.00
R9368:Arsj UTSW 3 126,232,745 (GRCm39) missense probably damaging 1.00
R9675:Arsj UTSW 3 126,231,765 (GRCm39) missense probably damaging 1.00
R9707:Arsj UTSW 3 126,232,160 (GRCm39) missense possibly damaging 0.72
X0022:Arsj UTSW 3 126,158,615 (GRCm39) missense possibly damaging 0.52
Z1088:Arsj UTSW 3 126,232,781 (GRCm39) missense possibly damaging 0.93
Z1177:Arsj UTSW 3 126,232,558 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-05-15