Incidental Mutation 'R7555:Arsj'
ID 584672
Institutional Source Beutler Lab
Gene Symbol Arsj
Ensembl Gene ENSMUSG00000046561
Gene Name arylsulfatase J
Synonyms 9330196J05Rik
MMRRC Submission 045623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7555 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 126157566-126234025 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 126231885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 210 (C210*)
Ref Sequence ENSEMBL: ENSMUSP00000091511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093976]
AlphaFold Q8BM89
Predicted Effect probably null
Transcript: ENSMUST00000093976
AA Change: C210*
SMART Domains Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: C210*

DomainStartEndE-ValueType
Pfam:Sulfatase 74 388 8.4e-68 PFAM
low complexity region 554 582 N/A INTRINSIC
Meta Mutation Damage Score 0.9753 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (83/83)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T A 4: 144,248,924 (GRCm39) I97N probably damaging Het
Acvrl1 A G 15: 101,041,354 (GRCm39) H502R probably benign Het
Adgrf4 T C 17: 42,983,494 (GRCm39) S63G probably benign Het
Agbl2 C A 2: 90,621,899 (GRCm39) L129I probably damaging Het
Ankrd11 C A 8: 123,614,145 (GRCm39) A2542S probably damaging Het
Armc9 A G 1: 86,203,400 (GRCm39) K818R probably damaging Het
Aspscr1 C T 11: 120,563,926 (GRCm39) A11V unknown Het
Bicc1 G T 10: 70,792,121 (GRCm39) Q296K possibly damaging Het
Borcs5 A C 6: 134,662,942 (GRCm39) Q73P probably benign Het
Capn15 G T 17: 26,182,406 (GRCm39) D567E probably damaging Het
Catsperg1 A C 7: 28,889,239 (GRCm39) I866S probably damaging Het
Ccdc27 G T 4: 154,126,274 (GRCm39) H72N unknown Het
Ccser2 A T 14: 36,601,457 (GRCm39) M309K possibly damaging Het
Cd1d2 A G 3: 86,894,408 (GRCm39) S59G probably benign Het
Chml G A 1: 175,515,456 (GRCm39) P155L probably benign Het
Csmd2 C T 4: 128,346,251 (GRCm39) P1504S Het
Dcbld2 A G 16: 58,269,081 (GRCm39) probably null Het
Ddx21 C T 10: 62,434,022 (GRCm39) E246K probably benign Het
Dhx29 C T 13: 113,064,176 (GRCm39) probably benign Het
Dis3l A C 9: 64,219,219 (GRCm39) Y570* probably null Het
Dnah14 T A 1: 181,597,619 (GRCm39) Y3623N probably benign Het
Dock8 A G 19: 25,152,764 (GRCm39) D1610G probably damaging Het
Dync1h1 T C 12: 110,597,059 (GRCm39) S1669P probably benign Het
Eif1ad12 A C 12: 87,541,505 (GRCm39) K5N unknown Het
Eif2ak4 T A 2: 118,247,764 (GRCm39) I267N possibly damaging Het
Ern2 A T 7: 121,769,464 (GRCm39) V854E probably damaging Het
Fuca2 G A 10: 13,383,174 (GRCm39) probably null Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gm1110 T A 9: 26,804,924 (GRCm39) T380S probably benign Het
Golga2 G A 2: 32,178,178 (GRCm39) R29H probably benign Het
Grik5 T C 7: 24,760,022 (GRCm39) E259G probably benign Het
Grm3 T C 5: 9,620,000 (GRCm39) T415A probably benign Het
Gtf3c1 A G 7: 125,244,842 (GRCm39) Y1731H probably damaging Het
Hectd2 T C 19: 36,589,803 (GRCm39) C643R probably damaging Het
Hgfac T C 5: 35,199,972 (GRCm39) S118P probably damaging Het
Hmcn1 A G 1: 150,480,625 (GRCm39) V4517A probably benign Het
Hnrnpc A T 14: 52,312,610 (GRCm39) L290* probably null Het
Homer3 A G 8: 70,742,063 (GRCm39) E108G probably damaging Het
Hsd17b3 G T 13: 64,219,816 (GRCm39) S141R probably benign Het
Hspa12b C T 2: 130,980,396 (GRCm39) T105I probably damaging Het
Ifi202b T C 1: 173,799,787 (GRCm39) I231M probably damaging Het
Inhba T A 13: 16,192,222 (GRCm39) N114K probably benign Het
Kmt2b C A 7: 30,268,835 (GRCm39) M2631I possibly damaging Het
Loxhd1 C T 18: 77,483,061 (GRCm39) T1214I probably damaging Het
Lrp1 G T 10: 127,382,731 (GRCm39) N3683K probably damaging Het
Lrrc8e A G 8: 4,284,363 (GRCm39) K196R probably benign Het
Lrrn3 A T 12: 41,502,910 (GRCm39) M469K probably benign Het
Mafb T C 2: 160,207,749 (GRCm39) E283G probably damaging Het
Mapt C A 11: 104,189,528 (GRCm39) P182Q probably benign Het
Mmp14 G T 14: 54,675,199 (GRCm39) R277L possibly damaging Het
Mucl2 T A 15: 103,927,711 (GRCm39) N82I probably benign Het
Nsun6 T A 2: 15,001,150 (GRCm39) T469S possibly damaging Het
Or13p4 T C 4: 118,546,839 (GRCm39) D270G possibly damaging Het
Or5p79 G C 7: 108,221,933 (GRCm39) A305P probably damaging Het
Or8k30 A C 2: 86,339,691 (GRCm39) D296A probably damaging Het
Osbpl5 A T 7: 143,248,670 (GRCm39) F631I possibly damaging Het
Otud3 G T 4: 138,629,196 (GRCm39) D190E possibly damaging Het
Pcdhb6 A T 18: 37,468,332 (GRCm39) I418F possibly damaging Het
Per1 G A 11: 68,997,339 (GRCm39) R838H probably damaging Het
Per2 G A 1: 91,362,857 (GRCm39) P395S probably damaging Het
Per3 G A 4: 151,102,515 (GRCm39) Q583* probably null Het
Pkhd1l1 A T 15: 44,414,157 (GRCm39) H2808L possibly damaging Het
Ppfia2 A G 10: 106,763,687 (GRCm39) T1227A probably benign Het
Pramel30 T C 4: 144,059,311 (GRCm39) F341L probably benign Het
Psg17 C T 7: 18,551,019 (GRCm39) D279N probably benign Het
Rnf167 A G 11: 70,541,623 (GRCm39) D235G probably benign Het
Rxfp3 A G 15: 11,036,362 (GRCm39) S337P probably damaging Het
Sall1 T C 8: 89,759,786 (GRCm39) D106G possibly damaging Het
Sema4f A G 6: 82,891,037 (GRCm39) V590A probably benign Het
Setd1b A G 5: 123,295,820 (GRCm39) D1102G unknown Het
Six2 C A 17: 85,995,135 (GRCm39) K82N probably damaging Het
Snx29 T C 16: 11,218,806 (GRCm39) M214T probably benign Het
Son T C 16: 91,455,810 (GRCm39) L1519P probably damaging Het
Speer1h A T 5: 11,647,579 (GRCm39) N106Y probably damaging Het
Spin1 C T 13: 51,303,085 (GRCm39) S226L probably benign Het
Stxbp5l T C 16: 37,143,965 (GRCm39) D131G probably damaging Het
Svep1 T C 4: 58,069,422 (GRCm39) Y2788C probably damaging Het
Tbl3 C A 17: 24,920,950 (GRCm39) probably null Het
Themis A T 10: 28,657,698 (GRCm39) I242L possibly damaging Het
Tmem203 G A 2: 25,145,742 (GRCm39) V21M probably benign Het
Trp53inp1 T C 4: 11,169,750 (GRCm39) C171R probably benign Het
Tsg101 A G 7: 46,563,159 (GRCm39) Y32H probably damaging Het
Tyw1 A G 5: 130,303,547 (GRCm39) D305G probably damaging Het
Vmn1r40 A T 6: 89,692,026 (GRCm39) Y281F probably damaging Het
Vmn2r105 T A 17: 20,447,937 (GRCm39) T296S probably damaging Het
Vmn2r13 T C 5: 109,319,557 (GRCm39) probably null Het
Zfp933 A G 4: 147,910,589 (GRCm39) F336L 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
R2969:Arsj UTSW 3 126,233,021 (GRCm39) missense probably benign 0.01
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
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 PCR Primer
(F):5'- CAACCCAACTGTCTACCTCTGG -3'
(R):5'- AGTGTTCAAAGTACCTGCCAGG -3'

Sequencing Primer
(F):5'- AACTGTCTACCTCTGGACAATG -3'
(R):5'- CTTGAAGTGGTGAGTGGACAGC -3'
Posted On 2019-10-17