Incidental Mutation 'IGL03038:Arsk'
ID408809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Namearylsulfatase K
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03038
Quality Score
Status
Chromosome13
Chromosomal Location76060422-76098660 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 76065513 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120573]
Predicted Effect probably benign
Transcript: ENSMUST00000120573
SMART Domains Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Sulfatase 35 371 6e-49 PFAM
low complexity region 381 392 N/A INTRINSIC
low complexity region 537 555 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225642
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 ARSK, 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,428,456 Y111H probably damaging Het
Arhgef6 C T X: 57,245,606 V262I probably benign Het
Ces1b T C 8: 93,067,052 E303G probably benign Het
Chst9 T C 18: 15,495,303 Q55R probably benign Het
Cntnap3 A T 13: 64,741,025 D1153E possibly damaging Het
D130043K22Rik A G 13: 24,879,619 E681G probably damaging Het
Fhad1 T C 4: 142,002,494 E66G probably benign Het
Flii T C 11: 60,724,832 T69A probably benign Het
Foxl1 A C 8: 121,128,419 E153A probably damaging Het
Gstm3 T C 3: 107,966,169 D162G possibly damaging Het
Gtpbp3 G A 8: 71,489,303 V96I possibly damaging Het
Insig2 G A 1: 121,319,674 T56I probably damaging Het
Kif13a A G 13: 46,772,838 L264P probably damaging Het
Lama3 T G 18: 12,419,250 C420G probably damaging Het
Lrp2 C T 2: 69,475,464 G2918S probably damaging Het
Lrrc8b T C 5: 105,481,492 L568P probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Malrd1 G A 2: 16,127,967 D1900N unknown Het
Mastl C A 2: 23,140,615 probably benign Het
Med24 T G 11: 98,716,184 T276P possibly damaging Het
Naip1 A C 13: 100,437,333 Y239* probably null Het
Nhsl2 A G X: 102,078,885 K765E probably damaging Het
Npy A G 6: 49,823,608 N4S probably benign Het
Nsun2 A G 13: 69,619,584 D188G probably damaging Het
Olfr794 A G 10: 129,570,921 T89A probably benign Het
Pde1a C A 2: 79,887,946 probably benign Het
Pik3cb G A 9: 99,065,597 A509V probably damaging Het
Pou2f2 C T 7: 25,097,152 S315N probably damaging Het
Prdm2 A C 4: 143,134,001 S906R probably damaging Het
Prkaca C A 8: 83,994,951 Q300K probably benign Het
Prox2 T C 12: 85,095,264 D55G possibly damaging Het
Ryr3 T A 2: 112,668,120 T3612S possibly damaging Het
S1pr1 T A 3: 115,712,694 I84L possibly damaging Het
Slc47a1 C T 11: 61,353,092 V384M probably benign Het
Slc6a20b T C 9: 123,597,329 N497S possibly damaging Het
Spen C A 4: 141,538,239 R3L unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Ttll6 T C 11: 96,151,960 F444S probably damaging Het
Vwce T A 19: 10,646,671 Y309N possibly damaging Het
Vwf T C 6: 125,604,157 L586P possibly damaging Het
Wdr35 T C 12: 8,974,185 probably benign Het
Other mutations in Arsk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Arsk APN 13 76098368 splice site probably null
IGL02537:Arsk APN 13 76074906 nonsense probably null
IGL02691:Arsk APN 13 76074950 missense probably damaging 0.98
PIT4480001:Arsk UTSW 13 76062365 missense probably damaging 1.00
R0277:Arsk UTSW 13 76074932 missense probably benign 0.01
R0900:Arsk UTSW 13 76098457 unclassified probably benign
R1441:Arsk UTSW 13 76074964 missense probably benign 0.01
R1748:Arsk UTSW 13 76062410 missense probably benign 0.15
R1923:Arsk UTSW 13 76066866 splice site probably benign
R2131:Arsk UTSW 13 76091812 nonsense probably null
R3723:Arsk UTSW 13 76066653 missense probably damaging 0.98
R4088:Arsk UTSW 13 76098414 missense probably benign
R4851:Arsk UTSW 13 76065279 critical splice donor site probably null
R5406:Arsk UTSW 13 76093947 missense probably benign
R5629:Arsk UTSW 13 76093908 missense probably damaging 1.00
R5869:Arsk UTSW 13 76091784 missense probably benign 0.29
R6217:Arsk UTSW 13 76091816 missense unknown
R6552:Arsk UTSW 13 76072196 missense probably damaging 0.99
R6560:Arsk UTSW 13 76074986 missense probably benign 0.33
R6726:Arsk UTSW 13 76074788 missense probably damaging 1.00
R7421:Arsk UTSW 13 76062515 missense possibly damaging 0.81
R8178:Arsk UTSW 13 76091742 missense probably damaging 1.00
R8274:Arsk UTSW 13 76072184 missense probably damaging 1.00
X0050:Arsk UTSW 13 76065280 missense probably null 0.78
X0066:Arsk UTSW 13 76062456 missense probably benign 0.02
Posted On2016-08-02