Incidental Mutation 'R6552:Arsk'
ID 521732
Institutional Source Beutler Lab
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Name arylsulfatase K
Synonyms 2810429K17Rik, 4833414G15Rik
MMRRC Submission 044677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6552 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 76208829-76246744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76220315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 260 (Y260H)
Ref Sequence ENSEMBL: ENSMUSP00000113274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120573] [ENSMUST00000223579]
AlphaFold Q9D2L1
Predicted Effect probably damaging
Transcript: ENSMUST00000120573
AA Change: Y260H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: Y260H

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 probably benign
Transcript: ENSMUST00000223579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225642
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang5 A T 14: 44,200,254 (GRCm39) H106L probably benign Het
Atxn2l C T 7: 126,092,993 (GRCm39) V833M possibly damaging Het
Bpifa6 G A 2: 153,829,078 (GRCm39) D202N probably damaging Het
Ccdc103 A G 11: 102,774,970 (GRCm39) S190G probably benign Het
Col6a6 C T 9: 105,576,112 (GRCm39) V2083I probably damaging Het
Creb5 A G 6: 53,662,369 (GRCm39) D222G probably damaging Het
Cyp7a1 C T 4: 6,272,361 (GRCm39) W284* probably null Het
Dnmt3a T C 12: 3,957,623 (GRCm39) V868A probably damaging Het
Efr3a A G 15: 65,729,339 (GRCm39) D680G possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l4a A G 18: 34,012,032 (GRCm39) Y163H probably damaging Het
Gabra1 A T 11: 42,037,926 (GRCm39) S231T probably damaging Het
Golga4 T A 9: 118,343,299 (GRCm39) F42I probably damaging Het
Greb1l G A 18: 10,541,814 (GRCm39) S1187N probably benign Het
Haspin A G 11: 73,028,390 (GRCm39) V233A probably benign Het
Il34 T A 8: 111,469,059 (GRCm39) K187I probably benign Het
Kcnn2 A G 18: 45,693,165 (GRCm39) H247R probably benign Het
Klf5 T C 14: 99,539,078 (GRCm39) S84P probably benign Het
Lama5 G T 2: 179,822,947 (GRCm39) P2773Q probably damaging Het
Lcat T C 8: 106,666,311 (GRCm39) M404V possibly damaging Het
Lrp6 A T 6: 134,431,692 (GRCm39) S1473T probably benign Het
Lsm3 GATATATA GATATATATA 6: 91,496,617 (GRCm39) probably null Het
Mn1 T C 5: 111,568,753 (GRCm39) S908P possibly damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2ag13 TGAAGCC T 7: 106,313,850 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,429,046 (GRCm39) M340L probably benign Het
Pex1 G A 5: 3,673,953 (GRCm39) E748K probably damaging Het
Qrich1 T C 9: 108,411,504 (GRCm39) V343A possibly damaging Het
Rho A G 6: 115,908,709 (GRCm39) probably null Het
Sdhaf4 C A 1: 24,044,687 (GRCm39) probably benign Het
Sec24d A G 3: 123,084,201 (GRCm39) I127V probably benign Het
Siae T C 9: 37,557,696 (GRCm39) V501A possibly damaging Het
Skint3 T C 4: 112,147,482 (GRCm39) Y402H possibly damaging Het
Skint6 A C 4: 112,924,687 (GRCm39) V515G possibly damaging Het
Slc23a1 C A 18: 35,755,391 (GRCm39) G475C probably damaging Het
Smad9 A G 3: 54,690,167 (GRCm39) Y129C probably damaging Het
Snw1 A G 12: 87,506,189 (GRCm39) probably null Het
Spice1 A G 16: 44,199,396 (GRCm39) D616G possibly damaging Het
Stam2 T C 2: 52,598,239 (GRCm39) probably null Het
Sumo3 G T 10: 77,442,091 (GRCm39) probably benign Het
Syne2 T G 12: 75,937,015 (GRCm39) N204K possibly damaging Het
Tmem200a T C 10: 25,869,381 (GRCm39) N296S probably damaging Het
Ttbk1 G T 17: 46,789,888 (GRCm39) T125N probably benign Het
Ubr2 G T 17: 47,277,194 (GRCm39) probably null Het
Vmn1r80 C T 7: 11,927,684 (GRCm39) L265F probably damaging Het
Vwa8 A T 14: 79,435,662 (GRCm39) T1791S possibly damaging Het
Other mutations in Arsk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Arsk APN 13 76,246,487 (GRCm39) splice site probably null
IGL02537:Arsk APN 13 76,223,025 (GRCm39) nonsense probably null
IGL02691:Arsk APN 13 76,223,069 (GRCm39) missense probably damaging 0.98
IGL03038:Arsk APN 13 76,213,632 (GRCm39) splice site probably benign
PIT4480001:Arsk UTSW 13 76,210,484 (GRCm39) missense probably damaging 1.00
R0277:Arsk UTSW 13 76,223,051 (GRCm39) missense probably benign 0.01
R0900:Arsk UTSW 13 76,246,576 (GRCm39) unclassified probably benign
R1441:Arsk UTSW 13 76,223,083 (GRCm39) missense probably benign 0.01
R1748:Arsk UTSW 13 76,210,529 (GRCm39) missense probably benign 0.15
R1923:Arsk UTSW 13 76,214,985 (GRCm39) splice site probably benign
R2131:Arsk UTSW 13 76,239,931 (GRCm39) nonsense probably null
R3723:Arsk UTSW 13 76,214,772 (GRCm39) missense probably damaging 0.98
R4088:Arsk UTSW 13 76,246,533 (GRCm39) missense probably benign
R4851:Arsk UTSW 13 76,213,398 (GRCm39) critical splice donor site probably null
R5406:Arsk UTSW 13 76,242,066 (GRCm39) missense probably benign
R5629:Arsk UTSW 13 76,242,027 (GRCm39) missense probably damaging 1.00
R5869:Arsk UTSW 13 76,239,903 (GRCm39) missense probably benign 0.29
R6217:Arsk UTSW 13 76,239,935 (GRCm39) missense unknown
R6560:Arsk UTSW 13 76,223,105 (GRCm39) missense probably benign 0.33
R6726:Arsk UTSW 13 76,222,907 (GRCm39) missense probably damaging 1.00
R7421:Arsk UTSW 13 76,210,634 (GRCm39) missense possibly damaging 0.81
R8178:Arsk UTSW 13 76,239,861 (GRCm39) missense probably damaging 1.00
R8274:Arsk UTSW 13 76,220,303 (GRCm39) missense probably damaging 1.00
R8503:Arsk UTSW 13 76,239,830 (GRCm39) nonsense probably null
R8743:Arsk UTSW 13 76,214,928 (GRCm39) missense probably damaging 0.99
R9517:Arsk UTSW 13 76,210,638 (GRCm39) missense probably damaging 1.00
R9619:Arsk UTSW 13 76,223,151 (GRCm39) missense probably damaging 1.00
R9644:Arsk UTSW 13 76,220,227 (GRCm39) missense probably damaging 0.97
X0050:Arsk UTSW 13 76,213,399 (GRCm39) missense probably null 0.78
X0066:Arsk UTSW 13 76,210,575 (GRCm39) missense probably benign 0.02
Z1192:Arsk UTSW 13 76,246,637 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GCAACTGCTTCGTGAGATATCTG -3'
(R):5'- CCAGAGGCTATTCTTTCCCG -3'

Sequencing Primer
(F):5'- CGTGAGATATCTGAGGATGCTCC -3'
(R):5'- TCCCGTCATTCTATGTAGGAAAC -3'
Posted On 2018-06-06