Incidental Mutation 'R8743:Arsk'
ID 663377
Institutional Source Beutler Lab
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Name arylsulfatase K
Synonyms 2810429K17Rik, 4833414G15Rik
MMRRC Submission 068588-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8743 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 76208829-76246744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 76214928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 309 (V309F)
Ref Sequence ENSEMBL: ENSMUSP00000113274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120573]
AlphaFold Q9D2L1
Predicted Effect probably damaging
Transcript: ENSMUST00000120573
AA Change: V309F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: V309F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.7%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,276,264 (GRCm39) C468S probably damaging Het
Adamts7 G A 9: 90,077,296 (GRCm39) R1321H probably damaging Het
Adra2c T C 5: 35,437,792 (GRCm39) V188A possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ap1g1 A G 8: 110,564,423 (GRCm39) N323D probably damaging Het
Arhgap15 A T 2: 43,638,876 (GRCm39) probably benign Het
Arhgef33 T C 17: 80,667,882 (GRCm39) probably null Het
Armc1 C T 3: 19,211,700 (GRCm39) C40Y probably benign Het
Atp4b A T 8: 13,443,489 (GRCm39) M63K probably damaging Het
Cacna1s T C 1: 136,033,286 (GRCm39) L1237P probably damaging Het
Ccnt2 A G 1: 127,702,020 (GRCm39) E19G probably damaging Het
Ccr2 A C 9: 123,906,131 (GRCm39) Y137S probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Cfh A T 1: 140,046,323 (GRCm39) probably null Het
Chd5 T A 4: 152,450,862 (GRCm39) V662E probably benign Het
Cnga4 A G 7: 105,057,220 (GRCm39) D544G probably benign Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Coro6 T A 11: 77,357,265 (GRCm39) I158N probably damaging Het
Cpa1 A G 6: 30,642,992 (GRCm39) S307G probably damaging Het
Depdc5 T A 5: 33,081,587 (GRCm39) M583K probably benign Het
Dock2 G T 11: 34,223,252 (GRCm39) S1170* probably null Het
Dusp16 A T 6: 134,694,933 (GRCm39) S633T probably benign Het
Esco1 T C 18: 10,572,123 (GRCm39) E739G probably damaging Het
Fam193a T A 5: 34,577,501 (GRCm39) probably null Het
Fat4 G A 3: 38,942,592 (GRCm39) S495N probably benign Het
Galnt10 A G 11: 57,675,409 (GRCm39) Y556C probably damaging Het
Garin5b T A 7: 4,760,814 (GRCm39) T633S Het
Gc A T 5: 89,591,311 (GRCm39) D142E probably benign Het
Gda A T 19: 21,377,952 (GRCm39) F369Y probably damaging Het
Glce A T 9: 61,968,103 (GRCm39) S349R probably benign Het
Glp2r A G 11: 67,612,901 (GRCm39) L351P probably damaging Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Gxylt2 A T 6: 100,764,284 (GRCm39) Y323F probably benign Het
Hmmr T C 11: 40,598,858 (GRCm39) N589D probably damaging Het
Hsd17b3 A C 13: 64,210,712 (GRCm39) D214E probably benign Het
Kat6a A G 8: 23,429,022 (GRCm39) D1459G possibly damaging Het
Lad1 G A 1: 135,758,933 (GRCm39) R465H probably benign Het
Lcmt1 T A 7: 122,999,691 (GRCm39) D46E probably damaging Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Mylk G T 16: 34,741,427 (GRCm39) R796L probably benign Het
Nat8l T A 5: 34,154,510 (GRCm39) L108Q probably damaging Het
Nlrp5 T C 7: 23,118,172 (GRCm39) V632A probably benign Het
Nr3c2 A G 8: 77,636,387 (GRCm39) E496G probably damaging Het
Nucb2 A G 7: 116,128,065 (GRCm39) D258G probably damaging Het
Or8b12 G T 9: 37,658,174 (GRCm39) C248F probably benign Het
Or8b56 A T 9: 38,738,995 (GRCm39) I3F probably benign Het
Papln A G 12: 83,829,764 (GRCm39) K962E probably damaging Het
Pcdha8 T A 18: 37,127,372 (GRCm39) M618K probably benign Het
Pclo A G 5: 14,764,580 (GRCm39) D1066G Het
Phip A T 9: 82,809,140 (GRCm39) M446K probably benign Het
Pkn3 A G 2: 29,973,318 (GRCm39) K380R probably benign Het
Potefam1 T C 2: 111,000,017 (GRCm39) T198A unknown Het
Ppa1 C A 10: 61,496,758 (GRCm39) A82E possibly damaging Het
Prune2 A C 19: 17,096,920 (GRCm39) D808A probably benign Het
Psme4 T G 11: 30,828,467 (GRCm39) L1829R probably damaging Het
Rtp4 A C 16: 23,431,866 (GRCm39) K133Q possibly damaging Het
Scaf11 C T 15: 96,313,669 (GRCm39) A1371T probably benign Het
Serpinb9g A T 13: 33,678,931 (GRCm39) H267L probably benign Het
Slc47a2 T G 11: 61,233,588 (GRCm39) D6A probably benign Het
Slco1a4 A T 6: 141,765,255 (GRCm39) V329D possibly damaging Het
Smg6 T C 11: 74,820,859 (GRCm39) S377P probably benign Het
Spata31g1 A G 4: 42,971,030 (GRCm39) H121R probably benign Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Taar2 A T 10: 23,817,369 (GRCm39) Y303F probably damaging Het
Tgm6 A G 2: 129,985,418 (GRCm39) D407G probably damaging Het
Twf2 A G 9: 106,090,010 (GRCm39) E153G possibly damaging Het
Upb1 A G 10: 75,275,710 (GRCm39) Y365C probably damaging Het
Vmn2r4 A T 3: 64,317,247 (GRCm39) S164T possibly damaging Het
Wtip C T 7: 33,824,979 (GRCm39) G202R possibly damaging Het
Zfhx4 G A 3: 5,309,084 (GRCm39) C770Y probably 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
R6552:Arsk UTSW 13 76,220,315 (GRCm39) missense probably damaging 0.99
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
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'- GCAGGAGGATTCTGAATACTTTG -3'
(R):5'- AGCATGTGCAAACTGTAGGC -3'

Sequencing Primer
(F):5'- CACAGTACTTACCAAGCATAGTAGGG -3'
(R):5'- GCAAACTGTAGGCTTTATTCAGATGG -3'
Posted On 2021-03-08