Incidental Mutation 'R6217:Arsk'
ID 526351
Institutional Source Beutler Lab
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Name arylsulfatase K
Synonyms 2810429K17Rik, 4833414G15Rik
MMRRC Submission 044350-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6217 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 76208829-76246744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76239935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 46 (Q46L)
Ref Sequence ENSEMBL: ENSMUSP00000153634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120573] [ENSMUST00000223579]
AlphaFold Q9D2L1
Predicted Effect silent
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 unknown
Transcript: ENSMUST00000223579
AA Change: Q46L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224884
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (59/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
Adamts20 T C 15: 94,236,596 (GRCm39) D808G probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Asnsd1 A G 1: 53,387,187 (GRCm39) F147L probably benign Het
Atp5f1a T A 18: 77,869,056 (GRCm39) S427T probably benign Het
Atp6v1b2 A C 8: 69,562,530 (GRCm39) probably null Het
AU021092 T A 16: 5,030,050 (GRCm39) T322S possibly damaging Het
Bcl7c A T 7: 127,307,698 (GRCm39) M1K probably null Het
Cacna1i T C 15: 80,273,333 (GRCm39) V1673A probably damaging Het
Ccdc146 A T 5: 21,522,900 (GRCm39) probably null Het
Cdc7 A G 5: 107,120,660 (GRCm39) D122G probably damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Chd3 T A 11: 69,236,361 (GRCm39) Q1950L probably damaging Het
Cutc T C 19: 43,748,436 (GRCm39) L111S probably damaging Het
Cyp2j6 A G 4: 96,406,398 (GRCm39) F458L probably damaging Het
Ddhd1 T C 14: 45,856,971 (GRCm39) probably null Het
Dstyk T C 1: 132,387,677 (GRCm39) S804P probably damaging Het
Ech1 A G 7: 28,531,261 (GRCm39) D283G possibly damaging Het
Exosc10 A G 4: 148,666,768 (GRCm39) probably null Het
Fancg A C 4: 43,010,084 (GRCm39) V5G probably benign Het
Fbxo11 A G 17: 88,316,332 (GRCm39) V394A probably benign Het
Fcmr C T 1: 130,806,060 (GRCm39) R339W probably damaging Het
Fhip2b T C 14: 70,829,198 (GRCm39) probably null Het
Fsip2 T A 2: 82,818,762 (GRCm39) L4832M possibly damaging Het
Gab1 A G 8: 81,518,237 (GRCm39) V125A possibly damaging Het
Gabrr1 A T 4: 33,149,026 (GRCm39) probably null Het
Gon4l T C 3: 88,799,968 (GRCm39) V871A possibly damaging Het
Hspg2 A G 4: 137,267,559 (GRCm39) T2056A probably damaging Het
Lrrc3 T A 10: 77,736,843 (GRCm39) T198S probably benign Het
Lsamp A T 16: 41,954,675 (GRCm39) E174V possibly damaging Het
Ltbr C T 6: 125,284,417 (GRCm39) V342M probably damaging Het
Muc16 A T 9: 18,566,742 (GRCm39) S1926T unknown Het
Ntn1 C A 11: 68,104,158 (GRCm39) V497F possibly damaging Het
Or2ag18 A T 7: 106,405,279 (GRCm39) L130Q probably damaging Het
Or5k17 T C 16: 58,746,877 (GRCm39) D19G probably benign Het
Or8g22 A T 9: 38,958,039 (GRCm39) *270R probably null Het
Osmr T C 15: 6,853,047 (GRCm39) Y615C probably damaging Het
Pcdhgb2 T C 18: 37,823,054 (GRCm39) V15A possibly damaging Het
Pkd2l2 A G 18: 34,547,733 (GRCm39) N162S probably benign Het
Ppp1r12a G A 10: 108,076,045 (GRCm39) probably null Het
Prss59 G A 6: 40,903,019 (GRCm39) P118S possibly damaging Het
Prtg C T 9: 72,812,076 (GRCm39) P899S probably damaging Het
Ptprn A T 1: 75,224,810 (GRCm39) S912R probably damaging Het
Rex2 A G 4: 147,141,931 (GRCm39) T140A possibly damaging Het
Ryr2 T G 13: 11,848,964 (GRCm39) D339A probably damaging Het
Sf3b1 C T 1: 55,046,677 (GRCm39) R289H probably damaging Het
Slc17a9 A G 2: 180,379,455 (GRCm39) D309G probably benign Het
Slc4a10 A G 2: 62,134,295 (GRCm39) R1004G probably benign Het
Sprr2f A T 3: 92,273,366 (GRCm39) Q55L unknown Het
Syne1 C T 10: 5,243,761 (GRCm39) G2801D probably benign Het
Tenm3 A T 8: 48,746,700 (GRCm39) V1026D probably damaging Het
Ticam1 A T 17: 56,577,730 (GRCm39) I455N probably damaging Het
Tmem161b A G 13: 84,399,363 (GRCm39) I6M possibly damaging Het
Ubn1 A G 16: 4,895,096 (GRCm39) E714G probably damaging Het
Ush2a T G 1: 188,475,651 (GRCm39) probably null Het
Usp19 G A 9: 108,377,343 (GRCm39) V874M probably damaging Het
Vmn2r106 T C 17: 20,488,501 (GRCm39) T633A probably benign Het
Vmn2r75 A T 7: 85,815,375 (GRCm39) probably benign Het
Zfyve27 T C 19: 42,178,016 (GRCm39) V386A probably damaging Het
Zscan20 A T 4: 128,498,327 (GRCm39) W24R 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
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
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'- AGCCATTGAATGTGCGACAG -3'
(R):5'- TGGTGGCATTTCATATTCCAGACC -3'

Sequencing Primer
(F):5'- CCATTGAATGTGCGACAGAGGAC -3'
(R):5'- GGCATTTCATATTCCAGACCACAGAC -3'
Posted On 2018-06-25