Incidental Mutation 'R4088:Arsk'
ID 317481
Institutional Source Beutler Lab
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Name arylsulfatase K
Synonyms 2810429K17Rik, 4833414G15Rik
MMRRC Submission 040981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4088 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 76208829-76246744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 76246533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 32 (N32T)
Ref Sequence ENSEMBL: ENSMUSP00000113274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091466] [ENSMUST00000120573] [ENSMUST00000223579] [ENSMUST00000224386]
AlphaFold Q9D2L1
Predicted Effect probably benign
Transcript: ENSMUST00000091466
SMART Domains Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991

DomainStartEndE-ValueType
TPR 6 39 2.92e1 SMART
TPR 40 73 1.1e-1 SMART
TPR 272 305 9.45e0 SMART
TPR 306 339 8.9e-2 SMART
SEL1 420 451 1.45e2 SMART
TPR 420 453 2.55e-2 SMART
SEL1 454 490 1.15e1 SMART
TPR 454 492 2.84e1 SMART
TPR 493 527 1.92e1 SMART
TPR 564 597 7.34e-3 SMART
TPR 598 631 1.81e-2 SMART
TPR 632 665 2.43e1 SMART
low complexity region 728 739 N/A INTRINSIC
SEL1 861 892 3.58e1 SMART
TPR 861 894 2.14e-4 SMART
TPR 980 1013 1.56e1 SMART
Blast:TPR 1051 1084 7e-11 BLAST
Blast:TPR 1088 1121 7e-10 BLAST
TPR 1399 1432 4.31e0 SMART
low complexity region 1438 1450 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120573
AA Change: N32T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: N32T

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 unknown
Transcript: ENSMUST00000223579
AA Change: N32T
Predicted Effect probably benign
Transcript: ENSMUST00000224386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224884
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (55/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik T C 1: 181,055,274 (GRCm39) noncoding transcript Het
Alox12b G T 11: 69,049,211 (GRCm39) V87L probably benign Het
Baz1b T A 5: 135,245,794 (GRCm39) N414K probably damaging Het
Cacna1e A T 1: 154,287,929 (GRCm39) probably null Het
Cdc73 A G 1: 143,484,252 (GRCm39) probably benign Het
Cdhr2 A G 13: 54,865,701 (GRCm39) D233G probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cyp2b9 T C 7: 25,872,881 (GRCm39) L8P probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dnajc6 T A 4: 101,496,593 (GRCm39) V920E probably damaging Het
Eef2kmt A T 16: 5,070,899 (GRCm39) I50N probably damaging Het
Esyt3 T C 9: 99,206,290 (GRCm39) M40V probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gpr26 G T 7: 131,568,805 (GRCm39) C50F probably benign Het
Hmcn1 A G 1: 150,578,967 (GRCm39) I1993T possibly damaging Het
Hsdl2 T A 4: 59,610,636 (GRCm39) L211Q unknown Het
Khdrbs2 A G 1: 32,372,605 (GRCm39) E93G probably damaging Het
Kif13b T C 14: 65,004,904 (GRCm39) probably null Het
Kif15 T A 9: 122,815,254 (GRCm39) L423I probably benign Het
Kmt2c A G 5: 25,492,711 (GRCm39) V834A probably benign Het
Lama3 T A 18: 12,637,365 (GRCm39) Y28* probably null Het
Map4k2 A T 19: 6,403,186 (GRCm39) H763L probably damaging Het
Mrtfb T C 16: 13,202,064 (GRCm39) F120S probably damaging Het
Ndufs3 C T 2: 90,728,689 (GRCm39) probably benign Het
Nfasc A T 1: 132,523,329 (GRCm39) V887E probably damaging Het
Npsr1 G A 9: 24,225,065 (GRCm39) E358K possibly damaging Het
Nrcam T C 12: 44,618,985 (GRCm39) L828P possibly damaging Het
Oprm1 T C 10: 6,780,234 (GRCm39) Y299H probably damaging Het
Or1j15 T A 2: 36,459,030 (GRCm39) L140H probably damaging Het
Osbpl8 T C 10: 111,125,651 (GRCm39) V777A possibly damaging Het
Pcnt T C 10: 76,263,848 (GRCm39) E372G probably damaging Het
Plekhh2 T C 17: 84,925,427 (GRCm39) V1408A probably benign Het
Sbk2 T C 7: 4,960,627 (GRCm39) Y181C probably damaging Het
Sf1 G A 19: 6,418,470 (GRCm39) probably null Het
Slc26a9 A G 1: 131,695,587 (GRCm39) E765G possibly damaging Het
Stab2 A G 10: 86,758,049 (GRCm39) L1073P probably damaging Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taar3 A G 10: 23,825,757 (GRCm39) D101G possibly damaging Het
Thsd4 T C 9: 59,904,505 (GRCm39) R204G probably benign Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Ttn G A 2: 76,748,114 (GRCm39) Q4312* probably null Het
Ubtfl1 T C 9: 18,321,264 (GRCm39) V264A probably damaging Het
Vmn1r58 C A 7: 5,413,654 (GRCm39) W192L probably damaging Het
Washc5 C A 15: 59,211,711 (GRCm39) C969F probably damaging Het
Zdhhc14 A G 17: 5,777,131 (GRCm39) K296R probably benign Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Zfp9 G T 6: 118,441,730 (GRCm39) P311T 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
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
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'- GTTCAAGGAGCAAAGCCCAG -3'
(R):5'- AAACTTCTAGTCTTGTCCCTAGAG -3'

Sequencing Primer
(F):5'- CCAGGAGTTAGAGACTGGCTTC -3'
(R):5'- AGTCTTGTCCCTAGAGTCCGG -3'
Posted On 2015-05-15