Incidental Mutation 'R6726:Arsk'
ID 529878
Institutional Source Beutler Lab
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Name arylsulfatase K
Synonyms 2810429K17Rik, 4833414G15Rik
MMRRC Submission 044844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6726 (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 C at 76222907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 230 (Y230C)
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: Y230C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: Y230C

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 100% (41/41)
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
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Arfgef2 T A 2: 166,735,540 (GRCm39) probably null Het
Atf7ip G A 6: 136,559,389 (GRCm39) V737M probably damaging Het
Atp6v1e1 A T 6: 120,781,011 (GRCm39) probably null Het
Bbs9 T C 9: 22,557,260 (GRCm39) V3A probably benign Het
Brap T C 5: 121,813,365 (GRCm39) S243P probably damaging Het
Camkmt T A 17: 85,702,037 (GRCm39) I167N probably damaging Het
Ckap2l C A 2: 129,111,114 (GRCm39) E694D probably damaging Het
Crmp1 G A 5: 37,441,408 (GRCm39) V497I probably benign Het
Dbx2 A G 15: 95,522,741 (GRCm39) V322A possibly damaging Het
Dll1 C A 17: 15,590,513 (GRCm39) C401F probably damaging Het
Dock10 T C 1: 80,490,147 (GRCm39) T1991A probably damaging Het
Dock3 C T 9: 107,036,651 (GRCm39) W42* probably null Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Hdac1-ps A G 17: 78,800,287 (GRCm39) E426G probably damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Irs2 T C 8: 11,054,961 (GRCm39) N1157S possibly damaging Het
Kndc1 T C 7: 139,502,667 (GRCm39) probably null Het
Map3k19 T C 1: 127,748,185 (GRCm39) N1241S probably benign Het
Or9g4b T C 2: 85,615,906 (GRCm39) F17S possibly damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pcdh17 T A 14: 84,683,657 (GRCm39) D41E probably damaging Het
Plg T G 17: 12,597,595 (GRCm39) L14R probably damaging Het
Prkab1 A G 5: 116,158,092 (GRCm39) V168A probably benign Het
Prr35 G C 17: 26,166,689 (GRCm39) P283A probably benign Het
Ptdss1 C T 13: 67,101,595 (GRCm39) R95* probably null Het
Rab3gap2 T G 1: 184,980,062 (GRCm39) S327A probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Homo
Sdr42e2 T C 7: 120,425,332 (GRCm39) S308P probably damaging Het
Senp8 C A 9: 59,644,473 (GRCm39) V228L probably benign Het
Serpina10 A T 12: 103,594,628 (GRCm39) I197K probably benign Het
Serpinb6d A G 13: 33,854,718 (GRCm39) N231S probably benign Het
Sez6l2 T C 7: 126,567,177 (GRCm39) V869A probably damaging Het
Sgo2b T A 8: 64,380,769 (GRCm39) K688* probably null Het
Sh3kbp1 A T X: 158,624,176 (GRCm39) E39D probably benign Homo
Ufsp2 T C 8: 46,438,504 (GRCm39) M194T probably benign Het
Ush2a T C 1: 188,485,881 (GRCm39) I2997T possibly damaging Het
Vmn2r107 G A 17: 20,595,637 (GRCm39) G730D probably damaging Het
Wdr72 T C 9: 74,059,822 (GRCm39) Y411H possibly damaging Het
Xirp2 T C 2: 67,343,212 (GRCm39) S1818P 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
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
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'- TGCACCTCTATATAGTTAGCAAGC -3'
(R):5'- TCTTGCTCCGACAAGAAGGC -3'

Sequencing Primer
(F):5'- CCCTTGAACAAATTGGCTT -3'
(R):5'- GGCAGACCCATAATTAATCTTATCC -3'
Posted On 2018-08-01