Incidental Mutation 'R5406:Arsk'
ID 426296
Institutional Source Beutler Lab
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Name arylsulfatase K
Synonyms 2810429K17Rik, 4833414G15Rik
MMRRC Submission 042976-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5406 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 76208829-76246744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76242066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 69 (H69L)
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: H69L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: H69L

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 probably benign
Transcript: ENSMUST00000223579
Predicted Effect probably benign
Transcript: ENSMUST00000224386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224884
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,387 (GRCm39) V17D probably damaging Het
Abcb1a C A 5: 8,752,946 (GRCm39) Q566K probably damaging Het
Adam26a A T 8: 44,022,141 (GRCm39) C450S probably damaging Het
Adar C T 3: 89,643,418 (GRCm39) P433L probably damaging Het
Aldh1a2 G T 9: 71,162,403 (GRCm39) A151S possibly damaging Het
Atf6b T A 17: 34,872,771 (GRCm39) Y600* probably null Het
Blk C A 14: 63,618,180 (GRCm39) G242V probably damaging Het
Bmt2 A T 6: 13,677,831 (GRCm39) M1K probably null Het
Catsperg1 G A 7: 28,884,948 (GRCm39) T891M probably damaging Het
Ccdc32 A C 2: 118,852,560 (GRCm39) S131A possibly damaging Het
Cdh8 A G 8: 99,923,002 (GRCm39) V298A probably damaging Het
Cfap54 T A 10: 92,837,720 (GRCm39) Q1060L probably benign Het
Cfap58 G A 19: 48,017,541 (GRCm39) M800I possibly damaging Het
Cntn5 A T 9: 9,833,465 (GRCm39) V362D probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
G2e3 T C 12: 51,419,449 (GRCm39) S699P probably damaging Het
Gbp4 G T 5: 105,267,387 (GRCm39) Q511K possibly damaging Het
Gdap2 T A 3: 100,098,991 (GRCm39) I361N probably damaging Het
Ino80c T A 18: 24,245,819 (GRCm39) H92L probably benign Het
Lipo4 A G 19: 33,480,618 (GRCm39) V250A probably benign Het
Llgl1 C T 11: 60,604,010 (GRCm39) R1055W probably damaging Het
Lrriq3 T C 3: 154,835,138 (GRCm39) probably null Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Ncstn A G 1: 171,899,731 (GRCm39) V317A probably benign Het
Nfxl1 G A 5: 72,713,541 (GRCm39) T134I possibly damaging Het
Nup155 A T 15: 8,183,122 (GRCm39) probably null Het
Nup214 C A 2: 31,892,619 (GRCm39) P680T probably damaging Het
Or6c212 G A 10: 129,558,799 (GRCm39) L205F probably damaging Het
Or7h8 A G 9: 20,124,454 (GRCm39) K270E probably benign Het
Or8b12 A G 9: 37,657,943 (GRCm39) N171S probably benign Het
Or8b9 G A 9: 37,766,515 (GRCm39) V134I probably benign Het
Pkd2 T C 5: 104,628,198 (GRCm39) F424S probably damaging Het
Plb1 A G 5: 32,499,259 (GRCm39) D1074G probably damaging Het
Ppm1l T C 3: 69,224,927 (GRCm39) S10P possibly damaging Het
Rnf213 A G 11: 119,331,634 (GRCm39) H2281R probably damaging Het
Rpa2 G T 4: 132,503,559 (GRCm39) A3S probably benign Het
Sardh A G 2: 27,101,096 (GRCm39) V698A possibly damaging Het
Saxo2 A T 7: 82,284,586 (GRCm39) C91S probably benign Het
Slc3a2 T C 19: 8,685,406 (GRCm39) D198G probably damaging Het
Spata31d1d T A 13: 59,876,592 (GRCm39) E314D probably benign Het
Sptlc3 T C 2: 139,388,398 (GRCm39) V130A probably benign Het
Stpg3 C A 2: 25,103,580 (GRCm39) E115* probably null Het
Tbcd T A 11: 121,342,927 (GRCm39) D19E probably benign Het
Xrcc3 T C 12: 111,778,545 (GRCm39) D2G 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
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'- TGAGCCCAACATTCAACCTATCTTAG -3'
(R):5'- ACAAACATCCTGAAGTCTTTTGGG -3'

Sequencing Primer
(F):5'- TTCAACCTATCTTAGAACACACCAG -3'
(R):5'- TGAAGTCTTTTGGGTTGTAAATTTTG -3'
Posted On 2016-09-01