Incidental Mutation 'R5629:Arsk'
ID 442011
Institutional Source Beutler Lab
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Name arylsulfatase K
Synonyms 2810429K17Rik, 4833414G15Rik
MMRRC Submission 043280-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5629 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 76208829-76246744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76242027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 82 (I82N)
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 damaging
Transcript: ENSMUST00000120573
AA Change: I82N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: I82N

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 36,014,507 (GRCm39) D189N probably benign Het
Adamts9 A T 6: 92,775,114 (GRCm39) V1052D probably damaging Het
Apob T C 12: 8,057,847 (GRCm39) Y2077H probably damaging Het
Apol7e A T 15: 77,602,276 (GRCm39) K291N probably benign Het
Art1 A G 7: 101,756,286 (GRCm39) Q159R probably benign Het
Atp2a2 A G 5: 122,598,159 (GRCm39) V733A probably damaging Het
Btn2a2 A T 13: 23,666,130 (GRCm39) probably null Het
Catsper1 C T 19: 5,386,165 (GRCm39) P133S probably benign Het
Celsr3 A G 9: 108,726,266 (GRCm39) D3165G probably benign Het
Cldn19 T A 4: 119,114,116 (GRCm39) V86E probably damaging Het
Ctnna1 T A 18: 35,382,802 (GRCm39) D649E probably benign Het
Cttnbp2 A G 6: 18,405,217 (GRCm39) I1094T probably damaging Het
Ddx24 T C 12: 103,391,806 (GRCm39) probably benign Het
Ern2 T A 7: 121,769,389 (GRCm39) H879L probably damaging Het
Etv4 T A 11: 101,662,751 (GRCm39) H277L probably damaging Het
Faap100 G T 11: 120,267,837 (GRCm39) A312D probably damaging Het
Glipr1l1 G A 10: 111,914,308 (GRCm39) C223Y possibly damaging Het
Gna14 T C 19: 16,414,097 (GRCm39) S14P possibly damaging Het
Hapln1 A G 13: 89,749,634 (GRCm39) T60A probably damaging Het
Hars2 T A 18: 36,921,719 (GRCm39) Y273* probably null Het
Ighv5-6 A T 12: 113,589,242 (GRCm39) Y79* probably null Het
Iqgap2 T A 13: 95,768,682 (GRCm39) N1406I probably damaging Het
Kalrn T C 16: 33,860,304 (GRCm39) T215A possibly damaging Het
Krtap13-1 T A 16: 88,526,047 (GRCm39) S90R probably benign Het
Mettl8 T C 2: 70,795,913 (GRCm39) I372V probably benign Het
Mfn1 A T 3: 32,615,659 (GRCm39) T341S possibly damaging Het
Mocos T A 18: 24,797,142 (GRCm39) probably null Het
Muc5b T C 7: 141,415,036 (GRCm39) S2661P possibly damaging Het
Myo15a C T 11: 60,370,578 (GRCm39) P1113S probably benign Het
Myo5a A T 9: 75,111,127 (GRCm39) I1540F possibly damaging Het
Myoc T C 1: 162,476,156 (GRCm39) Y287H probably damaging Het
Napepld A G 5: 21,880,901 (GRCm39) F165L probably benign Het
Ndufb10 T C 17: 24,941,656 (GRCm39) E102G probably damaging Het
Nrros T A 16: 31,963,223 (GRCm39) I265F probably damaging Het
Nrxn1 A T 17: 90,897,460 (GRCm39) F891I possibly damaging Het
Nsfl1c T C 2: 151,346,085 (GRCm39) Y169H probably damaging Het
Oas2 G A 5: 120,876,516 (GRCm39) Q476* probably null Het
Or51f5 A T 7: 102,423,847 (GRCm39) I39F possibly damaging Het
Pcnx2 C A 8: 126,624,780 (GRCm39) W14L probably damaging Het
Pip4p1 T C 14: 51,165,373 (GRCm39) H278R probably benign Het
Piwil2 C T 14: 70,660,416 (GRCm39) V70M probably damaging Het
Prss23 A C 7: 89,159,400 (GRCm39) V223G probably damaging Het
Rarres2 A T 6: 48,547,194 (GRCm39) L122Q probably benign Het
Robo1 T C 16: 72,780,598 (GRCm39) V776A probably benign Het
Robo3 G A 9: 37,330,507 (GRCm39) Q1008* probably null Het
Robo4 G A 9: 37,319,658 (GRCm39) C636Y probably damaging Het
Sacm1l A G 9: 123,395,464 (GRCm39) M196V probably benign Het
Septin7 T A 9: 25,199,589 (GRCm39) Y163N probably damaging Het
Skint6 G A 4: 112,870,176 (GRCm39) T594I possibly damaging Het
Slc23a1 T C 18: 35,759,545 (GRCm39) H13R probably benign Het
Slc25a39 A C 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc8a3 G A 12: 81,246,405 (GRCm39) R883C probably damaging Het
Spag17 A T 3: 99,987,435 (GRCm39) Y1575F probably benign Het
Spdye4c T A 2: 128,438,705 (GRCm39) I321N probably damaging Het
Stk32b G A 5: 37,614,576 (GRCm39) P311S probably damaging Het
Svs3a T A 2: 164,132,040 (GRCm39) S203T probably benign Het
Taf3 A T 2: 9,922,989 (GRCm39) I45N probably damaging Het
Taf7 T C 18: 37,776,555 (GRCm39) N4S probably benign Het
Tial1 T A 7: 128,046,421 (GRCm39) D87V probably damaging Het
Tmem120a T A 5: 135,770,904 (GRCm39) E78V probably benign Het
Tmem19 A G 10: 115,183,165 (GRCm39) F137L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trim30d T C 7: 104,137,136 (GRCm39) K23E possibly damaging Het
Ubxn7 C A 16: 32,151,117 (GRCm39) H4Q unknown Het
Usp40 C T 1: 87,908,731 (GRCm39) R590H probably benign Het
Vmn1r90 A G 7: 14,296,011 (GRCm39) M22T possibly damaging Het
Vmn2r1 G A 3: 64,012,538 (GRCm39) V800M possibly damaging Het
Vps11 A T 9: 44,267,673 (GRCm39) I313N probably damaging Het
Zhx1 A G 15: 57,918,207 (GRCm39) V13A probably damaging Het
Zic4 G A 9: 91,260,805 (GRCm39) R20H probably benign Het
Zp3r C T 1: 130,510,616 (GRCm39) V369M 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
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'- GAGCCCAACATTCAACCTATCTTAG -3'
(R):5'- GAACAAACATCCTGAAGTCTTTTGGG -3'

Sequencing Primer
(F):5'- TTCAACCTATCTTAGAACACACCAG -3'
(R):5'- TGAAGTCTTTTGGGTTGTAAATTTTG -3'
Posted On 2016-11-08