Incidental Mutation 'R8503:Arsk'
ID 655429
Institutional Source Beutler Lab
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Name arylsulfatase K
Synonyms 2810429K17Rik, 4833414G15Rik
MMRRC Submission 067943-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8503 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 76208829-76246744 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 76239830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 124 (Y124*)
Ref Sequence ENSEMBL: ENSMUSP00000113274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120573] [ENSMUST00000223579]
AlphaFold Q9D2L1
Predicted Effect probably null
Transcript: ENSMUST00000120573
AA Change: Y124*
SMART Domains Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: Y124*

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (50/52)
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
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Atm A G 9: 53,399,352 (GRCm39) Y1550H probably damaging Het
Atp10b A G 11: 43,113,066 (GRCm39) T871A possibly damaging Het
Birc6 T A 17: 74,999,239 (GRCm39) Y4656N probably damaging Het
Bpifa3 C A 2: 153,972,550 (GRCm39) A32D probably damaging Het
Casp12 T C 9: 5,346,739 (GRCm39) probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cntnap2 A G 6: 45,968,975 (GRCm39) E239G probably damaging Het
Cped1 C T 6: 22,145,564 (GRCm39) L641F probably benign Het
Cr2 G A 1: 194,845,850 (GRCm39) P35L probably benign Het
Cyp4f15 T A 17: 32,914,338 (GRCm39) C211S probably damaging Het
Defa29 T A 8: 21,815,903 (GRCm39) probably benign Het
Eif2b5 T C 16: 20,317,730 (GRCm39) S23P probably benign Het
Fam151a T C 4: 106,603,377 (GRCm39) F313L possibly damaging Het
Fggy T A 4: 95,790,295 (GRCm39) probably benign Het
Gldc C T 19: 30,077,254 (GRCm39) V973I probably benign Het
Glipr1l2 A C 10: 111,943,075 (GRCm39) E310A probably benign Het
Gpr85 G A 6: 13,836,829 (GRCm39) T25I probably benign Het
Grin2a T A 16: 9,481,413 (GRCm39) I463F probably damaging Het
Hoxd10 T C 2: 74,522,724 (GRCm39) L134P probably benign Het
Kif3b T G 2: 153,162,824 (GRCm39) probably null Het
Klra17 T C 6: 129,845,777 (GRCm39) I146V probably benign Het
Lhpp A G 7: 132,307,406 (GRCm39) T268A probably benign Het
Mab21l1 G T 3: 55,690,604 (GRCm39) E64* probably null Het
Nipal3 C T 4: 135,206,892 (GRCm39) A101T probably damaging Het
Nlgn1 A T 3: 26,187,522 (GRCm39) I121N probably damaging Het
Nuggc G A 14: 65,878,797 (GRCm39) probably null Het
Obscn T C 11: 58,891,443 (GRCm39) M7030V unknown Het
Or10g1b A G 14: 52,627,354 (GRCm39) I292T probably damaging Het
Or12e1 T A 2: 87,022,653 (GRCm39) Y207* probably null Het
Or6c211 T C 10: 129,505,512 (GRCm39) N292S probably damaging Het
Otogl A G 10: 107,727,987 (GRCm39) C245R probably damaging Het
Papolg C T 11: 23,820,292 (GRCm39) V433I probably benign Het
Pcdh12 A G 18: 38,415,574 (GRCm39) V517A possibly damaging Het
Pds5b A G 5: 150,639,972 (GRCm39) E29G possibly damaging Het
Phlpp1 T C 1: 106,320,019 (GRCm39) I1338T probably benign Het
Pom121 T A 5: 135,410,398 (GRCm39) S920C unknown Het
Prdm16 A G 4: 154,426,009 (GRCm39) V592A probably benign Het
R3hdm2 T A 10: 127,328,481 (GRCm39) N734K possibly damaging Het
Rpa2 G C 4: 132,501,180 (GRCm39) V126L probably benign Het
Sash1 A T 10: 8,656,277 (GRCm39) probably benign Het
Shmt2 C T 10: 127,354,789 (GRCm39) V299I probably benign Het
Sp3 T A 2: 72,768,645 (GRCm39) Q706L probably benign Het
Sycp2l A C 13: 41,306,952 (GRCm39) D125A Het
Tmem169 A G 1: 72,340,166 (GRCm39) T199A probably damaging Het
Tnip1 A G 11: 54,827,291 (GRCm39) M157T probably benign Het
Tsbp1 T C 17: 34,667,100 (GRCm39) probably benign Het
Tubb3 A G 8: 124,147,768 (GRCm39) S234G probably damaging Het
Ubtd2 A G 11: 32,449,267 (GRCm39) K38R possibly damaging Het
Unc13a A C 8: 72,098,405 (GRCm39) F1127V possibly damaging Het
Wdpcp G A 11: 21,671,205 (GRCm39) W482* probably null 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
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
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'- GCCAGGCTGCTAAAATCCAG -3'
(R):5'- GGCATTTCATATTCCAGACCACAG -3'

Sequencing Primer
(F):5'- GGCTGCTAAAATCCAGTAACTATAC -3'
(R):5'- GCCAGCCATGCTCTCAAG -3'
Posted On 2020-10-20