Incidental Mutation 'R8178:Arsk'
ID 634508
Institutional Source Beutler Lab
Gene Symbol Arsk
Ensembl Gene ENSMUSG00000021592
Gene Name arylsulfatase K
Synonyms 2810429K17Rik, 4833414G15Rik
MMRRC Submission 067603-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8178 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 76208829-76246744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76239861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 114 (T114K)
Ref Sequence ENSEMBL: ENSMUSP00000113274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120573]
AlphaFold Q9D2L1
Predicted Effect probably damaging
Transcript: ENSMUST00000120573
AA Change: T114K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: T114K

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
Meta Mutation Damage Score 0.9160 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
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
4921513D11Rik A G 17: 79,935,699 (GRCm39) I276V Het
Acsm5 C A 7: 119,141,618 (GRCm39) H538N probably damaging Het
Adamts17 A G 7: 66,499,464 (GRCm39) I4V possibly damaging Het
Adgrg3 T C 8: 95,761,675 (GRCm39) V146A probably damaging Het
Ankrd52 T A 10: 128,225,170 (GRCm39) L877Q probably damaging Het
Aox3 A T 1: 58,189,481 (GRCm39) D394V possibly damaging Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef4 A G 1: 34,761,983 (GRCm39) E413G unknown Het
Arhgef5 T C 6: 43,252,119 (GRCm39) S957P probably benign Het
Bpifb2 T C 2: 153,733,876 (GRCm39) V406A probably damaging Het
Cbr3 C A 16: 93,480,393 (GRCm39) Q61K probably benign Het
Ccdc73 C T 2: 104,821,557 (GRCm39) S502L probably benign Het
Cdhr3 A T 12: 33,098,931 (GRCm39) probably null Het
Cep170b T A 12: 112,705,719 (GRCm39) M1159K possibly damaging Het
Cep295 A T 9: 15,244,836 (GRCm39) S1159T Het
Cit C T 5: 116,107,131 (GRCm39) R1088W probably damaging Het
Col16a1 A T 4: 129,947,270 (GRCm39) H205L unknown Het
Cpt1c T G 7: 44,609,077 (GRCm39) H748P probably damaging Het
Cstdc4 T G 16: 36,006,772 (GRCm39) Y35* probably null Het
Dcaf8 A T 1: 172,013,886 (GRCm39) D359V probably benign Het
Dcstamp A G 15: 39,618,422 (GRCm39) Y277C probably damaging Het
Dnah10 A G 5: 124,832,790 (GRCm39) K898R probably benign Het
Dnah6 T A 6: 73,037,208 (GRCm39) T3345S probably benign Het
Dpp6 A T 5: 27,803,815 (GRCm39) N254Y probably damaging Het
F2 A T 2: 91,460,618 (GRCm39) probably null Het
Fam216b G C 14: 78,322,504 (GRCm39) H67D possibly damaging Het
Fbxl17 A C 17: 63,794,967 (GRCm39) probably null Het
Gas2 T A 7: 51,547,026 (GRCm39) M59K probably damaging Het
Glud1 G A 14: 34,065,664 (GRCm39) G554D probably damaging Het
Gys2 C T 6: 142,402,138 (GRCm39) G234R probably damaging Het
Ifngr1 A G 10: 19,485,241 (GRCm39) I413M probably benign Het
Inpp5a C T 7: 139,118,153 (GRCm39) R236C probably damaging Het
Kcnip3 A G 2: 127,323,934 (GRCm39) S32P probably benign Het
Lingo3 T A 10: 80,670,464 (GRCm39) T489S possibly damaging Het
Lrpprc A G 17: 85,079,575 (GRCm39) L227P probably damaging Het
Morn1 A G 4: 155,213,160 (GRCm39) Q356R probably benign Het
Naxd A C 8: 11,561,987 (GRCm39) K275Q probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nck1 A T 9: 100,379,790 (GRCm39) W154R probably damaging Het
Or10d5 G A 9: 39,861,708 (GRCm39) R120C probably benign Het
Or1ad8 T A 11: 50,898,437 (GRCm39) C213S probably damaging Het
Or5aq6 C T 2: 86,923,220 (GRCm39) V174M possibly damaging Het
Or7e175 T C 9: 20,048,571 (GRCm39) V53A possibly damaging Het
Pdxk C T 10: 78,289,338 (GRCm39) V38M probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pes1 T C 11: 3,927,718 (GRCm39) S482P probably benign Het
Pglyrp1 T A 7: 18,618,657 (GRCm39) F3I unknown Het
Pira13 T C 7: 3,824,260 (GRCm39) K631R unknown Het
Plce1 T A 19: 38,761,423 (GRCm39) F2092I possibly damaging Het
Pms1 A G 1: 53,246,505 (GRCm39) S345P probably benign Het
Pom121l12 C A 11: 14,550,011 (GRCm39) P239H probably damaging Het
Prdm2 A G 4: 142,859,018 (GRCm39) I1424T probably benign Het
Prmt6 A G 3: 110,158,140 (GRCm39) Y50H probably damaging Het
Rbm39 T C 2: 155,996,195 (GRCm39) I397V probably benign Het
Rnf157 A G 11: 116,238,307 (GRCm39) V519A possibly damaging Het
Sec23a T C 12: 59,053,980 (GRCm39) E6G possibly damaging Het
Shank1 T C 7: 43,962,748 (GRCm39) probably null Het
Slfn3 A G 11: 83,105,505 (GRCm39) I378V probably benign Het
Smn1 T A 13: 100,267,303 (GRCm39) probably null Het
Snd1 T C 6: 28,874,975 (GRCm39) F632S possibly damaging Het
Sun5 T C 2: 153,698,131 (GRCm39) probably null Het
Tial1 T C 7: 128,046,614 (GRCm39) R209G probably benign Het
Trhde T C 10: 114,244,598 (GRCm39) I963V possibly damaging Het
Tssc4 G T 7: 142,623,932 (GRCm39) R80L possibly damaging Het
Ttn A T 2: 76,642,852 (GRCm39) N13261K probably damaging Het
Ugdh A T 5: 65,581,005 (GRCm39) probably null Het
Vmn1r218 A T 13: 23,321,472 (GRCm39) E273V probably benign Het
Vmn2r92 T A 17: 18,386,988 (GRCm39) F109Y possibly damaging Het
Zcchc7 A G 4: 44,931,398 (GRCm39) S196G probably benign Het
Zfp788 T A 7: 41,298,335 (GRCm39) C324S probably damaging Het
Zfp976 T C 7: 42,262,959 (GRCm39) T294A probably benign 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
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'- GCCAGGCTGCTAAAATCCAG -3'
(R):5'- GGCATTTCATATTCCAGACCACAG -3'

Sequencing Primer
(F):5'- GGCTGCTAAAATCCAGTAACTATAC -3'
(R):5'- GCCAGCCATGCTCTCAAG -3'
Posted On 2020-07-13