Incidental Mutation 'R4258:Arsi'
ID 321930
Institutional Source Beutler Lab
Gene Symbol Arsi
Ensembl Gene ENSMUSG00000036412
Gene Name arylsulfatase i
Synonyms
MMRRC Submission 041071-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4258 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 61045063-61051633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61050388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 424 (W424R)
Ref Sequence ENSEMBL: ENSMUSP00000043966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040359]
AlphaFold Q32KI9
Predicted Effect probably damaging
Transcript: ENSMUST00000040359
AA Change: W424R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043966
Gene: ENSMUSG00000036412
AA Change: W424R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Sulfatase 47 360 8.2e-73 PFAM
low complexity region 526 537 N/A INTRINSIC
low complexity region 547 556 N/A INTRINSIC
Meta Mutation Damage Score 0.9641 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (60/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik T A 17: 54,031,441 (GRCm39) noncoding transcript Het
Ank3 T C 10: 69,840,592 (GRCm39) I984T probably benign Het
Arnt2 T C 7: 83,960,163 (GRCm39) T204A probably damaging Het
Aspg A T 12: 112,087,687 (GRCm39) N346I probably benign Het
Brdt A G 5: 107,507,775 (GRCm39) S668G probably damaging Het
Ccdc178 C T 18: 22,150,392 (GRCm39) probably null Het
Cfap58 A T 19: 47,937,923 (GRCm39) probably null Het
Chaf1a C A 17: 56,363,474 (GRCm39) H319Q unknown Het
Colec12 T C 18: 9,720,950 (GRCm39) S13P probably damaging Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cyp2c65 A C 19: 39,081,872 (GRCm39) D466A probably benign Het
Cyp3a25 T C 5: 145,928,248 (GRCm39) K266E probably damaging Het
Dennd1b G T 1: 138,990,678 (GRCm39) R214L probably damaging Het
Dock9 T C 14: 121,818,854 (GRCm39) I1533V probably benign Het
Dynlt1a C T 17: 6,361,184 (GRCm39) M102I probably benign Het
Edil3 G T 13: 89,325,272 (GRCm39) L220F probably damaging Het
Eml5 A G 12: 98,831,693 (GRCm39) Y383H probably benign Het
Epc1 T A 18: 6,450,130 (GRCm39) T393S probably benign Het
Fbxo8 A T 8: 57,041,076 (GRCm39) D164V probably benign Het
Gbp4 T A 5: 105,284,841 (GRCm39) N16I probably damaging Het
Gdf6 G A 4: 9,844,877 (GRCm39) V134I probably damaging Het
Gm5475 A G 15: 100,322,117 (GRCm39) probably benign Het
Gm6430 T G 1: 96,952,561 (GRCm39) noncoding transcript Het
Ighv9-4 A T 12: 114,263,765 (GRCm39) V56E probably damaging Het
Il3ra A T 14: 14,347,961 (GRCm38) N36Y probably damaging Het
Kif7 G T 7: 79,360,261 (GRCm39) C325* probably null Het
Lipo2 A T 19: 33,708,328 (GRCm39) F229I possibly damaging Het
Lrba A G 3: 86,352,656 (GRCm39) K1935E probably damaging Het
Mki67 A T 7: 135,297,017 (GRCm39) D2672E possibly damaging Het
Mtf1 A G 4: 124,732,576 (GRCm39) T545A probably benign Het
Mup6 A T 4: 60,004,812 (GRCm39) probably null Het
Myo9b T C 8: 71,808,409 (GRCm39) V1672A probably damaging Het
Nudt16l2 T C 9: 105,020,767 (GRCm39) I165V probably damaging Het
Or10al6 C A 17: 38,082,949 (GRCm39) P135Q probably damaging Het
Or10j5 C T 1: 172,785,205 (GRCm39) T281I possibly damaging Het
Or4k36 A T 2: 111,145,983 (GRCm39) H53L probably benign Het
Or5d37 T A 2: 87,923,362 (GRCm39) N306I probably damaging Het
Pcdhgb2 A T 18: 37,825,102 (GRCm39) I698F probably damaging Het
Pkn3 C T 2: 29,978,572 (GRCm39) H665Y probably damaging Het
Ppil6 T A 10: 41,383,531 (GRCm39) L99* probably null Het
Psg22 T A 7: 18,458,554 (GRCm39) V376E probably damaging Het
Pum1 G A 4: 130,457,591 (GRCm39) R201H probably damaging Het
Rasa2 A T 9: 96,439,433 (GRCm39) probably benign Het
Schip1 T A 3: 68,525,963 (GRCm39) M379K possibly damaging Het
Scn9a A T 2: 66,395,398 (GRCm39) probably benign Het
Sh3tc1 C T 5: 35,864,322 (GRCm39) A622T probably benign Het
Smarcd2 A T 11: 106,156,076 (GRCm39) I292N probably damaging Het
Ssxb17 C T X: 21,041,167 (GRCm39) S45N probably damaging Het
Stab1 G A 14: 30,876,629 (GRCm39) R862C possibly damaging Het
Tdrd5 T A 1: 156,087,312 (GRCm39) H870L probably benign Het
Tnfaip8 A G 18: 50,223,443 (GRCm39) R60G possibly damaging Het
Traf3ip3 C T 1: 192,880,254 (GRCm39) R25Q probably damaging Het
Unc5b T C 10: 60,601,150 (GRCm39) Y892C probably damaging Het
Vmn2r2 T G 3: 64,042,118 (GRCm39) D199A probably damaging Het
Washc2 C A 6: 116,185,202 (GRCm39) P12Q probably damaging Het
Zfp286 T C 11: 62,671,896 (GRCm39) I121V probably benign Het
Zfp606 T A 7: 12,228,267 (GRCm39) probably null Het
Other mutations in Arsi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Arsi APN 18 61,045,502 (GRCm39) missense probably damaging 1.00
IGL02519:Arsi APN 18 61,050,139 (GRCm39) missense probably damaging 1.00
IGL03186:Arsi APN 18 61,050,545 (GRCm39) missense probably damaging 1.00
IGL03134:Arsi UTSW 18 61,050,424 (GRCm39) missense probably damaging 1.00
R0003:Arsi UTSW 18 61,050,058 (GRCm39) missense probably benign 0.29
R0003:Arsi UTSW 18 61,050,058 (GRCm39) missense probably benign 0.29
R0448:Arsi UTSW 18 61,050,374 (GRCm39) missense probably damaging 0.98
R1147:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1147:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1148:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1148:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1190:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1261:Arsi UTSW 18 61,049,743 (GRCm39) missense probably damaging 1.00
R1511:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1538:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1635:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1641:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1759:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1794:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1822:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1824:Arsi UTSW 18 61,045,369 (GRCm39) missense probably damaging 1.00
R1824:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1930:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1932:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R1983:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2035:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2036:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2108:Arsi UTSW 18 61,049,443 (GRCm39) missense possibly damaging 0.75
R2166:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2168:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2261:Arsi UTSW 18 61,049,737 (GRCm39) missense probably damaging 1.00
R2263:Arsi UTSW 18 61,049,737 (GRCm39) missense probably damaging 1.00
R2299:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2300:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2393:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2402:Arsi UTSW 18 61,049,539 (GRCm39) missense possibly damaging 0.88
R2484:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2511:Arsi UTSW 18 61,049,666 (GRCm39) missense probably damaging 1.00
R2994:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2995:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2996:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R2997:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R3625:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R3694:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R3695:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R3883:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R3884:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R3907:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R3932:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R3954:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4212:Arsi UTSW 18 61,049,773 (GRCm39) missense probably damaging 1.00
R4256:Arsi UTSW 18 61,050,388 (GRCm39) missense probably damaging 1.00
R4257:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4459:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4469:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4601:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4603:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4610:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4649:Arsi UTSW 18 61,050,170 (GRCm39) missense probably damaging 1.00
R4649:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4650:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4651:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4652:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4749:Arsi UTSW 18 61,050,533 (GRCm39) missense probably benign 0.23
R4766:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4807:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4808:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4856:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4860:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4860:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R4886:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R5015:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R5121:Arsi UTSW 18 61,050,511 (GRCm39) missense probably damaging 1.00
R5185:Arsi UTSW 18 61,049,984 (GRCm39) missense probably damaging 1.00
R6191:Arsi UTSW 18 61,045,544 (GRCm39) missense probably damaging 1.00
R6197:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R6218:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R6219:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R6220:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R6378:Arsi UTSW 18 61,049,573 (GRCm39) missense probably damaging 1.00
R6612:Arsi UTSW 18 61,045,528 (GRCm39) missense probably benign 0.12
R6871:Arsi UTSW 18 61,049,723 (GRCm39) missense probably benign 0.07
R7813:Arsi UTSW 18 61,049,726 (GRCm39) missense possibly damaging 0.58
R7974:Arsi UTSW 18 61,045,478 (GRCm39) missense probably damaging 1.00
R8035:Arsi UTSW 18 61,049,442 (GRCm39) missense probably damaging 1.00
R9162:Arsi UTSW 18 61,050,569 (GRCm39) missense probably damaging 0.96
R9200:Arsi UTSW 18 61,049,836 (GRCm39) missense possibly damaging 0.87
R9581:Arsi UTSW 18 61,050,160 (GRCm39) missense probably damaging 1.00
Z1176:Arsi UTSW 18 61,049,852 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCGGTACTACATCAGCAG -3'
(R):5'- GTTATAATCAGCCAGGCGAGCC -3'

Sequencing Primer
(F):5'- AGCTGATGGGCTGGATGGC -3'
(R):5'- CCAGAAGGGTGCGGACTACATC -3'
Posted On 2015-06-20