Incidental Mutation 'IGL03134:Arsi'
ID 453192
Institutional Source Beutler Lab
Gene Symbol Arsi
Ensembl Gene ENSMUSG00000036412
Gene Name arylsulfatase i
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03134 (G1)
Quality Score 101
Status Validated
Chromosome 18
Chromosomal Location 61045063-61051633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 61050424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 436 (W436G)
Ref Sequence ENSEMBL: ENSMUSP00000043966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040359]
AlphaFold Q32KI9
Predicted Effect probably damaging
Transcript: ENSMUST00000040359
AA Change: W436G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043966
Gene: ENSMUSG00000036412
AA Change: W436G

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 0.9188 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (66/66)
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
4932414J04Rik A T 11: 21,457,249 (GRCm39) noncoding transcript Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Afdn C T 17: 14,066,548 (GRCm39) T580I probably benign Het
Ankfy1 G T 11: 72,603,011 (GRCm39) L13F probably damaging Het
Arhgap12 T C 18: 6,111,936 (GRCm39) T143A probably benign Het
Bcl2l10 C T 9: 75,255,480 (GRCm39) T99M probably damaging Het
Cacna1a A G 8: 85,285,716 (GRCm39) Q740R probably damaging Het
Cacna1g A G 11: 94,350,651 (GRCm39) F398S probably damaging Het
Ccrl2 A C 9: 110,884,725 (GRCm39) Y258D probably damaging Het
Cemip T A 7: 83,648,445 (GRCm39) D38V probably damaging Het
Chd6 C G 2: 160,807,403 (GRCm39) C1937S possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Col1a2 T G 6: 4,521,387 (GRCm39) probably benign Het
Col4a1 T C 8: 11,290,069 (GRCm39) probably null Het
Cops7b T A 1: 86,520,056 (GRCm39) L69Q probably damaging Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Ddx3y T A Y: 1,278,949 (GRCm39) D163V possibly damaging Het
Dnajc19 A G 3: 34,132,884 (GRCm39) probably benign Het
Fhip2b T C 14: 70,826,149 (GRCm39) T288A possibly damaging Het
G2e3 T A 12: 51,410,813 (GRCm39) probably benign Het
Gimap7 A G 6: 48,700,435 (GRCm39) N7S probably benign Het
Gkap1 G A 13: 58,411,746 (GRCm39) probably benign Het
Gm3404 G A 5: 146,463,706 (GRCm39) R117Q probably benign Het
Herc1 T TN 9: 66,341,345 (GRCm39) probably benign Homo
Homer3 T C 8: 70,738,985 (GRCm39) Y115H probably benign Het
Ighv10-1 T A 12: 114,442,689 (GRCm39) M99L probably benign Het
Kdm2b A C 5: 123,070,737 (GRCm39) S398R probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mettl25 G A 10: 105,661,888 (GRCm39) Q361* probably null Het
Mkrn2 T A 6: 115,590,496 (GRCm39) I284N probably damaging Het
Mmp14 T A 14: 54,676,563 (GRCm39) N369K probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Myo6 C G 9: 80,199,749 (GRCm39) N1019K probably damaging Het
Myo7a C T 7: 97,705,974 (GRCm39) V1857I probably damaging Het
Nhsl3 A G 4: 129,116,280 (GRCm39) S783P possibly damaging Het
Nktr T C 9: 121,575,532 (GRCm39) S347P probably damaging Het
Nup210 T G 6: 91,007,172 (GRCm39) D548A probably damaging Het
Nup210l A G 3: 90,098,194 (GRCm39) Y1382C possibly damaging Het
Or14c41 G A 7: 86,235,220 (GRCm39) V246M probably damaging Het
Or1e23 T A 11: 73,407,941 (GRCm39) Y28F probably benign Het
Pax8 T C 2: 24,311,403 (GRCm39) probably benign Het
Pcdhgb7 A G 18: 37,884,935 (GRCm39) Y35C probably damaging Het
Pld1 A T 3: 28,083,316 (GRCm39) R145S probably benign Het
Pom121 G A 5: 135,410,935 (GRCm39) P741S unknown Het
Rarb T C 14: 16,436,910 (GRCm38) N204D probably damaging Het
Sdc3 A G 4: 130,548,815 (GRCm39) E337G probably benign Het
Serpina9 T C 12: 103,967,696 (GRCm39) K233R probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sspo T A 6: 48,427,999 (GRCm39) M159K probably benign Het
Stxbp4 C A 11: 90,498,010 (GRCm39) R96S probably damaging Het
Tg A C 15: 66,612,567 (GRCm39) E375A probably damaging Het
Tmem176b A G 6: 48,815,287 (GRCm39) V2A probably benign Het
Toporsl G A 4: 52,610,281 (GRCm39) C58Y probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Vav3 T C 3: 109,470,410 (GRCm39) probably benign Het
Zfp180 T A 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Zfp407 C T 18: 84,228,080 (GRCm39) S1843N probably damaging 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
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
R4258:Arsi UTSW 18 61,050,388 (GRCm39) missense probably damaging 1.00
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'- CGGTACTACATCAGCAGCTG -3'
(R):5'- TATAATCAGCCAGGCGAGCC -3'

Sequencing Primer
(F):5'- GCTATGATGTATGGCCAGCC -3'
(R):5'- CCAGAAGGGTGCGGACTACATC -3'
Posted On 2017-01-30