Incidental Mutation 'R1930:Arsi'
ID 215316
Institutional Source Beutler Lab
Gene Symbol Arsi
Ensembl Gene ENSMUSG00000036412
Gene Name arylsulfatase i
Synonyms
MMRRC Submission 039948-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R1930 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 61045063-61051633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 61049723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 202 (G202E)
Ref Sequence ENSEMBL: ENSMUSP00000043966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040359]
AlphaFold Q32KI9
Predicted Effect probably benign
Transcript: ENSMUST00000040359
AA Change: G202E

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000043966
Gene: ENSMUSG00000036412
AA Change: G202E

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 0.0626 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,540 (GRCm39) D148E probably damaging Het
4930590J08Rik T C 6: 91,892,002 (GRCm39) V88A probably benign Het
4933430I17Rik A T 4: 62,450,519 (GRCm39) D31V possibly damaging Het
Acsl1 C A 8: 46,984,023 (GRCm39) A514E probably benign Het
Adam29 T C 8: 56,326,124 (GRCm39) Y110C probably damaging Het
Adamts20 T A 15: 94,301,891 (GRCm39) H27L probably benign Het
Ago2 A T 15: 72,991,204 (GRCm39) I578N probably damaging Het
AW011738 T C 4: 156,287,997 (GRCm39) probably benign Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Cav1 A T 6: 17,339,331 (GRCm39) I139F probably damaging Het
Cep152 A T 2: 125,460,291 (GRCm39) probably null Het
Chrnb1 A G 11: 69,683,563 (GRCm39) L261P possibly damaging Het
Cntn3 C T 6: 102,219,014 (GRCm39) W535* probably null Het
Col4a4 A C 1: 82,444,321 (GRCm39) probably null Het
Daam2 A T 17: 49,769,241 (GRCm39) probably null Het
Ddx23 G A 15: 98,548,599 (GRCm39) R370W possibly damaging Het
Dgkh T C 14: 78,853,945 (GRCm39) I265V probably damaging Het
Ece1 A G 4: 137,666,074 (GRCm39) K306R probably benign Het
Fat1 C T 8: 45,497,265 (GRCm39) T4250M possibly damaging Het
Fezf1 T G 6: 23,246,906 (GRCm39) I309L probably damaging Het
Gabra4 T C 5: 71,795,580 (GRCm39) K206E probably damaging Het
Glt8d2 G T 10: 82,500,476 (GRCm39) S91R probably benign Het
H2-Oa A T 17: 34,312,873 (GRCm39) H50L possibly damaging Het
Hsd17b2 T C 8: 118,485,643 (GRCm39) Y369H possibly damaging Het
Hspg2 T A 4: 137,267,541 (GRCm39) S2050T probably damaging Het
Ice1 A T 13: 70,753,202 (GRCm39) S961R probably benign Het
Ift20 G A 11: 78,430,830 (GRCm39) V58I possibly damaging Het
Ippk T A 13: 49,603,494 (GRCm39) F367I probably damaging Het
Klkb1 T A 8: 45,728,514 (GRCm39) Q415L probably benign Het
Krtcap2 T A 3: 89,154,383 (GRCm39) N35K probably damaging Het
Lgi3 T C 14: 70,773,708 (GRCm39) V294A probably damaging Het
Lrp5 C T 19: 3,660,131 (GRCm39) V978I probably benign Het
Magi3 A T 3: 103,996,920 (GRCm39) D208E probably damaging Het
Mc2r T A 18: 68,540,853 (GRCm39) T147S probably benign Het
Mfsd4b1 C A 10: 39,882,070 (GRCm39) A72S probably benign Het
Msln A T 17: 25,970,896 (GRCm39) N150K probably damaging Het
Naaa A G 5: 92,425,894 (GRCm39) V33A probably benign Het
Nol10 A G 12: 17,398,555 (GRCm39) M1V probably null Het
Or4c3 G A 2: 89,851,505 (GRCm39) R302C probably benign Het
Or6c208 T A 10: 129,223,745 (GRCm39) M81K probably benign Het
Osbpl1a T A 18: 13,038,251 (GRCm39) Q269L probably benign Het
Pcnx2 C A 8: 126,614,453 (GRCm39) V333L probably benign Het
Peg10 A G 6: 4,755,778 (GRCm39) Y118C probably damaging Het
Pkhd1l1 A G 15: 44,366,733 (GRCm39) D737G possibly damaging Het
Ptgfr T A 3: 151,540,831 (GRCm39) T226S probably benign Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Scgb2b20 T C 7: 33,065,621 (GRCm39) probably null Het
Sdr16c6 A G 4: 4,058,809 (GRCm39) V259A probably benign Het
Slc16a5 A T 11: 115,360,194 (GRCm39) I126F probably damaging Het
Slc51b T A 9: 65,322,478 (GRCm39) E21V probably damaging Het
Slc8a3 G T 12: 81,361,220 (GRCm39) T533N probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spata3 A C 1: 85,949,783 (GRCm39) probably benign Het
Specc1l A G 10: 75,145,658 (GRCm39) D1101G probably damaging Het
Srf C A 17: 46,860,912 (GRCm39) G401C probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stradb A C 1: 59,030,264 (GRCm39) N173H probably benign Het
Sugp1 T A 8: 70,524,190 (GRCm39) D598E probably benign Het
Tdg T A 10: 82,477,378 (GRCm39) L35Q probably damaging Het
Tekt2 T C 4: 126,216,610 (GRCm39) probably null Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tmprss2 T C 16: 97,370,262 (GRCm39) S301G probably benign Het
Tnrc18 A T 5: 142,762,079 (GRCm39) N515K unknown Het
Togaram1 A G 12: 65,013,709 (GRCm39) Y320C probably damaging Het
Tspyl3 A G 2: 153,066,717 (GRCm39) F174L probably damaging Het
Ttn C T 2: 76,553,193 (GRCm39) D31099N probably damaging Het
Ugt2b1 T A 5: 87,065,700 (GRCm39) L446F probably damaging Het
Utp25 T A 1: 192,800,617 (GRCm39) K401I probably damaging Het
Wdfy3 A G 5: 102,089,358 (GRCm39) L612P probably damaging Het
Zfp109 G A 7: 23,928,161 (GRCm39) T424M probably damaging Het
Zfp60 T A 7: 27,436,382 (GRCm39) M1K 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
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'- GGATTGCAGCACTCCATTATCC -3'
(R):5'- TCACCATGGCTGCGTACTTG -3'

Sequencing Primer
(F):5'- TACAGGAGGCAGGCTACTC -3'
(R):5'- TACTTGCGCCGTGCTACG -3'
Posted On 2014-07-14