Incidental Mutation 'R6197:Arsi'
ID 503008
Institutional Source Beutler Lab
Gene Symbol Arsi
Ensembl Gene ENSMUSG00000036412
Gene Name arylsulfatase i
Synonyms
MMRRC Submission 044337-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6197 (G1)
Quality Score 225.009
Status 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 92% (49/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T A 5: 3,630,442 (GRCm39) Y119* probably null Het
Abcb9 C A 5: 124,209,812 (GRCm39) E664* probably null Het
Adgrl2 T C 3: 148,564,578 (GRCm39) D334G probably damaging Het
Ak9 T G 10: 41,193,826 (GRCm39) C57G probably damaging Het
Als2cl A G 9: 110,724,952 (GRCm39) K809E probably damaging Het
Atp11a A G 8: 12,896,099 (GRCm39) I223V probably benign Het
Cacna2d3 A T 14: 28,630,278 (GRCm39) V1022E probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Cd37 A G 7: 44,886,598 (GRCm39) C85R probably damaging Het
Ces1g T C 8: 94,063,764 (GRCm39) S7G probably benign Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnbd2 A G 2: 156,217,494 (GRCm39) E661G possibly damaging Het
Col6a3 A T 1: 90,750,063 (GRCm39) F257Y probably damaging Het
Cpt1b T C 15: 89,309,037 (GRCm39) Y55C possibly damaging Het
Csmd1 A G 8: 15,976,611 (GRCm39) V2869A probably benign Het
Dnah11 T C 12: 118,143,482 (GRCm39) E387G probably benign Het
Eny2 T A 15: 44,292,949 (GRCm39) probably null Het
Fbxo10 G T 4: 45,043,857 (GRCm39) H655Q probably benign Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Gpx2 C T 12: 76,842,068 (GRCm39) G28S probably damaging Het
H2-Q5 G T 17: 35,613,918 (GRCm39) A156S probably benign Het
Hoxd4 A G 2: 74,558,807 (GRCm39) D210G possibly damaging Het
Hoxd9 A G 2: 74,529,166 (GRCm39) Q256R probably damaging Het
Macf1 A G 4: 123,346,085 (GRCm39) V2571A probably damaging Het
Mtus1 A G 8: 41,537,074 (GRCm39) V214A possibly damaging Het
Myh1 C T 11: 67,111,793 (GRCm39) A1716V probably benign Het
Nbeal1 A G 1: 60,261,287 (GRCm39) D249G probably damaging Het
Nup54 TCTGCTGCTGCTGCTGCTGCTGCTG TCTGCTGCTGCTGCTGCTGCTG 5: 92,578,663 (GRCm39) probably benign Het
Or10v9 G T 19: 11,833,148 (GRCm39) H56Q probably damaging Het
Or4c124 A T 2: 89,155,677 (GRCm39) N282K probably damaging Het
Or5w17 C T 2: 87,583,696 (GRCm39) V214I probably benign Het
Or7a37 T G 10: 78,805,974 (GRCm39) L164V probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pramel23 T C 4: 143,423,886 (GRCm39) Y301C possibly damaging Het
Prss59 A G 6: 40,897,939 (GRCm39) I248T probably benign Het
Pwwp2a A G 11: 43,595,423 (GRCm39) D196G probably benign Het
Rarg A T 15: 102,150,327 (GRCm39) C93S possibly damaging Het
Rcc1 T C 4: 132,065,073 (GRCm39) D150G possibly damaging Het
Ripk2 A G 4: 16,163,330 (GRCm39) Y23H probably damaging Het
Rragc A G 4: 123,811,340 (GRCm39) Y5C possibly damaging Het
Rubcnl G A 14: 75,269,369 (GRCm39) G9D probably damaging Het
Sephs2 A T 7: 126,872,073 (GRCm39) V340E probably damaging Het
Slc22a3 C T 17: 12,677,438 (GRCm39) M243I probably benign Het
Slco6c1 A G 1: 97,000,518 (GRCm39) probably null Het
Sncaip T G 18: 53,039,966 (GRCm39) I308R probably damaging Het
Supt16 G A 14: 52,408,338 (GRCm39) T869M probably damaging Het
Tanc1 G A 2: 59,674,366 (GRCm39) E1817K possibly damaging Het
Usp4 C A 9: 108,248,154 (GRCm39) Q395K probably damaging Het
Usp49 T A 17: 47,984,272 (GRCm39) S210T possibly damaging Het
Virma A G 4: 11,505,498 (GRCm39) I124M probably damaging Het
Vmn1r234 G A 17: 21,449,589 (GRCm39) V168I probably benign Het
Vnn3 T A 10: 23,732,187 (GRCm39) C146S probably damaging Het
Ylpm1 A G 12: 85,088,953 (GRCm39) D1234G probably damaging Het
Zfp617 T A 8: 72,687,098 (GRCm39) V476E probably benign 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
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
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'- TGCAGCACTCCATTATCCGC -3'
(R):5'- TCACCATGGCTGCGTACTTG -3'

Sequencing Primer
(F):5'- TACAGGAGGCAGGCTACTC -3'
(R):5'- TACTTGCGCCGTGCTACG -3'
Posted On 2018-02-27