Incidental Mutation 'IGL02079:Arsa'
ID186073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arsa
Ensembl Gene ENSMUSG00000022620
Gene Namearylsulfatase A
SynonymsAs2, As-2, ASA, AS-A
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.269) question?
Stock #IGL02079
Quality Score
Status
Chromosome15
Chromosomal Location89472476-89477425 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89473351 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 470 (T470A)
Ref Sequence ENSEMBL: ENSMUSP00000127646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165199]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000023292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136218
Predicted Effect probably benign
Transcript: ENSMUST00000165199
AA Change: T470A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: T470A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Sulfatase 20 345 4.2e-79 PFAM
Pfam:Sulfatase_C 367 501 1.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168052
Predicted Effect probably benign
Transcript: ENSMUST00000168270
SMART Domains Protein: ENSMUSP00000130574
Gene: ENSMUSG00000022620

DomainStartEndE-ValueType
Pfam:Sulfatase 1 37 1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168835
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mice exhibit impaired balance and spatial learning ability. Sulfatide accumulates in the white matter of the brain and a reduced myelin sheath thickness in the corpus callosum and optic nerves is seen. A low frequency of head tremor develops after 2 years of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik T A 3: 108,481,359 N236I possibly damaging Het
Abl1 T C 2: 31,689,948 probably benign Het
Ago4 A T 4: 126,517,084 M204K probably damaging Het
Alms1 T C 6: 85,628,634 V2422A probably damaging Het
Ap5z1 T C 5: 142,477,113 probably null Het
Bri3bp T C 5: 125,454,689 V233A probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ephb6 T A 6: 41,616,014 D395E possibly damaging Het
Flt1 T A 5: 147,568,831 probably benign Het
Fry A T 5: 150,399,624 N1080I probably damaging Het
Gdpgp1 T A 7: 80,239,020 D266E probably benign Het
Gspt1 A G 16: 11,240,829 S123P probably benign Het
Kctd17 T C 15: 78,430,156 probably benign Het
Lamb2 T A 9: 108,482,113 C313S probably damaging Het
Lcor T A 19: 41,555,687 S106R probably benign Het
Lgr5 A C 10: 115,452,194 S776R probably damaging Het
Mettl16 T G 11: 74,817,624 C510G probably damaging Het
Mlip T C 9: 77,239,529 T101A possibly damaging Het
Myh6 A T 14: 54,950,541 L1152Q probably damaging Het
Mylk G A 16: 34,860,631 R87H possibly damaging Het
Npepl1 C T 2: 174,119,390 probably benign Het
Nrxn1 A T 17: 90,643,083 M548K probably damaging Het
Olfr1205 T A 2: 88,831,647 C177S probably damaging Het
Olfr514 T A 7: 108,825,936 E21V probably damaging Het
Pate3 T A 9: 35,646,153 Q69L probably damaging Het
Piwil1 T C 5: 128,742,003 V192A possibly damaging Het
Plcxd2 A T 16: 45,972,343 I211N probably benign Het
Plekhg3 T A 12: 76,560,429 Y88N probably benign Het
Rabgap1l C T 1: 160,738,970 C58Y probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rusc2 A G 4: 43,425,668 S1258G probably benign Het
Scn1a T C 2: 66,323,360 R710G probably benign Het
Wwc1 A G 11: 35,876,058 S457P probably damaging Het
Xdh C T 17: 73,891,277 G1205D probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T C 7: 81,039,230 S1080P probably benign Het
Other mutations in Arsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02381:Arsa APN 15 89475537 nonsense probably null
IGL02416:Arsa APN 15 89474788 missense probably damaging 1.00
IGL02997:Arsa APN 15 89474038 missense probably damaging 0.99
R0066:Arsa UTSW 15 89474336 missense possibly damaging 0.88
R0066:Arsa UTSW 15 89474336 missense possibly damaging 0.88
R0630:Arsa UTSW 15 89474004 splice site probably benign
R1052:Arsa UTSW 15 89475177 missense probably damaging 1.00
R1079:Arsa UTSW 15 89474225 splice site probably benign
R1807:Arsa UTSW 15 89475322 missense possibly damaging 0.54
R1943:Arsa UTSW 15 89473539 missense probably damaging 1.00
R2231:Arsa UTSW 15 89475722 start codon destroyed probably null
R5099:Arsa UTSW 15 89475339 missense probably damaging 1.00
R5461:Arsa UTSW 15 89473275 missense probably benign
R6259:Arsa UTSW 15 89475521 missense probably damaging 1.00
R7159:Arsa UTSW 15 89474718 splice site probably null
R7188:Arsa UTSW 15 89475627 nonsense probably null
R7735:Arsa UTSW 15 89474949 nonsense probably null
R7943:Arsa UTSW 15 89474089 missense probably damaging 1.00
R8127:Arsa UTSW 15 89474864 missense probably damaging 1.00
R8287:Arsa UTSW 15 89473390 missense probably benign 0.23
Posted On2014-05-07