Incidental Mutation 'R1079:Arsa'
ID 85801
Institutional Source Beutler Lab
Gene Symbol Arsa
Ensembl Gene ENSMUSG00000022620
Gene Name arylsulfatase A
Synonyms ASA, As-2, AS-A, As2
MMRRC Submission 039165-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R1079 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89356679-89361627 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 89358428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000165199]
AlphaFold P50428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000023292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136218
Predicted Effect probably benign
Transcript: ENSMUST00000165199
SMART Domains Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (46/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik T C 7: 30,399,209 (GRCm39) M1T probably null Het
Adam25 T C 8: 41,208,513 (GRCm39) V593A possibly damaging Het
Agrn C T 4: 156,261,682 (GRCm39) C536Y probably damaging Het
Amigo3 T C 9: 107,931,051 (GRCm39) M158T probably benign Het
Baz1a T A 12: 54,941,785 (GRCm39) I1474L possibly damaging Het
Cfap144 A G 11: 58,692,620 (GRCm39) Y36H probably benign Het
Cfap65 A G 1: 74,944,872 (GRCm39) V1455A probably damaging Het
Cfap65 G A 1: 74,941,606 (GRCm39) A1776V probably damaging Het
Cnot6 G T 11: 49,575,930 (GRCm39) D176E probably benign Het
Crot A T 5: 9,043,504 (GRCm39) probably null Het
Cryba2 A T 1: 74,929,717 (GRCm39) V140E probably damaging Het
Dennd4b G A 3: 90,178,485 (GRCm39) R516K probably benign Het
Dst C A 1: 34,225,944 (GRCm39) T1697N possibly damaging Het
Eftud2 G T 11: 102,730,870 (GRCm39) Y837* probably null Het
Evpl G T 11: 116,120,894 (GRCm39) T447K possibly damaging Het
Fndc3a A T 14: 72,827,247 (GRCm39) M146K possibly damaging Het
Folh1 G T 7: 86,421,089 (GRCm39) T80K probably damaging Het
Gm4922 T A 10: 18,660,086 (GRCm39) Y212F probably damaging Het
Gtf2i T G 5: 134,271,748 (GRCm39) probably benign Het
Hipk3 A G 2: 104,302,043 (GRCm39) F50L probably benign Het
Ifit1bl2 T A 19: 34,596,885 (GRCm39) T244S probably benign Het
Ikzf2 T C 1: 69,578,264 (GRCm39) D341G possibly damaging Het
Kif3a G C 11: 53,461,408 (GRCm39) V17L possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lzts2 T A 19: 45,011,983 (GRCm39) N137K probably damaging Het
Mphosph8 T A 14: 56,911,716 (GRCm39) D246E probably damaging Het
Myh14 T C 7: 44,279,426 (GRCm39) E918G probably damaging Het
N6amt1 T C 16: 87,153,086 (GRCm39) V52A probably damaging Het
Npr2 A C 4: 43,643,654 (GRCm39) T561P probably damaging Het
Nudt12 G A 17: 59,318,032 (GRCm39) probably benign Het
Or10ad1 A C 15: 98,106,223 (GRCm39) V14G probably damaging Het
Or5w8 A G 2: 87,687,699 (GRCm39) Y60C probably damaging Het
Or6n2 A T 1: 173,897,032 (GRCm39) H56L possibly damaging Het
Or8k22 T A 2: 86,163,185 (GRCm39) R172W probably damaging Het
Pan2 A G 10: 128,154,107 (GRCm39) T1050A probably damaging Het
Rad17 G T 13: 100,770,407 (GRCm39) D213E probably benign Het
Sall2 T A 14: 52,550,660 (GRCm39) H843L probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sema3e A T 5: 14,275,669 (GRCm39) N258I probably benign Het
Siglec1 G A 2: 130,921,297 (GRCm39) R625* probably null Het
Slc15a3 T C 19: 10,833,344 (GRCm39) S454P probably benign Het
Sp110 G A 1: 85,516,825 (GRCm39) probably benign Het
Spatc1l T C 10: 76,399,741 (GRCm39) S88P probably damaging Het
Ssh3 A C 19: 4,316,577 (GRCm39) L143R probably damaging Het
Ttn C T 2: 76,587,340 (GRCm39) probably benign Het
Vps35 A G 8: 86,005,683 (GRCm39) L306S probably damaging Het
Zfp729a T C 13: 67,767,794 (GRCm39) I812V possibly damaging Het
Other mutations in Arsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02079:Arsa APN 15 89,357,554 (GRCm39) missense probably benign 0.04
IGL02381:Arsa APN 15 89,359,740 (GRCm39) nonsense probably null
IGL02416:Arsa APN 15 89,358,991 (GRCm39) missense probably damaging 1.00
IGL02997:Arsa APN 15 89,358,241 (GRCm39) missense probably damaging 0.99
R0066:Arsa UTSW 15 89,358,539 (GRCm39) missense possibly damaging 0.88
R0066:Arsa UTSW 15 89,358,539 (GRCm39) missense possibly damaging 0.88
R0630:Arsa UTSW 15 89,358,207 (GRCm39) splice site probably benign
R1052:Arsa UTSW 15 89,359,380 (GRCm39) missense probably damaging 1.00
R1807:Arsa UTSW 15 89,359,525 (GRCm39) missense possibly damaging 0.54
R1943:Arsa UTSW 15 89,357,742 (GRCm39) missense probably damaging 1.00
R2231:Arsa UTSW 15 89,359,925 (GRCm39) start codon destroyed probably null
R5099:Arsa UTSW 15 89,359,542 (GRCm39) missense probably damaging 1.00
R5461:Arsa UTSW 15 89,357,478 (GRCm39) missense probably benign
R6259:Arsa UTSW 15 89,359,724 (GRCm39) missense probably damaging 1.00
R7159:Arsa UTSW 15 89,358,921 (GRCm39) splice site probably null
R7188:Arsa UTSW 15 89,359,830 (GRCm39) nonsense probably null
R7735:Arsa UTSW 15 89,359,152 (GRCm39) nonsense probably null
R7943:Arsa UTSW 15 89,358,292 (GRCm39) missense probably damaging 1.00
R8127:Arsa UTSW 15 89,359,067 (GRCm39) missense probably damaging 1.00
R8287:Arsa UTSW 15 89,357,593 (GRCm39) missense probably benign 0.23
R8789:Arsa UTSW 15 89,358,260 (GRCm39) missense probably benign
R9152:Arsa UTSW 15 89,359,995 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TACTCAGGGGCCACTCATCAAAGG -3'
(R):5'- TCGAGAGGTGCTAGGCACGTTATG -3'

Sequencing Primer
(F):5'- GAGACATGAGGCATGTACTCTCC -3'
(R):5'- TATGGTGATCCATAACCAGCAGTG -3'
Posted On 2013-11-18