Incidental Mutation 'R5461:Arsa'
ID 433045
Institutional Source Beutler Lab
Gene Symbol Arsa
Ensembl Gene ENSMUSG00000022620
Gene Name arylsulfatase A
Synonyms ASA, As-2, AS-A, As2
MMRRC Submission 043023-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R5461 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89356679-89361627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89357478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 495 (H495R)
Ref Sequence ENSEMBL: ENSMUSP00000127646 (fasta)
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
AA Change: H495R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: H495R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,643 (GRCm39) I405K possibly damaging Het
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Adgrg6 A T 10: 14,296,248 (GRCm39) W1079R probably damaging Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Brsk2 T C 7: 141,541,643 (GRCm39) L152P probably damaging Het
C8a T C 4: 104,673,042 (GRCm39) probably benign Het
Ccdc177 G A 12: 80,804,816 (GRCm39) A486V unknown Het
Cpa2 A G 6: 30,544,180 (GRCm39) T38A probably benign Het
Crim1 T G 17: 78,545,236 (GRCm39) C133G probably damaging Het
Dnah2 C T 11: 69,364,177 (GRCm39) probably null Het
Ep400 G A 5: 110,824,550 (GRCm39) Q2392* probably null Het
Exoc2 C T 13: 31,109,738 (GRCm39) S210N possibly damaging Het
Gm7003 A G 12: 113,766,847 (GRCm39) probably benign Het
Hydin A G 8: 111,245,863 (GRCm39) K2192R probably damaging Het
Ica1l T C 1: 60,053,010 (GRCm39) D176G probably damaging Het
Ints10 G A 8: 69,246,693 (GRCm39) E8K possibly damaging Het
Itgb8 T C 12: 119,131,740 (GRCm39) E635G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kng1 A G 16: 22,897,887 (GRCm39) H429R probably benign Het
Mcm3 T C 1: 20,884,661 (GRCm39) I281V probably benign Het
Msi1 T C 5: 115,579,450 (GRCm39) S200P possibly damaging Het
Nat3 T C 8: 68,000,514 (GRCm39) L131P probably damaging Het
Ncor2 T C 5: 125,104,177 (GRCm39) E1752G probably damaging Het
Nnt C T 13: 119,505,131 (GRCm39) A414T possibly damaging Het
Nrp2 C T 1: 62,786,370 (GRCm39) Q292* probably null Het
Or51ah3 T A 7: 103,209,780 (GRCm39) L32Q probably damaging Het
Or52k2 G A 7: 102,253,615 (GRCm39) G18D probably damaging Het
Otop1 A T 5: 38,457,059 (GRCm39) I273F probably damaging Het
Phactr3 T A 2: 177,920,694 (GRCm39) N177K probably benign Het
Pik3c2b C T 1: 133,027,440 (GRCm39) T1313I possibly damaging Het
Pikfyve C A 1: 65,274,192 (GRCm39) D677E probably damaging Het
Poc1a T C 9: 106,165,209 (GRCm39) F157L probably damaging Het
Prodh2 G T 7: 30,193,948 (GRCm39) R185L possibly damaging Het
Rcc1 T C 4: 132,061,497 (GRCm39) I350M probably benign Het
Rhd G A 4: 134,611,928 (GRCm39) A249T probably damaging Het
Rtf2 A G 2: 172,287,252 (GRCm39) Y57C probably damaging Het
Shmt1 A G 11: 60,685,725 (GRCm39) S284P possibly damaging Het
Shpk T C 11: 73,090,361 (GRCm39) V6A probably benign Het
Slc4a5 T C 6: 83,262,836 (GRCm39) V661A probably benign Het
Spesp1 A T 9: 62,180,014 (GRCm39) L298Q probably damaging Het
Tas1r2 C A 4: 139,387,320 (GRCm39) Q231K probably benign Het
Tcp11l1 T C 2: 104,518,856 (GRCm39) Y280C probably benign Het
Tnip1 T C 11: 54,801,625 (GRCm39) probably benign Het
Topbp1 T A 9: 103,192,395 (GRCm39) D295E probably benign Het
Unc79 C T 12: 103,078,397 (GRCm39) L1521F probably damaging Het
Usp10 T C 8: 120,683,406 (GRCm39) I759T probably benign Het
Vmn1r30 A T 6: 58,412,759 (GRCm39) C24* probably null Het
Vmn2r104 T A 17: 20,250,343 (GRCm39) I643F probably damaging Het
Wwc1 T A 11: 35,758,199 (GRCm39) T716S probably damaging Het
Zfp949 C T 9: 88,451,537 (GRCm39) T369M probably benign Het
Zhx3 A G 2: 160,621,938 (GRCm39) V743A probably benign 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
R1079:Arsa UTSW 15 89,358,428 (GRCm39) splice site probably benign
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
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'- CTCAGCTGGTGTTATTACATTACC -3'
(R):5'- AGATCCTGCCTGTCATGCTG -3'

Sequencing Primer
(F):5'- GCTGGTGTTATTACATTACCAGATAC -3'
(R):5'- ACGACTTATCTCAGGACCCTGG -3'
Posted On 2016-10-06