|Institutional Source||Beutler Lab|
|Gene Name||arylsulfatase A|
|Synonyms||As2, As-2, ASA, AS-A|
|Is this an essential gene?||Possibly non essential (E-score: 0.269)|
|Stock #||R8127 (G1)|
|Chromosomal Location||89472476-89477425 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 89474864 bp|
|Amino Acid Change||Tyrosine to Histidine at position 200 (Y200H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000127646 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165199]|
|Predicted Effect||probably damaging
AA Change: Y200H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y200H
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
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||
|Other mutations in Arsa||
(F):5'- CCATCAAGGAGTCCCCAAATGG -3'
(R):5'- ACTGTACCCTAACCCGTAGC -3'
(F):5'- GAAGCTTTGTCCACTGAACTGAG -3'
(R):5'- TAACCCGTAGCCAGTCCTC -3'