Mutagenetix > Incidental Mutation

Incidental Mutation 'R7188:Arsa'

559453

Institutional Source

Beutler Lab

Gene Symbol

Arsa

Ensembl Gene

ENSMUSG00000022620

Gene Name

arylsulfatase A

Synonyms

ASA, As-2, AS-A, As2

MMRRC Submission

045272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R7188 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89356679-89361627 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 89359830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 32 (Y32*)

Ref Sequence

ENSEMBL: ENSMUSP00000127646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165199]

AlphaFold

P50428

Predicted Effect

probably null
Transcript: ENSMUST00000165199
AA Change: Y32*

SMART Domains

Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: Y32*

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000168270

SMART Domains

Protein: ENSMUSP00000130574
Gene: ENSMUSG00000022620

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	1	37	1e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,554,600 (GRCm39)	Y118C	possibly damaging	Het
Abcb6	A	G	1: 75,150,781 (GRCm39)		probably null	Het
Acox2	T	A	14: 8,252,996 (GRCm38)	I236L	possibly damaging	Het
Adamts12	A	T	15: 11,336,411 (GRCm39)	K1499*	probably null	Het
Ankrd24	G	T	10: 81,472,224 (GRCm39)	E20*	probably null	Het
Atp9b	A	G	18: 80,961,041 (GRCm39)	S57P		Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bace1	A	G	9: 45,767,393 (GRCm39)	D192G	probably benign	Het
Bltp1	A	T	3: 37,004,162 (GRCm39)	T1624S	probably benign	Het
Bltp3b	T	C	10: 89,615,744 (GRCm39)	V129A	probably damaging	Het
Cacna1d	T	C	14: 29,811,790 (GRCm39)	S1309G	probably benign	Het
Cd177	G	T	7: 24,456,072 (GRCm39)	T232K	probably damaging	Het
Chil4	T	A	3: 106,111,475 (GRCm39)	D213V	probably damaging	Het
Cmya5	A	T	13: 93,182,546 (GRCm39)	I3538N	probably damaging	Het
Cyp26a1	T	A	19: 37,687,753 (GRCm39)	M287K	possibly damaging	Het
Dcaf5	T	C	12: 80,446,732 (GRCm39)	D129G	probably damaging	Het
Dnah12	A	C	14: 26,536,370 (GRCm39)	K2095N	probably benign	Het
Dnpep	G	A	1: 75,292,701 (GRCm39)	S106L	probably damaging	Het
Dock2	C	T	11: 34,189,675 (GRCm39)	E1499K	possibly damaging	Het
Dus4l	A	G	12: 31,696,714 (GRCm39)	F88L	probably damaging	Het
Fcrl2	A	C	3: 87,166,830 (GRCm39)	D54E	probably benign	Het
Fign	T	A	2: 63,809,950 (GRCm39)	H440L	possibly damaging	Het
Gabpa	A	G	16: 84,643,174 (GRCm39)	D157G	probably damaging	Het
Gapdh	T	A	6: 125,142,403 (GRCm39)		probably benign	Het
Gbp8	G	T	5: 105,164,081 (GRCm39)	R406S	probably benign	Het
Gm21775	A	G	Y: 10,553,894 (GRCm39)	R148G	possibly damaging	Het
Gm28363	G	A	1: 117,626,579 (GRCm39)	V6I	unknown	Het
Gmps	A	G	3: 63,918,982 (GRCm39)	D522G	probably damaging	Het
Gpr75	T	C	11: 30,842,687 (GRCm39)	S531P	probably damaging	Het
Hars2	G	T	18: 36,923,614 (GRCm39)	E468D	probably benign	Het
Jph4	C	A	14: 55,352,664 (GRCm39)	R23L	probably damaging	Het
Kctd12	T	A	14: 103,219,230 (GRCm39)	Y216F	probably benign	Het
L3mbtl1	G	A	2: 162,791,460 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,926,675 (GRCm39)	S3494T	possibly damaging	Het
Mybpc2	A	G	7: 44,155,617 (GRCm39)	S879P	probably benign	Het
Ncaph	C	T	2: 126,964,034 (GRCm39)	V304M	probably benign	Het
Noto	A	T	6: 85,405,047 (GRCm39)	I229F	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,597,731 (GRCm39)	M170V	unknown	Het
Or4c29	T	C	2: 88,740,203 (GRCm39)	D178G	probably damaging	Het
Or8k25	T	A	2: 86,243,695 (GRCm39)	K234*	probably null	Het
Pald1	A	T	10: 61,182,845 (GRCm39)	V368E	probably damaging	Het
Pde9a	T	A	17: 31,678,071 (GRCm39)	M217K	probably damaging	Het
Pira1	A	T	7: 3,741,828 (GRCm39)	V184E	probably damaging	Het
Pitpnm2	G	T	5: 124,259,366 (GRCm39)	A1323E	probably benign	Het
Ppp1r3a	T	C	6: 14,719,190 (GRCm39)	S575G	probably benign	Het
Prok1	T	C	3: 107,146,941 (GRCm39)	I9V	probably benign	Het
Ptprc	A	T	1: 137,998,918 (GRCm39)	V905D	probably damaging	Het
Rbm25	G	T	12: 83,710,772 (GRCm39)	G295V	unknown	Het
Rreb1	T	C	13: 38,100,544 (GRCm39)	M225T	possibly damaging	Het
Ryr3	T	C	2: 112,858,989 (GRCm39)	K55E	probably damaging	Het
Saxo4	T	A	19: 10,459,702 (GRCm39)	M2L	probably benign	Het
Scgb2b26	G	T	7: 33,644,379 (GRCm39)	T4K	probably damaging	Het
Setx	C	A	2: 29,038,184 (GRCm39)	D1556E	probably benign	Het
Sft2d1	C	T	17: 8,542,164 (GRCm39)	T136I	possibly damaging	Het
Sirt5	C	T	13: 43,525,380 (GRCm39)	A63V	possibly damaging	Het
Skor2	A	G	18: 76,947,504 (GRCm39)	T409A	possibly damaging	Het
Slc12a6	T	C	2: 112,164,760 (GRCm39)	M153T	probably benign	Het
Slc34a1	A	G	13: 24,006,348 (GRCm39)	Y458C	probably damaging	Het
Slc36a2	A	G	11: 55,053,483 (GRCm39)	V385A	possibly damaging	Het
St6galnac5	A	T	3: 152,552,131 (GRCm39)	H145Q	probably damaging	Het
Tal1	T	A	4: 114,925,610 (GRCm39)	N226K	probably damaging	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Usp6nl	T	C	2: 6,445,330 (GRCm39)	S436P	probably benign	Het
Utp3	A	G	5: 88,702,621 (GRCm39)	E50G	probably benign	Het
Zfp12	A	T	5: 143,225,749 (GRCm39)	Q19L	probably damaging	Het

Other mutations in Arsa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGAGAATGGTGGACATACCC -3'
(R):5'- TTCGCTGGAGCTTCAGAGAG -3'

Sequencing Primer
(F):5'- TGGACATACCCACAGAGAGACAG -3'
(R):5'- GCTTCAGAGAGTGGACCTAC -3'

Posted On

2019-06-26