Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Arsa'

18044

Institutional Source

Beutler Lab

Gene Symbol

Arsa

Ensembl Gene

ENSMUSG00000022620

Gene Name

arylsulfatase A

Synonyms

ASA, As-2, AS-A, As2

MMRRC Submission

038357-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R0066 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89356679-89361627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89358539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 288 (M288L)

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

possibly damaging
Transcript: ENSMUST00000165199
AA Change: M288L

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: M288L

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

noncoding transcript
Transcript: ENSMUST00000166953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168052

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168835

Meta Mutation Damage Score

0.1026

Coding Region Coverage

1x: 89.0%
3x: 85.6%
10x: 75.4%
20x: 57.8%

Validation Efficiency

94% (112/119)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,119,177 (GRCm39)		noncoding transcript	Het
Aco2	T	C	15: 81,787,666 (GRCm39)		probably benign	Het
Atg2b	A	T	12: 105,614,708 (GRCm39)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,221,372 (GRCm39)	I174N	probably damaging	Het
Bptf	A	G	11: 106,952,962 (GRCm39)	V199A	possibly damaging	Het
Btn2a2	T	A	13: 23,662,655 (GRCm39)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,395,850 (GRCm39)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,730,037 (GRCm39)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,786,964 (GRCm39)	L1421R	probably damaging	Het
Col6a6	A	T	9: 105,579,412 (GRCm39)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,795,418 (GRCm39)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,214,976 (GRCm39)	N32K	probably benign	Het
Ctrb1	G	A	8: 112,413,269 (GRCm39)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,275,958 (GRCm39)	M208L	probably benign	Het
Dbt	A	G	3: 116,337,478 (GRCm39)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm39)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,226,447 (GRCm39)	N361I	probably benign	Het
Dnm3	A	G	1: 162,234,930 (GRCm39)	V70A	probably damaging	Het
Dpy19l2	G	A	9: 24,557,679 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,228,634 (GRCm39)	H2254N	possibly damaging	Het
Eif2b1	T	G	5: 124,711,858 (GRCm39)		probably null	Het
Epm2aip1	A	G	9: 111,101,531 (GRCm39)	N168S	probably benign	Het
Fchsd2	A	G	7: 100,927,631 (GRCm39)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,788,398 (GRCm39)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,477,963 (GRCm39)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,679,404 (GRCm39)	I211F	probably damaging	Het
Gm15130	A	G	2: 110,969,284 (GRCm39)		probably benign	Het
Gm19618	A	T	6: 87,691,227 (GRCm39)			Het
Gpatch1	G	A	7: 34,986,652 (GRCm39)	S768L	probably damaging	Het
Grb14	T	G	2: 64,768,836 (GRCm39)		probably null	Het
Hnrnpd	T	C	5: 100,112,560 (GRCm39)	E222G	probably damaging	Het
Ighv1-4	A	G	12: 114,450,989 (GRCm39)	S40P	possibly damaging	Het
Kcnh4	T	C	11: 100,648,626 (GRCm39)	H26R	probably benign	Het
Kctd2	T	G	11: 115,320,343 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,325,943 (GRCm39)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,969,902 (GRCm39)		probably benign	Het
Mmab	T	C	5: 114,574,526 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,266,011 (GRCm39)	S310P	probably benign	Het
Mrps21	T	C	3: 95,770,197 (GRCm39)	Y44C	probably null	Het
Myh10	T	A	11: 68,590,317 (GRCm39)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,820,677 (GRCm39)	D840G	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm39)		probably benign	Het
Ntsr2	T	C	12: 16,704,120 (GRCm39)	I207T	probably benign	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Or11j4	T	A	14: 50,630,659 (GRCm39)	F149I	probably benign	Het
Pkd1l3	G	T	8: 110,347,103 (GRCm39)	G159C	unknown	Het
Plcb4	T	C	2: 135,803,689 (GRCm39)	S521P	probably benign	Het
Plcl1	A	T	1: 55,752,634 (GRCm39)	I993F	probably damaging	Het
Plekha7	T	C	7: 115,756,743 (GRCm39)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,240,222 (GRCm39)	N993T	probably benign	Het
Reck	A	G	4: 43,930,936 (GRCm39)	N646D	probably damaging	Het
Rfx2	A	T	17: 57,093,736 (GRCm39)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm39)	Q436*	probably null	Het
Ryr1	C	T	7: 28,704,992 (GRCm39)		probably benign	Het
Sema6b	A	G	17: 56,435,271 (GRCm39)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,909,833 (GRCm39)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,732,326 (GRCm39)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,391,875 (GRCm39)	V520F	probably benign	Het
Sptan1	C	A	2: 29,893,679 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,879,027 (GRCm39)		probably benign	Het
Tbc1d17	C	T	7: 44,493,495 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,394,590 (GRCm39)	L49*	probably null	Het
Tulp4	A	T	17: 6,252,008 (GRCm39)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 103,798,145 (GRCm39)	W451R	probably damaging	Het
Usp53	G	T	3: 122,746,956 (GRCm39)	C363*	probably null	Het
Utp4	A	G	8: 107,649,530 (GRCm39)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,641 (GRCm39)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,463,409 (GRCm39)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 21,109,998 (GRCm39)	R306G	probably benign	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het
Vps8	A	G	16: 21,296,273 (GRCm39)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,796,937 (GRCm39)	Y104*	probably null	Het
Xab2	A	T	8: 3,663,880 (GRCm39)	N346K	probably damaging	Het
Zdhhc12	C	T	2: 29,982,547 (GRCm39)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,043,064 (GRCm39)	S379P	probably benign	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
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
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

Posted On

2013-03-25