Mutagenetix > Incidental Mutation

Incidental Mutation 'R1807:Arsa'

203568

Institutional Source

Beutler Lab

Gene Symbol

Arsa

Ensembl Gene

ENSMUSG00000022620

Gene Name

arylsulfatase A

Synonyms

ASA, As-2, AS-A, As2

MMRRC Submission

039836-MU

Accession Numbers

Essential gene?

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

Stock #

R1807 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

89356679-89361627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89359525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 86 (M86V)

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: M86V

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: M86V

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

0.0597

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.7%

Validation Efficiency

97% (77/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	T	17: 36,205,961 (GRCm39)	W27*	probably null	Het
4933430I17Rik	T	A	4: 62,460,993 (GRCm39)	Y289*	probably null	Het
A3galt2	A	G	4: 128,661,394 (GRCm39)	I348V	probably benign	Het
Abca13	A	G	11: 9,241,755 (GRCm39)	Y1206C	probably damaging	Het
Adar	T	C	3: 89,642,172 (GRCm39)	S18P	probably benign	Het
Akr1cl	T	C	1: 65,061,106 (GRCm39)	D139G	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,873 (GRCm39)	Y137C	possibly damaging	Het
Atg9b	C	A	5: 24,592,055 (GRCm39)	R648L	probably damaging	Het
Atrn	A	G	2: 130,824,692 (GRCm39)	N1042S	possibly damaging	Het
Ccdc6	T	A	10: 70,010,989 (GRCm39)	D325E	possibly damaging	Het
Cdk12	T	C	11: 98,101,203 (GRCm39)	S354P	unknown	Het
Chst3	T	A	10: 60,022,130 (GRCm39)	Y239F	probably benign	Het
Cilp2	C	A	8: 70,334,844 (GRCm39)	R718L	probably damaging	Het
Col27a1	A	G	4: 63,249,586 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,616,137 (GRCm39)	N266S	probably benign	Het
Ctnnd2	T	C	15: 30,620,017 (GRCm39)	V123A	probably damaging	Het
Cyria	G	A	12: 12,411,505 (GRCm39)	R123Q	probably benign	Het
D7Ertd443e	T	A	7: 133,895,034 (GRCm39)	E552V	probably null	Het
Dcst1	T	A	3: 89,260,848 (GRCm39)	H516L	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Drd2	C	T	9: 49,316,367 (GRCm39)	L376F	probably damaging	Het
Edn1	A	G	13: 42,460,270 (GRCm39)	N175S	probably damaging	Het
Eipr1	G	T	12: 28,816,838 (GRCm39)	G65V	probably damaging	Het
Epha4	G	A	1: 77,351,541 (GRCm39)	P905S	probably benign	Het
Erbb2	T	C	11: 98,319,680 (GRCm39)	Y591H	probably damaging	Het
Fam135b	G	A	15: 71,335,761 (GRCm39)	R478C	probably benign	Het
Fat2	T	C	11: 55,180,085 (GRCm39)	T1419A	probably damaging	Het
Flnb	C	T	14: 7,934,645 (GRCm38)	T2239I	probably benign	Het
Gm7713	T	C	15: 59,866,320 (GRCm39)		noncoding transcript	Het
Hsf5	C	T	11: 87,548,168 (GRCm39)	P617L	probably benign	Het
Kcnk12	C	A	17: 88,053,468 (GRCm39)	R398L	probably benign	Het
Kif21b	T	A	1: 136,075,531 (GRCm39)	N219K	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra5	A	T	6: 129,876,383 (GRCm39)	F141L	probably benign	Het
Lmtk3	C	T	7: 45,442,702 (GRCm39)	P462S	probably benign	Het
Mast2	A	G	4: 116,167,938 (GRCm39)		probably benign	Het
Me1	T	A	9: 86,532,932 (GRCm39)	T197S	probably damaging	Het
Msr1	T	A	8: 40,072,948 (GRCm39)	Q267L	probably benign	Het
Nfic	T	C	10: 81,240,819 (GRCm39)	T328A	probably benign	Het
Nphp3	G	A	9: 103,897,940 (GRCm39)	D390N	probably benign	Het
Nr2e1	T	A	10: 42,458,905 (GRCm39)		probably null	Het
Nt5el	A	T	13: 105,218,744 (GRCm39)	Q26L	probably benign	Het
Or52e19b	T	A	7: 103,032,790 (GRCm39)	N140Y	probably benign	Het
Or5t9	T	A	2: 86,659,445 (GRCm39)	F116L	probably benign	Het
Pard6b	T	C	2: 167,929,332 (GRCm39)	L46P	probably damaging	Het
Prkaa1	T	A	15: 5,173,436 (GRCm39)	L20Q	probably damaging	Het
Rapgefl1	T	C	11: 98,736,815 (GRCm39)		probably null	Het
Recql5	T	C	11: 115,785,941 (GRCm39)	K611E	possibly damaging	Het
Rexo1	A	T	10: 80,378,413 (GRCm39)	I1180N	possibly damaging	Het
Rnf26rt	A	G	6: 76,474,397 (GRCm39)	V73A	probably benign	Het
Rph3a	T	C	5: 121,083,456 (GRCm39)	N605D	probably damaging	Het
Sema6a	A	G	18: 47,409,491 (GRCm39)	V592A	possibly damaging	Het
Skint11	A	T	4: 114,051,893 (GRCm39)	R80S	probably benign	Het
Smpdl3a	C	A	10: 57,677,118 (GRCm39)	P72H	probably damaging	Het
Sobp	T	G	10: 43,036,822 (GRCm39)	M39L	possibly damaging	Het
Sparcl1	T	A	5: 104,233,627 (GRCm39)	Y574F	probably damaging	Het
Spns3	C	T	11: 72,429,166 (GRCm39)	W206*	probably null	Het
Srf	A	G	17: 46,864,685 (GRCm39)	V190A	possibly damaging	Het
Stag1	T	G	9: 100,790,719 (GRCm39)	H742Q	probably benign	Het
Strn3	A	T	12: 51,673,986 (GRCm39)	S542T	probably benign	Het
Synpo2	T	C	3: 122,873,906 (GRCm39)	E1020G	possibly damaging	Het
Tcerg1l	T	A	7: 137,996,826 (GRCm39)	H137L	probably benign	Het
Tlr12	A	T	4: 128,511,229 (GRCm39)	D340E	probably benign	Het
Tmem130	T	A	5: 144,692,174 (GRCm39)	T77S	probably benign	Het
Tmem143	C	A	7: 45,547,037 (GRCm39)	R68S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Trem1	G	T	17: 48,548,663 (GRCm39)	G67*	probably null	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Txndc9	A	T	1: 38,033,096 (GRCm39)	H95Q	probably damaging	Het
Yju2b	C	T	8: 84,986,936 (GRCm39)	R187Q	probably damaging	Het
Zfp35	T	A	18: 24,136,986 (GRCm39)	N443K	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
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
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'- AATCGGTGGAAGCCCTGATG -3'
(R):5'- GGTTCACAGATTTCTATGTGCCTG -3'

Sequencing Primer
(F):5'- CCTGATGCGGGGGCAGG -3'
(R):5'- TGAGTGAGGGACCTTTGCCC -3'

Posted On

2014-06-23