Mutagenetix > Incidental Mutation

Incidental Mutation 'R6259:Arsa'

506576

Institutional Source

Beutler Lab

Gene Symbol

Arsa

Ensembl Gene

ENSMUSG00000022620

Gene Name

arylsulfatase A

Synonyms

ASA, As-2, AS-A, As2

MMRRC Submission

044376-MU

Accession Numbers

Essential gene?

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

Stock #

R6259 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

89356679-89361627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89359724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 68 (C68R)

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 damaging
Transcript: ENSMUST00000165199
AA Change: C68R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: C68R

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

0.8530

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	A	12: 18,584,120 (GRCm39)	N393K	probably benign	Het
Acap3	A	T	4: 155,980,575 (GRCm39)	I19F	possibly damaging	Het
Acsbg3	A	G	17: 57,184,513 (GRCm39)	Y96C	probably benign	Het
Adamts5	C	T	16: 85,696,641 (GRCm39)	R172H	probably benign	Het
Adgra3	A	G	5: 50,156,483 (GRCm39)	F416L	possibly damaging	Het
Amy1	T	C	3: 113,363,059 (GRCm39)	D96G	possibly damaging	Het
Ank2	A	G	3: 126,810,635 (GRCm39)	S484P	probably benign	Het
Asprv1	A	G	6: 86,605,361 (GRCm39)	Y69C	probably benign	Het
Ass1	A	G	2: 31,378,654 (GRCm39)	E162G	possibly damaging	Het
Atf7	G	T	15: 102,455,673 (GRCm39)	N230K	probably damaging	Het
Atp10b	A	G	11: 43,092,065 (GRCm39)	M367V	probably benign	Het
Atp11b	A	G	3: 35,861,050 (GRCm39)	Y179C	probably damaging	Het
BC004004	A	T	17: 29,517,686 (GRCm39)	Q300L	possibly damaging	Het
Bglap3	A	T	3: 88,276,067 (GRCm39)	I95N	probably damaging	Het
Cacna1h	T	C	17: 25,616,630 (GRCm39)		probably null	Het
Caskin2	C	T	11: 115,691,279 (GRCm39)	G1141D	probably damaging	Het
Clcn4	G	A	7: 7,294,529 (GRCm39)	R351W	possibly damaging	Het
Col11a1	T	C	3: 113,932,096 (GRCm39)	C89R	probably benign	Het
Csrp1	T	G	1: 135,667,252 (GRCm39)		probably null	Het
Cwf19l2	T	C	9: 3,458,879 (GRCm39)	I776T	probably damaging	Het
Cyp2b19	A	T	7: 26,470,817 (GRCm39)	Q486L	possibly damaging	Het
Cyp2j9	T	A	4: 96,472,243 (GRCm39)	Y165F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd1c	G	A	17: 57,374,104 (GRCm39)	R522C	probably damaging	Het
Dmgdh	T	C	13: 93,888,816 (GRCm39)	V818A	probably benign	Het
Dst	T	A	1: 34,221,477 (GRCm39)	V2427E	probably benign	Het
Duox1	C	T	2: 122,175,264 (GRCm39)	T1354M	probably benign	Het
Ehbp1	A	G	11: 22,235,684 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,378,866 (GRCm39)		probably null	Het
Eya2	T	C	2: 165,558,019 (GRCm39)	V205A	probably benign	Het
Fat4	A	G	3: 39,061,395 (GRCm39)	H4326R	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm10100	G	T	10: 77,562,498 (GRCm39)	C60F	possibly damaging	Het
Hhip	T	A	8: 80,699,033 (GRCm39)	R678W	probably damaging	Het
Il21r	T	A	7: 125,229,891 (GRCm39)	I266K	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kif26b	T	C	1: 178,744,970 (GRCm39)	S1689P	probably damaging	Het
L3mbtl2	A	G	15: 81,566,128 (GRCm39)	E317G	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lratd1	T	A	12: 14,200,646 (GRCm39)	D27V	probably damaging	Het
Lrr1	A	G	12: 69,221,589 (GRCm39)	N244D	probably damaging	Het
Lrrk2	A	T	15: 91,586,450 (GRCm39)	H422L	probably benign	Het
Map4k5	A	G	12: 69,899,514 (GRCm39)	S46P	probably damaging	Het
Ngf	A	G	3: 102,417,113 (GRCm39)		probably benign	Het
Nploc4	T	C	11: 120,276,691 (GRCm39)	I452V	probably benign	Het
Oas1d	T	A	5: 121,057,244 (GRCm39)	Y283*	probably null	Het
Or52h1	A	T	7: 103,829,261 (GRCm39)	M118K	possibly damaging	Het
Or56b35	A	T	7: 104,963,264 (GRCm39)	I18F	probably benign	Het
Or5b109	A	G	19: 13,211,785 (GRCm39)	H57R	probably damaging	Het
Or5l13	T	C	2: 87,779,779 (GRCm39)	N266S	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Peg3	A	G	7: 6,712,810 (GRCm39)	V804A	probably damaging	Het
Piezo2	T	A	18: 63,250,749 (GRCm39)	Y450F	possibly damaging	Het
Pprc1	T	A	19: 46,052,849 (GRCm39)	V789E	probably damaging	Het
Prcc	A	G	3: 87,769,454 (GRCm39)	M436T	possibly damaging	Het
Prepl	A	T	17: 85,377,859 (GRCm39)	V507D	probably damaging	Het
Rag1	T	A	2: 101,474,797 (GRCm39)	N115I	possibly damaging	Het
Rap1gap	T	C	4: 137,409,068 (GRCm39)		probably null	Het
Reln	A	C	5: 22,265,331 (GRCm39)	F454V	probably damaging	Het
Slc39a11	A	T	11: 113,354,780 (GRCm39)	S150T	probably benign	Het
Slc45a1	T	A	4: 150,722,817 (GRCm39)	I356F	possibly damaging	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Stkld1	A	T	2: 26,839,393 (GRCm39)	D353V	possibly damaging	Het
Susd2	T	C	10: 75,473,880 (GRCm39)	S572G	probably damaging	Het
Synrg	T	A	11: 83,899,484 (GRCm39)	D563E	probably damaging	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tnfrsf8	A	G	4: 145,004,094 (GRCm39)		probably null	Het
Trim26	C	T	17: 37,167,110 (GRCm39)	A267V	probably benign	Het
Trpm1	T	G	7: 63,918,226 (GRCm39)	F522C	possibly damaging	Het
Uggt1	T	C	1: 36,273,997 (GRCm39)	I29V	probably benign	Het
Unc5d	C	T	8: 29,156,820 (GRCm39)	M808I	probably benign	Het
Vmn2r108	T	A	17: 20,683,371 (GRCm39)	D611V	possibly damaging	Het
Vps13a	A	C	19: 16,664,534 (GRCm39)	Y1436*	probably null	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Zfp518a	G	T	19: 40,901,225 (GRCm39)	V385F	probably benign	Het
Zfp541	C	T	7: 15,829,451 (GRCm39)	A1222V	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		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
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
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'- ACATGCCTGATCGAACTGG -3'
(R):5'- TATCTCTGTCATGGCCCTGG -3'

Sequencing Primer
(F):5'- TGATCGAACTGGGAGCCG -3'
(R):5'- GGACCCTCTTTTTGGCATTGGC -3'

Posted On

2018-03-15