Mutagenetix > Incidental Mutation

Incidental Mutation 'R1052:Arsa'

94082

Institutional Source

Beutler Lab

Gene Symbol

Arsa

Ensembl Gene

ENSMUSG00000022620

Gene Name

arylsulfatase A

Synonyms

ASA, As-2, AS-A, As2

MMRRC Submission

039142-MU

Accession Numbers

Essential gene?

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

Stock #

R1052 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89356679-89361627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89359380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 134 (L134Q)

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: L134Q

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

SMART Domains

Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: L134Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,535,417 (GRCm39)	Y528F	possibly damaging	Het
Acad10	G	A	5: 121,787,604 (GRCm39)	T115I	possibly damaging	Het
Adam19	T	C	11: 46,018,092 (GRCm39)	F385L	probably damaging	Het
Adgb	T	C	10: 10,318,357 (GRCm39)	N162D	probably benign	Het
Arhgap20	C	A	9: 51,757,570 (GRCm39)	P521T	probably damaging	Het
Atp5f1b	A	G	10: 127,925,921 (GRCm39)	Y508C	probably damaging	Het
AW554918	G	A	18: 25,553,067 (GRCm39)	M287I	probably benign	Het
Bmp4	T	C	14: 46,621,360 (GRCm39)	K395E	probably damaging	Het
Cacna2d4	A	G	6: 119,277,294 (GRCm39)	Y669C	probably damaging	Het
Casq2	T	C	3: 102,051,550 (GRCm39)		probably null	Het
Cdk5rap1	A	T	2: 154,202,519 (GRCm39)	I237N	possibly damaging	Het
Cerk	G	C	15: 86,033,565 (GRCm39)	S286C	possibly damaging	Het
Cir1	A	C	2: 73,117,987 (GRCm39)	L186R	probably damaging	Het
Csf3r	A	T	4: 125,936,781 (GRCm39)		probably null	Het
Cyp3a41a	A	T	5: 145,642,621 (GRCm39)	I246K	possibly damaging	Het
Cyp8b1	A	G	9: 121,744,348 (GRCm39)	F328S	possibly damaging	Het
Dzank1	A	T	2: 144,355,365 (GRCm39)	V110D	probably benign	Het
Gm6729	T	A	10: 86,376,799 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,604,246 (GRCm39)	F246L	probably benign	Het
Gnpat	T	A	8: 125,605,255 (GRCm39)	L248H	probably damaging	Het
Gstm7	T	C	3: 107,834,266 (GRCm39)	T163A	probably benign	Het
Hspa5	A	G	2: 34,665,110 (GRCm39)	T424A	probably damaging	Het
Itgb1	T	G	8: 129,439,786 (GRCm39)	D158E	probably damaging	Het
Kif21a	A	G	15: 90,819,853 (GRCm39)	V1637A	probably benign	Het
Kl	G	T	5: 150,905,985 (GRCm39)	V452F	probably damaging	Het
Krt23	T	C	11: 99,369,045 (GRCm39)	N416S	probably benign	Het
Lama4	A	T	10: 38,968,241 (GRCm39)	H1461L	possibly damaging	Het
Lamc3	A	G	2: 31,818,814 (GRCm39)	T1180A	probably benign	Het
Mboat2	T	C	12: 24,996,527 (GRCm39)	Y145H	probably damaging	Het
Mlxipl	T	A	5: 135,142,564 (GRCm39)	I126N	probably damaging	Het
Myo16	T	A	8: 10,620,181 (GRCm39)	N1577K	possibly damaging	Het
Nlrp4f	A	G	13: 65,332,897 (GRCm39)	V87A	possibly damaging	Het
Or5al5	A	G	2: 85,961,915 (GRCm39)	F31L	probably benign	Het
Or6p1	A	T	1: 174,258,701 (GRCm39)	K236*	probably null	Het
Pask	A	T	1: 93,258,549 (GRCm39)	D266E	probably benign	Het
Pcdhb17	A	G	18: 37,619,899 (GRCm39)	Y563C	probably damaging	Het
Pdlim3	T	A	8: 46,349,837 (GRCm39)	I49N	probably damaging	Het
Pla2g4c	T	A	7: 13,077,334 (GRCm39)	V292E	possibly damaging	Het
Pramel23	T	C	4: 143,423,477 (GRCm39)	I437M	possibly damaging	Het
Prrt4	G	T	6: 29,169,813 (GRCm39)	Q880K	possibly damaging	Het
Pygb	A	G	2: 150,628,858 (GRCm39)	D24G	probably benign	Het
R3hcc1l	T	A	19: 42,552,093 (GRCm39)	D363E	probably damaging	Het
Rif1	A	C	2: 52,001,574 (GRCm39)	Q1676P	probably benign	Het
Ryr1	C	A	7: 28,795,683 (GRCm39)	R1069L	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc2a13	A	G	15: 91,296,363 (GRCm39)	V317A	probably damaging	Het
Slc35b4	A	T	6: 34,138,619 (GRCm39)	F197I	probably damaging	Het
Tchhl1	G	A	3: 93,377,520 (GRCm39)	V75I	probably benign	Het
Ubr4	T	C	4: 139,182,771 (GRCm39)	S3521P	possibly damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp335	GTCCTCCTCCTCCTCCTC	GTCCTCCTCCTCCTC	2: 164,749,388 (GRCm39)		probably benign	Het
Zfp874a	T	G	13: 67,590,539 (GRCm39)	I382L	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TCCATCAAGGAGTCCCCAAATGGC -3'
(R):5'- TCCCAGTTCGATCAGGCATGTACC -3'

Sequencing Primer
(F):5'- AGCACGTTAGGTTCTGACAG -3'
(R):5'- ATCAGGCATGTACCCTGGAG -3'

Posted On

2014-01-05