Mutagenetix > Incidental Mutation

Incidental Mutation 'R7084:Arsb'

549780

Institutional Source

Beutler Lab

Gene Symbol

Arsb

Ensembl Gene

ENSMUSG00000042082

Gene Name

arylsulfatase B

Synonyms

As-1r, As1-s, As-1s, 1110007C02Rik, Asr-1, Ast-1, As1-r, As1-t, As1, As-1t, As-1

MMRRC Submission

045178-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

R7084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93908187-94079524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94077124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 497 (Q497L)

Ref Sequence

ENSEMBL: ENSMUSP00000088964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091403]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091403
AA Change: Q497L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088964
Gene: ENSMUSG00000042082
AA Change: Q497L

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
Pfam:Sulfatase	46	364	1.7e-78	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous mutation of this gene results in development of shortened limbs and snout and a broadened head after 4 weeks of age. Mutant animals have elevated concentrations of glucosaminoglycans in the urine and irregular cartilage structure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,624,721 (GRCm39)	D8E	unknown	Het
Abca5	T	A	11: 110,192,371 (GRCm39)	I714L	probably benign	Het
Abce1	T	A	8: 80,426,043 (GRCm39)	S245C	probably benign	Het
Abcg1	T	A	17: 31,325,105 (GRCm39)	D310E	probably benign	Het
Adhfe1	T	A	1: 9,637,030 (GRCm39)	I394N	probably benign	Het
Apob	A	T	12: 8,059,591 (GRCm39)	D2691V	probably benign	Het
Arhgap18	A	G	10: 26,748,734 (GRCm39)	T340A	possibly damaging	Het
Asic5	T	C	3: 81,919,318 (GRCm39)	I354T	probably benign	Het
Atp6v0a1	T	C	11: 100,924,868 (GRCm39)	C318R	probably damaging	Het
Cftr	T	C	6: 18,226,137 (GRCm39)	Y362H	probably benign	Het
Crip3	T	C	17: 46,741,716 (GRCm39)	Y113H	probably benign	Het
Dcaf4	AT	A	12: 83,584,571 (GRCm39)		probably null	Het
Dock10	T	A	1: 80,481,573 (GRCm39)	I475F		Het
Dqx1	T	A	6: 83,043,436 (GRCm39)	Y674N	probably damaging	Het
Dync2h1	G	T	9: 7,113,214 (GRCm39)	Q2437K	possibly damaging	Het
Ednra	A	T	8: 78,391,734 (GRCm39)	C385*	probably null	Het
Fam216a	G	A	5: 122,507,623 (GRCm39)	T68I	probably benign	Het
Fbxw22	A	G	9: 109,233,291 (GRCm39)	L14P	probably damaging	Het
Fem1al	G	T	11: 29,775,009 (GRCm39)	H149Q	probably damaging	Het
Fkbp10	A	G	11: 100,312,129 (GRCm39)	I230V	possibly damaging	Het
Ggn	C	A	7: 28,872,423 (GRCm39)	A637E	probably damaging	Het
Hcrtr2	T	C	9: 76,137,942 (GRCm39)	D391G	probably benign	Het
Heatr5b	A	T	17: 79,117,992 (GRCm39)	V817D	possibly damaging	Het
Il1f10	G	A	2: 24,183,682 (GRCm39)	W120*	probably null	Het
Irf5	C	A	6: 29,535,876 (GRCm39)	R297S	probably damaging	Het
Jak2	A	G	19: 29,263,798 (GRCm39)	T438A	possibly damaging	Het
Jsrp1	T	C	10: 80,644,410 (GRCm39)	D332G	possibly damaging	Het
Kank4	A	T	4: 98,659,582 (GRCm39)	V832D	probably damaging	Het
Kcnip3	C	T	2: 127,352,856 (GRCm39)	S25N	probably benign	Het
Klk1b16	C	T	7: 43,788,910 (GRCm39)	H48Y	probably benign	Het
Klrh1	C	A	6: 129,743,673 (GRCm39)	A204S	possibly damaging	Het
Krtap5-4	G	A	7: 141,857,609 (GRCm39)	C93Y	unknown	Het
Lacc1	T	A	14: 77,267,096 (GRCm39)	Q389L	probably benign	Het
Lin9	C	A	1: 180,515,661 (GRCm39)	T477K	probably benign	Het
Lpar2	A	T	8: 70,276,256 (GRCm39)	N15I	probably damaging	Het
Ltbp2	C	A	12: 84,915,459 (GRCm39)	C200F	probably damaging	Het
Mall	G	T	2: 127,550,793 (GRCm39)	H122Q	probably benign	Het
Mast3	T	C	8: 71,232,117 (GRCm39)	I1287V	probably benign	Het
Mindy4	T	C	6: 55,255,220 (GRCm39)	I566T	probably benign	Het
Mme	T	C	3: 63,235,638 (GRCm39)	Y195H	probably damaging	Het
Mpzl1	T	C	1: 165,432,267 (GRCm39)	T173A	probably benign	Het
Mri1	G	T	8: 84,977,708 (GRCm39)	T209N		Het
Myo1e	A	G	9: 70,245,083 (GRCm39)	I394V	probably damaging	Het
Nat14	T	C	7: 4,927,329 (GRCm39)	V167A	possibly damaging	Het
Nfasc	A	G	1: 132,498,247 (GRCm39)	Y1212H	unknown	Het
Nsun7	T	A	5: 66,452,764 (GRCm39)	L493Q	probably damaging	Het
Obsl1	A	T	1: 75,464,394 (GRCm39)	S1637R	probably benign	Het
Ocstamp	A	T	2: 165,239,957 (GRCm39)	Y76*	probably null	Het
Or5b95	A	C	19: 12,658,198 (GRCm39)	H242P	probably damaging	Het
Or6c2b	T	A	10: 128,947,416 (GRCm39)	K293*	probably null	Het
Or8b52	G	A	9: 38,576,565 (GRCm39)	R192C	probably benign	Het
Otog	T	A	7: 45,947,990 (GRCm39)	C145*	probably null	Het
Padi6	T	A	4: 140,468,869 (GRCm39)	K5*	probably null	Het
Pcdha5	T	A	18: 37,094,615 (GRCm39)	S375T	probably benign	Het
Pde10a	C	T	17: 9,159,994 (GRCm39)	P140S	probably benign	Het
Pgbd1	C	G	13: 21,607,300 (GRCm39)	C298S	possibly damaging	Het
Plch2	C	T	4: 155,071,448 (GRCm39)	G977D	probably benign	Het
Pou2f3	T	C	9: 43,040,188 (GRCm39)	T367A	probably damaging	Het
Ppm1j	T	A	3: 104,692,276 (GRCm39)	Y352N	probably damaging	Het
Prkag2	T	C	5: 25,226,967 (GRCm39)	T97A	probably benign	Het
Rpl36a-ps1	T	A	14: 99,231,660 (GRCm39)	Y26F	probably benign	Het
Sctr	A	T	1: 119,991,001 (GRCm39)	N445Y	possibly damaging	Het
Serping1	C	T	2: 84,603,835 (GRCm39)	V69I	probably benign	Het
Slc8a2	T	A	7: 15,878,963 (GRCm39)	L483Q	probably benign	Het
Spag17	T	C	3: 99,846,586 (GRCm39)	F37L	probably benign	Het
Srrm2	T	A	17: 24,039,290 (GRCm39)	M1978K	probably damaging	Het
Tcp11	T	C	17: 28,285,995 (GRCm39)	Q540R	probably benign	Het
Thnsl1	G	T	2: 21,217,141 (GRCm39)	R298S	possibly damaging	Het
Tigd5	T	A	15: 75,782,230 (GRCm39)	Y197*	probably null	Het
Tmprss11g	A	T	5: 86,640,059 (GRCm39)	L203Q	probably damaging	Het
Trim35	T	A	14: 66,546,271 (GRCm39)	V346E	probably damaging	Het
Ttn	T	C	2: 76,598,708 (GRCm39)	I19402V	possibly damaging	Het
Ttn	C	T	2: 76,749,689 (GRCm39)	E3787K	probably benign	Het
Tut1	G	A	19: 8,942,778 (GRCm39)	V622I	probably benign	Het
Vmn1r2	A	G	4: 3,172,134 (GRCm39)	I18V	probably benign	Het
Zbbx	T	C	3: 75,046,853 (GRCm39)	N22S	possibly damaging	Het
Zfp169	A	C	13: 48,652,339 (GRCm39)	M26R	probably benign	Het
Zfp180	T	A	7: 23,804,686 (GRCm39)	H368Q	probably damaging	Het
Zfp638	T	A	6: 83,930,108 (GRCm39)	S770T	possibly damaging	Het
Znrf1	T	C	8: 112,263,774 (GRCm39)	M1T	probably null	Het

Other mutations in Arsb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Arsb	APN	13	93,926,608 (GRCm39)	missense	probably benign	0.07
IGL00334:Arsb	APN	13	94,075,787 (GRCm39)	missense	probably benign	0.01
IGL01560:Arsb	APN	13	93,944,106 (GRCm39)	missense	probably benign	0.01
IGL02408:Arsb	APN	13	93,930,670 (GRCm39)	missense	probably benign	0.19
IGL03396:Arsb	APN	13	94,075,825 (GRCm39)	missense	probably benign	0.01
dipper	UTSW	13	93,926,574 (GRCm39)	missense	possibly damaging	0.95
ouzel	UTSW	13	93,930,728 (GRCm39)	critical splice donor site	probably null
rivulet	UTSW	13	93,998,835 (GRCm39)	missense	probably damaging	1.00
R0145:Arsb	UTSW	13	93,998,795 (GRCm39)	missense	possibly damaging	0.60
R0379:Arsb	UTSW	13	94,077,135 (GRCm39)	missense	probably benign	0.20
R0488:Arsb	UTSW	13	94,077,013 (GRCm39)	missense	probably benign
R0560:Arsb	UTSW	13	93,926,706 (GRCm39)	missense	possibly damaging	0.66
R1938:Arsb	UTSW	13	93,998,658 (GRCm39)	missense	probably damaging	1.00
R1968:Arsb	UTSW	13	93,944,067 (GRCm39)	missense	probably benign	0.00
R2209:Arsb	UTSW	13	93,998,609 (GRCm39)	missense	probably benign	0.14
R2224:Arsb	UTSW	13	93,930,679 (GRCm39)	missense	probably damaging	1.00
R2520:Arsb	UTSW	13	94,077,207 (GRCm39)	nonsense	probably null
R4476:Arsb	UTSW	13	93,944,103 (GRCm39)	missense	probably damaging	1.00
R4910:Arsb	UTSW	13	93,908,485 (GRCm39)	missense	probably benign
R5153:Arsb	UTSW	13	94,077,106 (GRCm39)	missense	probably benign	0.20
R5185:Arsb	UTSW	13	93,930,667 (GRCm39)	missense	probably damaging	1.00
R5272:Arsb	UTSW	13	93,930,670 (GRCm39)	missense	possibly damaging	0.86
R5475:Arsb	UTSW	13	93,998,773 (GRCm39)	missense	probably benign	0.00
R5580:Arsb	UTSW	13	93,944,053 (GRCm39)	missense	probably damaging	1.00
R6371:Arsb	UTSW	13	93,926,574 (GRCm39)	missense	possibly damaging	0.95
R6668:Arsb	UTSW	13	93,930,728 (GRCm39)	critical splice donor site	probably null
R7735:Arsb	UTSW	13	93,908,491 (GRCm39)	missense	probably benign	0.00
R7801:Arsb	UTSW	13	93,998,835 (GRCm39)	missense	probably damaging	1.00
R7859:Arsb	UTSW	13	93,998,615 (GRCm39)	missense	probably benign	0.03
R8951:Arsb	UTSW	13	93,944,124 (GRCm39)	missense	probably damaging	1.00
X0010:Arsb	UTSW	13	93,930,710 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCTTGTACCCAGATTCCTG -3'
(R):5'- TTATGTAGCATGAGGGCCAGG -3'

Sequencing Primer
(F):5'- CCTTGTACCCAGATTCCTGAAATTAG -3'
(R):5'- CATGAGGGCCAGGTGACAG -3'

Posted On

2019-05-15