Mutagenetix > Incidental Mutation

Incidental Mutation 'R2209:Arsb'

239281

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

040211-MU

Accession Numbers

Essential gene?

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

Stock #

R2209 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93908187-94079524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93998609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 306 (T306A)

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: T306A

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000088964
Gene: ENSMUSG00000042082
AA Change: T306A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220652

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,884,227 (GRCm39)	E330G	possibly damaging	Het
Apob	A	C	12: 8,057,752 (GRCm39)	D2078A	probably benign	Het
Arhgap21	T	A	2: 20,854,331 (GRCm39)	Q1681L	probably damaging	Het
Brpf3	G	A	17: 29,047,394 (GRCm39)	D1053N	probably damaging	Het
Cenpf	A	T	1: 189,384,795 (GRCm39)	I2495N	probably benign	Het
Col12a1	T	C	9: 79,599,634 (GRCm39)	K840E	possibly damaging	Het
Cry1	A	G	10: 84,982,619 (GRCm39)	L269P	probably damaging	Het
Cyp21a1	C	A	17: 35,021,701 (GRCm39)	E289*	probably null	Het
Dcp2	A	T	18: 44,538,581 (GRCm39)	K215*	probably null	Het
Dnaaf11	A	G	15: 66,321,400 (GRCm39)	I247T	probably benign	Het
Ecm2	A	G	13: 49,683,632 (GRCm39)	N537D	probably damaging	Het
Emid1	G	A	11: 5,085,407 (GRCm39)	T113M	probably benign	Het
Exoc8	C	T	8: 125,622,918 (GRCm39)	W483*	probably null	Het
Fes	A	T	7: 80,030,031 (GRCm39)	N582K	probably damaging	Het
Flnb	G	T	14: 7,905,507 (GRCm38)	E1086*	probably null	Het
Flnc	T	A	6: 29,455,844 (GRCm39)	D2058E	possibly damaging	Het
Gatb	G	A	3: 85,561,112 (GRCm39)	D543N	probably benign	Het
Gm14412	A	G	2: 177,009,229 (GRCm39)	V9A	probably damaging	Het
Gm4884	T	C	7: 40,692,745 (GRCm39)	V238A	possibly damaging	Het
Igfbp5	A	G	1: 72,913,096 (GRCm39)	V68A	possibly damaging	Het
Igflr1	T	A	7: 30,267,222 (GRCm39)	I330N	probably damaging	Het
Il1r2	A	G	1: 40,154,298 (GRCm39)	T222A	probably benign	Het
Krt87	T	C	15: 101,330,989 (GRCm39)	E419G	probably benign	Het
Lman2	A	G	13: 55,499,315 (GRCm39)	S187P	probably damaging	Het
Mrpl38	T	C	11: 116,029,288 (GRCm39)	E76G	possibly damaging	Het
Mtx3	A	G	13: 92,984,112 (GRCm39)	I130V	probably benign	Het
Naf1	T	G	8: 67,313,188 (GRCm39)		probably benign	Het
Nkx2-1	T	G	12: 56,580,293 (GRCm39)	M216L	probably benign	Het
Notch1	C	A	2: 26,350,019 (GRCm39)	V2374L	probably benign	Het
Nrxn2	A	G	19: 6,543,037 (GRCm39)	D1087G	probably benign	Het
Nudt8	T	C	19: 4,051,902 (GRCm39)	F171S	probably damaging	Het
Or5an1	T	G	19: 12,261,224 (GRCm39)	F271V	probably benign	Het
Pds5a	A	T	5: 65,785,357 (GRCm39)	C916*	probably null	Het
Phyhip	A	T	14: 70,699,334 (GRCm39)	N46Y	probably damaging	Het
Pomt1	A	G	2: 32,140,874 (GRCm39)	Y502C	possibly damaging	Het
Prkcg	A	C	7: 3,352,097 (GRCm39)		probably benign	Het
Prl8a6	C	T	13: 27,619,369 (GRCm39)	E118K	probably benign	Het
Prpf39	T	C	12: 65,104,689 (GRCm39)		probably null	Het
Ptprb	A	G	10: 116,205,262 (GRCm39)	H2159R	probably damaging	Het
Ripor2	A	T	13: 24,885,595 (GRCm39)	D571V	probably damaging	Het
Rps19	C	T	7: 24,584,552 (GRCm39)	L34F	probably benign	Het
Rusc1	A	G	3: 88,996,128 (GRCm39)	S145P	probably damaging	Het
Scn4a	T	A	11: 106,230,051 (GRCm39)	T586S	probably damaging	Het
Slc7a12	A	G	3: 14,546,124 (GRCm39)	S90G	possibly damaging	Het
Specc1l	A	G	10: 75,082,410 (GRCm39)	D619G	probably damaging	Het
Src	A	G	2: 157,304,710 (GRCm39)	D143G	probably benign	Het
Sst	T	C	16: 23,708,558 (GRCm39)	N91S	probably benign	Het
Stxbp5l	T	A	16: 37,036,398 (GRCm39)	I406F	probably damaging	Het
Thsd1	T	A	8: 22,748,887 (GRCm39)	I525N	probably damaging	Het
Ticam2	A	T	18: 46,693,467 (GRCm39)	F207I	probably damaging	Het
Tsc22d1	C	A	14: 76,656,180 (GRCm39)	N31K	probably damaging	Het
Tspan10	T	C	11: 120,336,989 (GRCm39)	V253A	probably benign	Het
Ttc33	A	G	15: 5,237,924 (GRCm39)	K99R	possibly damaging	Het
Vmn1r63	T	A	7: 5,806,212 (GRCm39)	N140I	probably damaging	Het
Yju2b	C	T	8: 84,990,498 (GRCm39)	V45I	probably benign	Het
Zbtb25	A	G	12: 76,395,903 (GRCm39)	*440Q	probably null	Het
Zfhx4	T	A	3: 5,461,978 (GRCm39)	C1218S	probably damaging	Het
Zfp84	T	A	7: 29,476,607 (GRCm39)	I433N	probably damaging	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
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
R7084:Arsb	UTSW	13	94,077,124 (GRCm39)	missense	probably benign	0.00
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'- GTAAAGTCCTCTGAGCTCGTTC -3'
(R):5'- CCACATGTTGAAGCCATCCAG -3'

Sequencing Primer
(F):5'- GAGCTCGTTCTCATCAAATGG -3'
(R):5'- AAGCCATCCAGAGGTTTGGTTCC -3'

Posted On

2014-10-15