Mutagenetix > Incidental Mutation

Incidental Mutation 'R2520:Arsb'

254408

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

040424-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R2520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93908187-94079524 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 94077207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 525 (K525*)

Ref Sequence

ENSEMBL: ENSMUSP00000088964 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000091403
AA Change: K525*

SMART Domains

Protein: ENSMUSP00000088964
Gene: ENSMUSG00000042082
AA Change: K525*

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: ENSMUST00000180416

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	T	5: 3,625,773 (GRCm39)	N70I	probably damaging	Het
4930503B20Rik	G	A	3: 146,356,261 (GRCm39)	R216W	probably damaging	Het
Abcb9	C	T	5: 124,218,091 (GRCm39)		probably null	Het
Arhgdia	A	T	11: 120,470,852 (GRCm39)	V72E	probably damaging	Het
Bckdha	A	C	7: 25,341,124 (GRCm39)	I79S	probably benign	Het
Carm1	G	A	9: 21,494,893 (GRCm39)		probably null	Het
Cers5	G	A	15: 99,634,262 (GRCm39)	T362I	probably damaging	Het
Clec4b2	T	A	6: 123,177,942 (GRCm39)	F86I	probably damaging	Het
Crispld1	G	A	1: 17,821,000 (GRCm39)	D347N	probably damaging	Het
Csf3r	A	T	4: 125,929,145 (GRCm39)	T352S	probably benign	Het
Daam2	G	A	17: 49,787,785 (GRCm39)	Q443*	probably null	Het
Dcbld1	A	G	10: 52,195,641 (GRCm39)	D283G	probably damaging	Het
Dpp9	T	C	17: 56,513,868 (GRCm39)	E82G	probably damaging	Het
Dync1li1	A	G	9: 114,518,074 (GRCm39)	D42G	probably null	Het
Eml6	T	C	11: 29,741,993 (GRCm39)	H1130R	probably damaging	Het
Enox1	A	T	14: 77,819,839 (GRCm39)	Y198F	probably damaging	Het
Epop	A	G	11: 97,519,554 (GRCm39)	L185P	probably benign	Het
Frem1	A	T	4: 82,868,527 (GRCm39)	C1485S	probably damaging	Het
Gbf1	T	A	19: 46,253,806 (GRCm39)	S571T	probably benign	Het
Gm5965	A	T	16: 88,575,414 (GRCm39)	I196F	probably null	Het
Gm8237	T	A	14: 5,863,642 (GRCm38)	I8L	possibly damaging	Het
Gria2	A	C	3: 80,614,269 (GRCm39)	N590K	probably damaging	Het
Hectd2	T	A	19: 36,589,633 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,619,398 (GRCm39)	T1239S	possibly damaging	Het
Hps3	A	T	3: 20,083,194 (GRCm39)	D167E	probably damaging	Het
Htr1a	A	G	13: 105,581,881 (GRCm39)	S374G	probably benign	Het
Il16	C	T	7: 83,301,202 (GRCm39)	G307S	probably benign	Het
Ipmk	T	C	10: 71,217,047 (GRCm39)	F198S	probably damaging	Het
Lyz2	T	A	10: 117,114,558 (GRCm39)	I124F	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgpra1	A	T	7: 46,985,020 (GRCm39)	C220S	possibly damaging	Het
Myo5c	A	T	9: 75,204,931 (GRCm39)	K1595*	probably null	Het
Naga	G	T	15: 82,214,295 (GRCm39)	D405E	probably benign	Het
Nanog	T	A	6: 122,690,418 (GRCm39)	N249K	probably benign	Het
Nhlh1	G	T	1: 171,881,570 (GRCm39)	R99S	probably damaging	Het
Ntrk2	T	A	13: 59,202,090 (GRCm39)		probably null	Het
Nudt2	A	G	4: 41,480,354 (GRCm39)	E79G	probably benign	Het
Or2ad1	A	T	13: 21,326,746 (GRCm39)	C160*	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52n2	T	A	7: 104,542,080 (GRCm39)	I252F	probably benign	Het
Pitpnm2	T	C	5: 124,267,464 (GRCm39)	D592G	probably damaging	Het
Prps1l3	T	C	12: 57,285,369 (GRCm39)	V53A	probably damaging	Het
Psmd2	T	G	16: 20,481,826 (GRCm39)	V853G	probably damaging	Het
Pycard	A	G	7: 127,592,677 (GRCm39)	I50T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf168	T	A	16: 32,097,221 (GRCm39)	S99T	probably benign	Het
Rph3al	A	G	11: 75,797,373 (GRCm39)	S108P	possibly damaging	Het
Sdk1	G	A	5: 142,071,526 (GRCm39)	A979T	probably benign	Het
Sec16a	G	A	2: 26,331,368 (GRCm39)	Q216*	probably null	Het
Slc35f3	T	A	8: 127,121,312 (GRCm39)	V391E	possibly damaging	Het
Slf1	T	A	13: 77,199,384 (GRCm39)	I666F	probably damaging	Het
Slfn14	A	G	11: 83,167,013 (GRCm39)	V834A	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tbc1d10b	A	G	7: 126,799,455 (GRCm39)		probably null	Het
Tmeff1	T	A	4: 48,604,679 (GRCm39)	C91S	probably damaging	Het
Tmem108	G	T	9: 103,366,481 (GRCm39)	N503K	possibly damaging	Het
Trbv28	A	G	6: 41,248,541 (GRCm39)	T24A	probably damaging	Het
Trim34b	A	G	7: 103,980,446 (GRCm39)	E178G	probably damaging	Het
Trmt1l	T	A	1: 151,329,696 (GRCm39)	H546Q	probably benign	Het
Ttc39d	A	G	17: 80,523,799 (GRCm39)	I153V	probably benign	Het
Ttll13	T	C	7: 79,899,964 (GRCm39)	V101A	probably damaging	Het
Ubash3b	A	T	9: 40,926,243 (GRCm39)	H501Q	probably damaging	Het
Upf3a	T	A	8: 13,846,443 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,352,562 (GRCm39)	S94G	probably benign	Het
Wdr86	T	C	5: 24,917,573 (GRCm39)	*381W	probably null	Het
Wdr90	G	A	17: 26,074,326 (GRCm39)	P680S	probably damaging	Het
Zbtb22	G	A	17: 34,135,956 (GRCm39)	V34M	probably damaging	Het
Zbtb8a	A	G	4: 129,253,689 (GRCm39)		probably null	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp512b	A	G	2: 181,231,295 (GRCm39)	V295A	probably damaging	Het
Zfp608	A	T	18: 55,121,578 (GRCm39)	V3E	possibly damaging	Het
Zfp748	G	T	13: 67,694,781 (GRCm39)	D32E	possibly 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
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
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'- GTCTCAGTCCAACGTCTCTGAG -3'
(R):5'- AATGTACTGTGGGTTGAAATTGGAC -3'

Sequencing Primer
(F):5'- TCTGAGATACCTCCAGTGGAC -3'
(R):5'- AAATTGGACTCCTTTGGTGGG -3'

Posted On

2014-12-04