Mutagenetix > Incidental Mutations

Incidental Mutation 'R4826:Arsj'

374128

Institutional Source

Beutler Lab

Gene Symbol

Arsj

Ensembl Gene

ENSMUSG00000046561

Gene Name

arylsulfatase J

Synonyms

9330196J05Rik

MMRRC Submission

042442-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126363684-126440375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126438802 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 399 (Y399C)

Ref Sequence

ENSEMBL: ENSMUSP00000091511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093976]

Predicted Effect

probably damaging
Transcript: ENSMUST00000093976
AA Change: Y399C

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

SMART Domains

Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: Y399C

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	74	388	8.4e-68	PFAM
low complexity region	554	582	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199285

Meta Mutation Damage Score

0.102

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	T	18: 12,185,779		probably benign	Het
Abca14	A	T	7: 120,216,247	R239S	probably damaging	Het
Acin1	A	G	14: 54,664,617	S573P	probably damaging	Het
Acta2	A	T	19: 34,251,823	Y55*	probably null	Het
Aifm2	T	C	10: 61,725,989	M38T	probably benign	Het
Ank2	C	A	3: 126,956,001	V460L	probably benign	Het
Ap1b1	T	C	11: 5,018,043	S185P	probably benign	Het
Clec2d	T	C	6: 129,184,159	V73A	probably benign	Het
Cntln	T	G	4: 85,005,044	M582R	probably benign	Het
Cyp4a10	C	T	4: 115,518,344	P8L	probably benign	Het
Dip2b	A	G	15: 100,169,281	N555D	probably damaging	Het
Dusp4	T	A	8: 34,818,517	F311I	probably damaging	Het
Eif4g3	T	C	4: 138,177,945	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,214,995	R23H	possibly damaging	Het
Ext2	T	C	2: 93,762,630	T410A	probably benign	Het
Fam193a	A	G	5: 34,436,531	E124G	probably damaging	Het
Fat4	T	A	3: 38,982,957	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,601,297	S611P	probably damaging	Het
Gcn1l1	A	G	5: 115,593,693	T956A	probably benign	Het
Gm10549	C	A	18: 33,470,785	T107K	unknown	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Herc6	T	A	6: 57,647,087	M614K	probably benign	Het
Hspg2	T	C	4: 137,565,395	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,576	I463T	possibly damaging	Het
Icam5	C	T	9: 21,037,803	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,701,353	D1366E	probably damaging	Het
Ints7	G	A	1: 191,611,906	V553I	probably damaging	Het
Iqgap2	T	A	13: 95,763,275	I92F	probably damaging	Het
Itgb1	T	A	8: 128,720,308	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,743,308	M216V	probably benign	Het
Mgam	T	C	6: 40,680,648	V979A	possibly damaging	Het
Myh9	A	T	15: 77,788,946	Y400*	probably null	Het
Narfl	A	G	17: 25,780,332	H240R	probably damaging	Het
Nbeal1	A	G	1: 60,251,342	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,345,598		probably benign	Het
Nlrp1c-ps	A	G	11: 71,242,517		noncoding transcript	Het
Nt5c1a	T	C	4: 123,208,572	V97A	probably damaging	Het
Olfr1154	T	A	2: 87,903,349	D109V	probably damaging	Het
Olfr358	A	G	2: 37,005,333	Y94H	probably damaging	Het
Olfr43	A	G	11: 74,206,331	M295T	possibly damaging	Het
Olfr46	T	A	7: 140,610,319	M51K	probably benign	Het
Olfr683	G	T	7: 105,143,968	N108K	probably damaging	Het
Pde4a	T	A	9: 21,192,380		probably null	Het
Pkn2	T	C	3: 142,809,509	K640R	probably damaging	Het
Pla2g6	A	G	15: 79,308,679	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,764,606	S73P	possibly damaging	Het
Prr27	A	C	5: 87,850,966		probably benign	Het
Rad54b	G	T	4: 11,599,753	W319L	probably damaging	Het
Rassf8	T	A	6: 145,816,550	L349H	probably damaging	Het
Rnf113a2	T	A	12: 84,417,614	N93K	probably benign	Het
Sapcd2	C	T	2: 25,372,756	A109V	probably benign	Het
Slamf9	C	A	1: 172,476,441	H118N	probably benign	Het
Slc37a1	A	G	17: 31,322,173	Y213C	probably damaging	Het
Slc5a1	A	G	5: 33,159,150	D580G	probably benign	Het
Slc7a2	T	A	8: 40,911,046	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,689,837	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,535,115	P391L	unknown	Het
Tdrd12	A	C	7: 35,504,157	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,380,773	L246S	probably benign	Het

Other mutations in Arsj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Arsj	APN	3	126364945	missense	probably benign	0.00
IGL01150:Arsj	APN	3	126438784	missense	probably benign
IGL01337:Arsj	APN	3	126365114	missense	probably damaging	1.00
IGL01446:Arsj	APN	3	126438814	missense	probably benign	0.01
IGL01484:Arsj	APN	3	126365036	missense	probably damaging	1.00
IGL02479:Arsj	APN	3	126438939	missense	possibly damaging	0.91
IGL03149:Arsj	APN	3	126439404	utr 3 prime	probably benign
R0552:Arsj	UTSW	3	126439344	missense	probably benign	0.01
R0690:Arsj	UTSW	3	126438184	missense	probably damaging	0.99
R1809:Arsj	UTSW	3	126438295	missense	possibly damaging	0.87
R1881:Arsj	UTSW	3	126438837	missense	probably damaging	1.00
R1940:Arsj	UTSW	3	126438346	missense	probably damaging	1.00
R1957:Arsj	UTSW	3	126439021	missense	probably benign	0.08
R2156:Arsj	UTSW	3	126438688	missense	probably damaging	1.00
R2969:Arsj	UTSW	3	126439372	missense	probably benign	0.01
R3432:Arsj	UTSW	3	126364975	missense	probably benign	0.00
R4623:Arsj	UTSW	3	126364796	missense	probably benign	0.00
R4955:Arsj	UTSW	3	126438540	missense	probably benign	0.15
R5134:Arsj	UTSW	3	126438154	missense	probably benign
R5164:Arsj	UTSW	3	126438159	missense	probably benign	0.00
R5468:Arsj	UTSW	3	126438388	missense	possibly damaging	0.52
R5664:Arsj	UTSW	3	126438657	missense	probably damaging	1.00
R6136:Arsj	UTSW	3	126364775	start codon destroyed	probably null	0.07
X0022:Arsj	UTSW	3	126364966	missense	possibly damaging	0.52
Z1088:Arsj	UTSW	3	126439132	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCAGATAATGGTGGGCAGCC -3'
(R):5'- TGCCTGTGAGCAGTTTCCAG -3'

Sequencing Primer
(F):5'- GTAACTGGCCACTCAGAGG -3'
(R):5'- GAGCAGTTTCCAGTGTTGTACCC -3'

Posted On

2016-03-01