Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Arsj'

411048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arsj

Ensembl Gene

ENSMUSG00000046561

Gene Name

arylsulfatase J

Synonyms

9330196J05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

126157566-126234025 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 126233053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091511 (fasta)

Gene Model

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

AlphaFold

Q8BM89

Predicted Effect

probably benign
Transcript: ENSMUST00000093976

SMART Domains

Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561

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

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 78,136,167 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,008,085 (GRCm39)	I546T	possibly damaging	Het
Ash2l	A	G	8: 26,308,650 (GRCm39)	V543A	probably benign	Het
B4galnt3	A	G	6: 120,208,555 (GRCm39)		probably benign	Het
Blvra	T	A	2: 126,924,871 (GRCm39)	V11E	probably damaging	Het
Calcb	T	C	7: 114,319,371 (GRCm39)	L51P	probably damaging	Het
Cd36	T	A	5: 18,025,563 (GRCm39)	K52N	probably benign	Het
Cebpz	T	C	17: 79,229,982 (GRCm39)	N857S	probably benign	Het
Ces1b	A	G	8: 93,791,502 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,470,295 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,674 (GRCm39)	L283H	probably damaging	Het
Ctc1	T	C	11: 68,921,987 (GRCm39)	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,408,730 (GRCm39)	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,801,600 (GRCm39)	N83D	probably benign	Het
Eci2	T	C	13: 35,172,296 (GRCm39)	T146A	probably benign	Het
Erbin	T	C	13: 103,977,671 (GRCm39)	N629D	possibly damaging	Het
Etfbkmt	A	G	6: 149,045,781 (GRCm39)	E45G	probably damaging	Het
Fat4	A	G	3: 39,045,834 (GRCm39)	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Garem1	G	T	18: 21,264,523 (GRCm39)	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451 (GRCm38)	I37T	probably benign	Het
Ikzf5	T	C	7: 130,998,494 (GRCm39)	K13E	probably damaging	Het
Kl	T	A	5: 150,906,200 (GRCm39)	C523*	probably null	Het
Klhl7	G	A	5: 24,364,687 (GRCm39)	V574I	probably benign	Het
Lyst	T	C	13: 13,856,029 (GRCm39)	V2450A	probably benign	Het
Map3k6	A	T	4: 132,976,999 (GRCm39)	I819F	probably damaging	Het
Mphosph9	T	C	5: 124,401,074 (GRCm39)	E891G	probably damaging	Het
Myo7b	A	G	18: 32,147,355 (GRCm39)	S63P	probably damaging	Het
Ndufaf7	C	T	17: 79,252,439 (GRCm39)	R283C	possibly damaging	Het
Nepro	G	T	16: 44,547,462 (GRCm39)	A60S	probably damaging	Het
Nop56	T	C	2: 130,119,445 (GRCm39)	S354P	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Or4a80	T	C	2: 89,583,172 (GRCm39)		probably null	Het
Or52ad1	A	T	7: 102,996,056 (GRCm39)	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,091,852 (GRCm39)		probably benign	Het
Parp12	C	T	6: 39,091,165 (GRCm39)	D142N	probably benign	Het
Pcdh15	G	A	10: 74,466,527 (GRCm39)	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,820,778 (GRCm39)	T70M	probably benign	Het
Pld4	T	C	12: 112,733,263 (GRCm39)	F280L	probably benign	Het
Ppm1k	C	A	6: 57,501,759 (GRCm39)	A135S	probably damaging	Het
Prkcq	A	T	2: 11,237,356 (GRCm39)	Y45F	probably benign	Het
Prom1	T	A	5: 44,187,076 (GRCm39)	I385F	probably damaging	Het
Prss12	A	G	3: 123,299,036 (GRCm39)	N603D	probably benign	Het
Ptbp2	G	T	3: 119,514,074 (GRCm39)	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,193,183 (GRCm39)	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,008,429 (GRCm39)	Y42H	possibly damaging	Het
Serpina9	G	A	12: 103,974,869 (GRCm39)	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,269,275 (GRCm39)	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 64,379,617 (GRCm39)	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,523,745 (GRCm39)	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,730,018 (GRCm39)	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619 (GRCm39)	I209N	probably benign	Het
Tmc4	T	A	7: 3,670,177 (GRCm39)	I484L	probably benign	Het
Ttll5	G	A	12: 85,965,758 (GRCm39)	E36K	probably damaging	Het
Unc93b1	A	G	19: 3,994,041 (GRCm39)	M391V	probably benign	Het
Xpo5	T	A	17: 46,526,740 (GRCm39)		probably null	Het

Other mutations in Arsj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Arsj	APN	3	126,158,594 (GRCm39)	missense	probably benign	0.00
IGL01150:Arsj	APN	3	126,232,433 (GRCm39)	missense	probably benign
IGL01337:Arsj	APN	3	126,158,763 (GRCm39)	missense	probably damaging	1.00
IGL01446:Arsj	APN	3	126,232,463 (GRCm39)	missense	probably benign	0.01
IGL01484:Arsj	APN	3	126,158,685 (GRCm39)	missense	probably damaging	1.00
IGL02479:Arsj	APN	3	126,232,588 (GRCm39)	missense	possibly damaging	0.91
R0552:Arsj	UTSW	3	126,232,993 (GRCm39)	missense	probably benign	0.01
R0690:Arsj	UTSW	3	126,231,833 (GRCm39)	missense	probably damaging	0.99
R1809:Arsj	UTSW	3	126,231,944 (GRCm39)	missense	possibly damaging	0.87
R1881:Arsj	UTSW	3	126,232,486 (GRCm39)	missense	probably damaging	1.00
R1940:Arsj	UTSW	3	126,231,995 (GRCm39)	missense	probably damaging	1.00
R1957:Arsj	UTSW	3	126,232,670 (GRCm39)	missense	probably benign	0.08
R2156:Arsj	UTSW	3	126,232,337 (GRCm39)	missense	probably damaging	1.00
R2969:Arsj	UTSW	3	126,233,021 (GRCm39)	missense	probably benign	0.01
R3432:Arsj	UTSW	3	126,158,624 (GRCm39)	missense	probably benign	0.00
R4623:Arsj	UTSW	3	126,158,445 (GRCm39)	missense	probably benign	0.00
R4826:Arsj	UTSW	3	126,232,451 (GRCm39)	missense	probably damaging	1.00
R4955:Arsj	UTSW	3	126,232,189 (GRCm39)	missense	probably benign	0.15
R5134:Arsj	UTSW	3	126,231,803 (GRCm39)	missense	probably benign
R5164:Arsj	UTSW	3	126,231,808 (GRCm39)	missense	probably benign	0.00
R5468:Arsj	UTSW	3	126,232,037 (GRCm39)	missense	possibly damaging	0.52
R5664:Arsj	UTSW	3	126,232,306 (GRCm39)	missense	probably damaging	1.00
R6136:Arsj	UTSW	3	126,158,424 (GRCm39)	start codon destroyed	probably null	0.07
R7030:Arsj	UTSW	3	126,232,752 (GRCm39)	missense	probably damaging	1.00
R7036:Arsj	UTSW	3	126,158,649 (GRCm39)	missense	probably damaging	0.99
R7064:Arsj	UTSW	3	126,231,986 (GRCm39)	missense	probably damaging	1.00
R7503:Arsj	UTSW	3	126,158,493 (GRCm39)	missense	probably benign
R7555:Arsj	UTSW	3	126,231,885 (GRCm39)	nonsense	probably null
R7956:Arsj	UTSW	3	126,232,151 (GRCm39)	missense	probably damaging	1.00
R8765:Arsj	UTSW	3	126,232,781 (GRCm39)	missense	probably benign	0.00
R9218:Arsj	UTSW	3	126,232,114 (GRCm39)	missense	probably benign	0.00
R9368:Arsj	UTSW	3	126,232,745 (GRCm39)	missense	probably damaging	1.00
R9675:Arsj	UTSW	3	126,231,765 (GRCm39)	missense	probably damaging	1.00
R9707:Arsj	UTSW	3	126,232,160 (GRCm39)	missense	possibly damaging	0.72
X0022:Arsj	UTSW	3	126,158,615 (GRCm39)	missense	possibly damaging	0.52
Z1088:Arsj	UTSW	3	126,232,781 (GRCm39)	missense	possibly damaging	0.93
Z1177:Arsj	UTSW	3	126,232,558 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02