Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02479:Arsj'

295124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arsj

Ensembl Gene

ENSMUSG00000046561

Gene Name

arylsulfatase J

Synonyms

9330196J05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

126363684-126440375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126438939 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 445 (S445P)

Ref Sequence

ENSEMBL: ENSMUSP00000091511 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093976
AA Change: S445P

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: S445P

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,501,398	Y528C	probably damaging	Het
Adam24	T	A	8: 40,679,532	I13N	probably benign	Het
Btf3l4	G	A	4: 108,826,176	T31I	possibly damaging	Het
Cask	A	T	X: 13,557,058	D502E	probably damaging	Het
Cenpl	T	A	1: 161,083,067	S195T	probably benign	Het
Clhc1	T	A	11: 29,578,107	I545N	probably damaging	Het
Clrn2	T	C	5: 45,463,912	I216T	probably benign	Het
Csf2rb	C	T	15: 78,341,724	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,790,667	D284G	probably benign	Het
Dgka	T	C	10: 128,730,246	E345G	probably benign	Het
Dync1i2	G	A	2: 71,235,979	V128I	probably damaging	Het
Eno3	T	A	11: 70,660,888		probably benign	Het
Epc2	T	A	2: 49,532,135	I347K	probably benign	Het
F8	A	T	X: 75,288,240	N681K	probably damaging	Het
Fam207a	T	C	10: 77,514,327	S76G	probably damaging	Het
Fancm	T	A	12: 65,106,485	D1238E	probably damaging	Het
Fcna	T	A	2: 25,625,260	Q237L	probably benign	Het
Fpr2	A	T	17: 17,892,812	R23S	probably benign	Het
Frmd3	A	G	4: 74,187,515	D466G	probably benign	Het
Gen1	C	A	12: 11,241,935	V618L	probably benign	Het
Gja4	T	C	4: 127,312,424	E182G	probably benign	Het
Gsdmc	T	A	15: 63,777,975	I356F	possibly damaging	Het
Kctd19	T	C	8: 105,384,768	D102G	probably damaging	Het
Lrit2	T	C	14: 37,072,278	L433P	probably damaging	Het
Lrp2	G	A	2: 69,464,801		probably benign	Het
Luc7l3	G	A	11: 94,296,909		probably benign	Het
Map3k5	T	A	10: 20,056,484	L458Q	probably damaging	Het
Mast4	A	G	13: 102,742,037	S1038P	probably damaging	Het
Med12	A	T	X: 101,296,992		probably benign	Het
Mtor	T	A	4: 148,470,584	L888M	probably damaging	Het
Nova1	A	T	12: 46,816,918	I83N	unknown	Het
Obscn	A	G	11: 59,056,227		probably benign	Het
Olfr1309	A	C	2: 111,983,385	S230A	probably benign	Het
Olfr1320	T	C	X: 49,683,865	V121A	probably benign	Het
Olfr1426	T	A	19: 12,087,905	M296L	probably benign	Het
Olfr420	C	A	1: 174,158,954	Y60*	probably null	Het
Pde2a	A	G	7: 101,501,083	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,299,783	K1062*	probably null	Het
Phc1	A	T	6: 122,323,717		probably benign	Het
Pik3c2g	T	A	6: 139,918,004	S764T	probably benign	Het
Pmp2	T	G	3: 10,182,202	R89S	probably benign	Het
Prdm2	A	G	4: 143,134,929	L597P	probably damaging	Het
Rfx6	T	A	10: 51,678,328	D88E	probably benign	Het
Rgs9	T	C	11: 109,225,652	S442G	possibly damaging	Het
Ror2	C	T	13: 53,131,932	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,978,026	A986E	possibly damaging	Het
Slc5a5	T	A	8: 70,888,911	M325L	possibly damaging	Het
Sppl2c	G	A	11: 104,186,937	V188I	probably benign	Het
Srrm3	G	T	5: 135,835,249	C67F	probably damaging	Het
Stk31	A	G	6: 49,421,688	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,405,751	R75*	probably null	Het
Trav8d-1	T	C	14: 52,778,800	S48P	probably benign	Het
Vrk1	A	T	12: 106,051,002	Q95L	probably benign	Het
Wdr25	C	A	12: 108,898,601	T224K	probably benign	Het
Wdr37	A	T	13: 8,842,784	H224Q	probably damaging	Het
Zhx1	C	T	15: 58,054,371	E160K	probably damaging	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
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
R4826:Arsj	UTSW	3	126438802	missense	probably damaging	1.00
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
R7030:Arsj	UTSW	3	126439103	missense	probably damaging	1.00
R7036:Arsj	UTSW	3	126365000	missense	probably damaging	0.99
R7064:Arsj	UTSW	3	126438337	missense	probably damaging	1.00
R7503:Arsj	UTSW	3	126364844	missense	probably benign
R7555:Arsj	UTSW	3	126438236	nonsense	probably null
R7956:Arsj	UTSW	3	126438502	missense	probably damaging	1.00
X0022:Arsj	UTSW	3	126364966	missense	possibly damaging	0.52
Z1088:Arsj	UTSW	3	126439132	missense	possibly damaging	0.93
Z1177:Arsj	UTSW	3	126438909	missense	probably damaging	1.00

Posted On

2015-04-16