Mutagenetix > Incidental Mutation

Incidental Mutation 'R8765:Arsj'

667807

Institutional Source

Beutler Lab

Gene Symbol

Arsj

Ensembl Gene

ENSMUSG00000046561

Gene Name

arylsulfatase J

Synonyms

9330196J05Rik

MMRRC Submission

068599-MU

Accession Numbers

Essential gene?

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

Stock #

R8765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126157566-126234025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126232781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 509 (R509K)

Ref Sequence

ENSEMBL: ENSMUSP00000091511 (fasta)

Gene Model

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

AlphaFold

Q8BM89

Predicted Effect

probably benign
Transcript: ENSMUST00000093976
AA Change: R509K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: R509K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,566,956 (GRCm39)	D452N	possibly damaging	Het
Actr1a	G	T	19: 46,372,787 (GRCm39)		probably benign	Het
Alox15	A	G	11: 70,240,819 (GRCm39)	V187A	probably benign	Het
Alpk1	A	T	3: 127,466,118 (GRCm39)	N1129K	probably damaging	Het
Angptl1	A	G	1: 156,684,727 (GRCm39)	N299D	probably benign	Het
Ank2	T	C	3: 126,850,731 (GRCm39)	T128A	possibly damaging	Het
Armh4	C	T	14: 49,920,100 (GRCm39)	R743K	probably damaging	Het
Atp6v0a2	G	A	5: 124,793,534 (GRCm39)	M630I	probably damaging	Het
BC107364	T	C	3: 96,341,751 (GRCm39)	H122R	unknown	Het
Bdh2	T	C	3: 134,996,841 (GRCm39)	M112T	probably benign	Het
C1qtnf3	G	A	15: 10,952,843 (GRCm39)		probably null	Het
Cables1	T	C	18: 12,056,422 (GRCm39)	L326P	probably benign	Het
Cacna1c	C	A	6: 118,580,844 (GRCm39)	A1769S		Het
Cacna2d2	T	C	9: 107,394,358 (GRCm39)	L567P	probably damaging	Het
Cacnb4	C	T	2: 52,327,001 (GRCm39)	R399H	probably damaging	Het
Cacng4	A	C	11: 107,625,976 (GRCm39)	I205S	probably damaging	Het
Ciz1	A	G	2: 32,260,895 (GRCm39)	K269E	probably damaging	Het
Csf1	A	G	3: 107,663,991 (GRCm39)	V35A	probably benign	Het
Csmd1	G	T	8: 16,760,627 (GRCm39)	Y169*	probably null	Het
Ctnna1	T	A	18: 35,384,293 (GRCm39)	M756K	probably damaging	Het
Dnah7b	T	A	1: 46,392,159 (GRCm39)	L3840Q	possibly damaging	Het
Fabp9	T	C	3: 10,258,813 (GRCm39)	*143W	probably null	Het
Fh1	C	T	1: 175,435,378 (GRCm39)		probably benign	Het
Fmo2	T	C	1: 162,707,966 (GRCm39)	T390A	probably benign	Het
Fsip1	G	T	2: 118,082,154 (GRCm39)	D93E	possibly damaging	Het
Golga5	A	G	12: 102,445,963 (GRCm39)	D406G	probably benign	Het
Gucy2d	C	A	7: 98,108,347 (GRCm39)	A760E	probably benign	Het
Hax1	T	C	3: 89,904,780 (GRCm39)	I141V	probably benign	Het
Hid1	T	A	11: 115,239,786 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,556,413 (GRCm39)	V2458I	probably damaging	Het
Igkv4-72	A	G	6: 69,203,894 (GRCm39)	V99A	probably benign	Het
Igkv5-39	G	A	6: 69,877,915 (GRCm39)	S16L	probably benign	Het
Ints4	T	A	7: 97,151,016 (GRCm39)	D294E	possibly damaging	Het
Lcn11	A	G	2: 25,668,139 (GRCm39)	Y99C	probably damaging	Het
Lrrc8b	G	A	5: 105,629,133 (GRCm39)	R493H	probably benign	Het
Mon1b	A	T	8: 114,362,881 (GRCm39)	D43V	possibly damaging	Het
Mrpl9	G	A	3: 94,355,129 (GRCm39)	V234I	possibly damaging	Het
Nek10	A	T	14: 14,999,104 (GRCm38)	E1034D	probably damaging	Het
Nfxl1	T	C	5: 72,686,443 (GRCm39)	H586R	probably benign	Het
Nit2	T	A	16: 56,979,832 (GRCm39)	D211V	probably benign	Het
Nle1	G	A	11: 82,793,882 (GRCm39)	R385C	probably damaging	Het
Or10ak12	T	C	4: 118,666,159 (GRCm39)	T301A	probably benign	Het
Or1i2	C	T	10: 78,448,429 (GRCm39)	M15I	probably benign	Het
Or2a25	T	C	6: 42,889,102 (GRCm39)	V215A	probably benign	Het
Or2ab1	G	T	11: 58,488,785 (GRCm39)	V182F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,467 (GRCm39)	H132R	probably benign	Het
Or6c213	A	G	10: 129,574,511 (GRCm39)	Y92H	probably damaging	Het
Pcdh10	T	C	3: 45,333,923 (GRCm39)	I79T	probably damaging	Het
Peg10	A	G	6: 4,754,492 (GRCm39)	D91G	unknown	Het
Plec	C	T	15: 76,066,045 (GRCm39)	A1342T	unknown	Het
Ppp2r3d	A	G	9: 124,439,649 (GRCm38)	V68A		Het
Pramel46	T	C	5: 95,419,447 (GRCm39)	M1V	probably null	Het
Psd3	A	T	8: 68,416,093 (GRCm39)	D315E	possibly damaging	Het
Rack1	A	G	11: 48,694,286 (GRCm39)	N162S	probably benign	Het
Slc12a8	C	A	16: 33,338,731 (GRCm39)	H11Q	possibly damaging	Het
Slc44a5	A	T	3: 153,968,561 (GRCm39)	D584V	probably damaging	Het
Spata18	T	C	5: 73,825,992 (GRCm39)	S100P		Het
Stap2	G	T	17: 56,310,145 (GRCm39)	S53R	probably damaging	Het
Timeless	T	C	10: 128,080,412 (GRCm39)		probably null	Het
Tlk1	A	T	2: 70,582,581 (GRCm39)	S183T	probably benign	Het
Tpp2	T	A	1: 44,011,849 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,654,663 (GRCm39)		probably benign	Het
Uri1	A	G	7: 37,696,145 (GRCm39)	V40A	probably benign	Het
Vmn1r15	T	C	6: 57,235,585 (GRCm39)	V151A	probably benign	Het
Vmn1r198	A	C	13: 22,539,269 (GRCm39)	I252L	probably damaging	Het
Vmn2r101	T	A	17: 19,809,245 (GRCm39)	W125R	probably damaging	Het
Wdr89	A	G	12: 75,679,688 (GRCm39)	S189P	probably damaging	Het
Zfp1006	T	C	8: 129,948,070 (GRCm39)	D49G	probably benign	Het
Zfp873	T	A	10: 81,896,072 (GRCm39)	C268S	probably damaging	Het
Zfp932	T	A	5: 110,154,827 (GRCm39)	D8E	probably benign	Het
Zfyve16	T	C	13: 92,658,055 (GRCm39)	R619G	probably benign	Het
Zswim2	A	T	2: 83,771,431 (GRCm39)	I31N	probably damaging	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
IGL03149:Arsj	APN	3	126,233,053 (GRCm39)	utr 3 prime	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCGGGTACAACACTGGAAACTG -3'
(R):5'- TTGAGGAGTGAGCTGCCAAC -3'

Sequencing Primer
(F):5'- GGTACAACACTGGAAACTGCTCAC -3'
(R):5'- GCTGCCAACTGCTTCCTCATC -3'

Posted On

2021-03-08