Mutagenetix > Incidental Mutation

Incidental Mutation 'R4623:Arsj'

346304

Institutional Source

Beutler Lab

Gene Symbol

Arsj

Ensembl Gene

ENSMUSG00000046561

Gene Name

arylsulfatase J

Synonyms

9330196J05Rik

MMRRC Submission

041888-MU

Accession Numbers

Essential gene?

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

Stock #

R4623 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

126157566-126234025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126158445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 8 (E8V)

Ref Sequence

ENSEMBL: ENSMUSP00000091511 (fasta)

Gene Model

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

AlphaFold

Q8BM89

Predicted Effect

probably benign
Transcript: ENSMUST00000093976
AA Change: E8V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: E8V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	T	C	12: 11,272,141 (GRCm39)		noncoding transcript	Het
A930003A15Rik	C	T	16: 19,702,487 (GRCm39)		noncoding transcript	Het
Abca13	A	G	11: 9,259,130 (GRCm39)	Y2952C	probably damaging	Het
Actrt2	T	C	4: 154,751,747 (GRCm39)	T130A	probably benign	Het
Adamts7	T	A	9: 90,068,515 (GRCm39)	D475E	probably benign	Het
Adgrf5	A	G	17: 43,761,874 (GRCm39)	S1190G	probably benign	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Aldoc	T	C	11: 78,215,947 (GRCm39)	V151A	probably damaging	Het
Asph	T	C	4: 9,622,005 (GRCm39)	K167E	possibly damaging	Het
Auts2	G	A	5: 131,469,221 (GRCm39)	P475S	probably benign	Het
C1d	A	G	11: 17,212,742 (GRCm39)	D29G	possibly damaging	Het
Calb1	T	A	4: 15,895,721 (GRCm39)		probably benign	Het
Ceacam15	A	T	7: 16,407,391 (GRCm39)	F42Y	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cts6	A	T	13: 61,349,974 (GRCm39)	Y36N	possibly damaging	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Cyp2a22	G	T	7: 26,632,916 (GRCm39)	P429T	probably damaging	Het
Dipk2a	T	C	9: 94,402,451 (GRCm39)	N404D	possibly damaging	Het
Dock3	T	C	9: 106,939,244 (GRCm39)	E168G	possibly damaging	Het
Dot1l	A	G	10: 80,617,984 (GRCm39)	N324S	probably benign	Het
Dusp13b	A	C	14: 21,793,546 (GRCm39)		probably benign	Het
Eif4g1	T	A	16: 20,500,095 (GRCm39)		probably benign	Het
Fan1	G	T	7: 64,023,301 (GRCm39)	Y121*	probably null	Het
Foxn4	T	C	5: 114,398,991 (GRCm39)	E80G	possibly damaging	Het
Gal3st2c	C	A	1: 93,937,178 (GRCm39)	H374Q	possibly damaging	Het
Gm973	A	T	1: 59,595,435 (GRCm39)	I409F	probably damaging	Het
Gpr18	T	A	14: 122,149,579 (GRCm39)	T149S	probably damaging	Het
Gsr	A	G	8: 34,170,333 (GRCm39)	E206G	probably damaging	Het
Hal	A	G	10: 93,343,301 (GRCm39)	H515R	probably damaging	Het
Heatr5b	A	G	17: 79,102,548 (GRCm39)	S1277P	possibly damaging	Het
Hmcn2	A	G	2: 31,286,722 (GRCm39)	E2125G	probably damaging	Het
Ikzf4	A	G	10: 128,476,988 (GRCm39)	C108R	probably damaging	Het
Kcnh2	A	G	5: 24,553,440 (GRCm39)	V59A	probably benign	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Kif11	A	T	19: 37,398,195 (GRCm39)	I674L	probably benign	Het
Lrp1b	A	T	2: 41,136,033 (GRCm39)	C1646S	probably damaging	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mib1	C	A	18: 10,808,086 (GRCm39)	N944K	probably benign	Het
Mical3	C	A	6: 120,938,586 (GRCm39)	E262*	probably null	Het
Mms22l	C	T	4: 24,502,792 (GRCm39)	Q55*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrps11	T	C	7: 78,441,689 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ncapd2	A	G	6: 125,150,572 (GRCm39)	V843A	probably benign	Het
Nell1	A	G	7: 49,770,310 (GRCm39)	E123G	possibly damaging	Het
Nkd1	A	G	8: 89,316,383 (GRCm39)	D213G	probably benign	Het
Nlrp1b	T	C	11: 71,052,669 (GRCm39)	T920A	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or6c208	G	A	10: 129,223,915 (GRCm39)	V138M	probably benign	Het
Or8k40	T	A	2: 86,584,906 (GRCm39)	M59L	possibly damaging	Het
Pde8b	C	T	13: 95,178,447 (GRCm39)	A566T	possibly damaging	Het
Pds5b	T	A	5: 150,724,066 (GRCm39)	S1214R	probably benign	Het
Pld1	T	C	3: 28,083,393 (GRCm39)	I171T	probably benign	Het
Plekha5	T	A	6: 140,496,912 (GRCm39)	V154E	probably damaging	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppp1r16b	A	G	2: 158,603,383 (GRCm39)	Y436C	possibly damaging	Het
Proc	T	A	18: 32,260,526 (GRCm39)	T200S	probably benign	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Ptger2	G	A	14: 45,226,471 (GRCm39)	R17H	possibly damaging	Het
Rab42	A	G	4: 132,030,504 (GRCm39)	F49L	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rdh10	G	A	1: 16,201,287 (GRCm39)		probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Sftpc	T	C	14: 70,759,718 (GRCm39)		probably null	Het
Shcbp1	A	C	8: 4,789,178 (GRCm39)	V547G	probably damaging	Het
Slc6a13	T	C	6: 121,302,104 (GRCm39)	S229P	probably damaging	Het
Soat2	A	T	15: 102,066,144 (GRCm39)		probably benign	Het
Swap70	A	G	7: 109,867,079 (GRCm39)	K294E	probably benign	Het
Tcim	C	A	8: 24,928,725 (GRCm39)	R63L	probably damaging	Het
Tek	G	A	4: 94,751,898 (GRCm39)	V1013I	probably damaging	Het
Tg	T	A	15: 66,607,120 (GRCm39)	M219K	probably benign	Het
Tie1	A	G	4: 118,343,808 (GRCm39)	S45P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Tram1l1	T	A	3: 124,115,509 (GRCm39)	M223K	possibly damaging	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Uspl1	T	A	5: 149,151,405 (GRCm39)	D669E	probably damaging	Het
Vav1	C	A	17: 57,606,839 (GRCm39)		probably null	Het
Vcl	A	T	14: 21,065,007 (GRCm39)	E634V	probably benign	Het
Zfp672	A	T	11: 58,207,281 (GRCm39)	C347S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GAGGACATCTGCTCCCTTCTAG -3'
(R):5'- CAGGTCTCTCATCAACTTGAGC -3'

Sequencing Primer
(F):5'- TGAGTTAAACCGTTACCTCCAGAG -3'
(R):5'- AACTTGAGCTTTTAGGGACCC -3'

Posted On

2015-09-25