Mutagenetix > Incidental Mutations

Incidental Mutation 'R5664:Arsj'

444241

Institutional Source

Beutler Lab

Gene Symbol

Arsj

Ensembl Gene

ENSMUSG00000046561

Gene Name

arylsulfatase J

Synonyms

9330196J05Rik

MMRRC Submission

043307-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126363684-126440375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126438657 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 351 (I351F)

Ref Sequence

ENSEMBL: ENSMUSP00000091511 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093976
AA Change: I351F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: I351F

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

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,348,994		probably null	Het
1810032O08Rik	A	T	11: 116,672,664	T27S	possibly damaging	Het
4930432K21Rik	A	T	8: 84,166,659	I152F	probably benign	Het
9430015G10Rik	T	A	4: 156,123,559	L112H	probably damaging	Het
Acaca	T	C	11: 84,243,384	L441P	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Atp6v1b2	A	G	8: 69,107,620	T373A	probably damaging	Het
Atr	C	A	9: 95,905,813	N1486K	probably benign	Het
Avl9	T	C	6: 56,753,839	S583P	probably damaging	Het
Bptf	A	T	11: 107,073,699	D1493E	probably benign	Het
C2cd2l	T	C	9: 44,313,772	E548G	probably damaging	Het
Capn3	G	A	2: 120,477,025	R15Q	probably benign	Het
Ccl3	A	G	11: 83,649,213	F22S	probably benign	Het
Clcf1	T	C	19: 4,222,096	F69S	probably damaging	Het
Col13a1	T	C	10: 61,851,116	E170G	probably damaging	Het
Dhx29	T	A	13: 112,946,879	F489L	probably damaging	Het
Dhx8	A	T	11: 101,740,751	N390I	probably damaging	Het
Dkk1	T	A	19: 30,548,789	Y135F	probably benign	Het
Edil3	G	T	13: 89,319,713	V446F	probably damaging	Het
Epha5	T	A	5: 84,331,866	E93V	probably damaging	Het
Epsti1	C	T	14: 77,963,664	T196I	possibly damaging	Het
Fras1	T	C	5: 96,728,535	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,652,490	V1532A	probably benign	Het
Fsip2	T	A	2: 82,988,095	M4724K	probably benign	Het
Gcat	T	A	15: 79,043,073	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,702,275	K276E	probably benign	Het
Gjb5	T	A	4: 127,355,929	I141F	probably benign	Het
Glt6d1	T	C	2: 25,814,180	I7V	probably benign	Het
Gm37596	A	G	3: 93,692,687	F125S	probably benign	Het
Gm5771	C	T	6: 41,394,671	P17L	probably benign	Het
Gm6169	C	A	13: 97,099,121	L39F	probably damaging	Het
Gtf2h5	G	A	17: 6,084,524	G30R	probably damaging	Het
Herc6	C	A	6: 57,618,684	T449K	probably benign	Het
Hpn	A	T	7: 31,099,262	Y132N	probably damaging	Het
Hpx	A	T	7: 105,595,148	M190K	probably benign	Het
Inf2	A	G	12: 112,611,728	H1151R	unknown	Het
Krt74	A	G	15: 101,760,579		noncoding transcript	Het
Loxl3	G	A	6: 83,049,882	S564N	probably benign	Het
Map7	T	A	10: 20,267,359	V418E	unknown	Het
Mrpl37	T	C	4: 107,064,391	N214D	probably benign	Het
Mthfr	T	C	4: 148,055,466	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,359,882	D2099G	probably benign	Het
Nktr	T	A	9: 121,749,417	C825*	probably null	Het
Nomo1	A	G	7: 46,076,157	E1029G	probably benign	Het
Nup133	T	C	8: 123,906,281	D1037G	probably benign	Het
Olfr1271	A	G	2: 90,265,615	F272L	probably damaging	Het
Olfr153	T	C	2: 87,532,834	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,448,996	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,737,007	L38P	probably damaging	Het
Pkd1	A	T	17: 24,569,371	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,537,478	T1070A	probably damaging	Het
Ppl	T	C	16: 5,106,055	D185G	probably benign	Het
Prune1	A	T	3: 95,258,178	L261Q	probably damaging	Het
Qser1	A	T	2: 104,778,196	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,654,467	C8G	probably damaging	Het
Sla2	A	T	2: 156,874,999	D180E	probably benign	Het
Slc4a4	C	T	5: 89,028,244	L25F	probably damaging	Het
Tbx3	A	G	5: 119,678,731	K311R	possibly damaging	Het
Thbs2	A	T	17: 14,689,837	C167S	probably damaging	Het
Trak1	T	A	9: 121,472,307	C710S	possibly damaging	Het
Tsks	G	A	7: 44,953,784	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,746,379	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,592,765	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,713,074	T303M	probably damaging	Het
Vmn2r68	A	T	7: 85,233,770	M258K	probably benign	Het
Vmn2r76	A	G	7: 86,245,994		probably null	Het
Wap	A	G	11: 6,638,609	I5T	possibly damaging	Het
Zfp235	A	C	7: 24,142,151	H665P	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
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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGGCAGGTACTTTGAACAC -3'
(R):5'- GCAAAATATCCACTCGGGGTG -3'

Sequencing Primer
(F):5'- CTGGCAGGTACTTTGAACACTACAG -3'
(R):5'- TCGGGGTGAACGAAGACCTTC -3'

Posted On

2016-11-09