Mutagenetix > Incidental Mutation

Incidental Mutation 'R7503:Arsj'

581606

Institutional Source

Beutler Lab

Gene Symbol

Arsj

Ensembl Gene

ENSMUSG00000046561

Gene Name

arylsulfatase J

Synonyms

9330196J05Rik

MMRRC Submission

045576-MU

Accession Numbers

Essential gene?

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

Stock #

R7503 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126157566-126234025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126158493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 24 (F24S)

Ref Sequence

ENSEMBL: ENSMUSP00000091511 (fasta)

Gene Model

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

AlphaFold

Q8BM89

Predicted Effect

probably benign
Transcript: ENSMUST00000093976
AA Change: F24S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: F24S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	G	A	8: 12,329,554 (GRCm39)	G3D	unknown	Het
Aif1	A	T	17: 35,390,549 (GRCm39)	I67N	probably damaging	Het
Akap11	T	C	14: 78,749,441 (GRCm39)	D982G		Het
Anpep	A	G	7: 79,476,385 (GRCm39)	L827P	probably damaging	Het
Arhgef5	A	T	6: 43,250,933 (GRCm39)	K561N	probably benign	Het
Bard1	T	C	1: 71,069,995 (GRCm39)	D661G	probably damaging	Het
Cc2d2b	A	G	19: 40,783,056 (GRCm39)	I618V	unknown	Het
Cfap251	G	T	5: 123,435,521 (GRCm39)	E994*	probably null	Het
Cfap54	T	A	10: 92,723,298 (GRCm39)		probably null	Het
Cfhr2	T	A	1: 139,758,952 (GRCm39)	I33F	probably damaging	Het
Dsc1	G	A	18: 20,218,922 (GRCm39)	H827Y	probably damaging	Het
Eif3i	C	T	4: 129,494,207 (GRCm39)	D31N	probably damaging	Het
Eno1b	A	T	18: 48,179,878 (GRCm39)	T19S	probably damaging	Het
Eva1a	G	A	6: 82,048,210 (GRCm39)	W29*	probably null	Het
Evc	T	C	5: 37,458,111 (GRCm39)	K803R	unknown	Het
F5	T	A	1: 164,019,779 (GRCm39)	N751K	probably damaging	Het
Fam120a	A	T	13: 49,102,723 (GRCm39)	N177K	probably benign	Het
Farp2	T	G	1: 93,495,219 (GRCm39)	I164R	probably benign	Het
Gm20379	C	T	13: 92,442,565 (GRCm39)	P26L		Het
Hmgcs2	T	C	3: 98,209,940 (GRCm39)	S433P	probably damaging	Het
Inava	T	C	1: 136,143,675 (GRCm39)	D587G	possibly damaging	Het
Ints2	T	C	11: 86,122,881 (GRCm39)	T633A	probably benign	Het
Invs	C	T	4: 48,396,347 (GRCm39)	T340M	probably damaging	Het
Mef2c	A	C	13: 83,810,623 (GRCm39)	D391A	possibly damaging	Het
Msh4	A	C	3: 153,573,387 (GRCm39)	S756A	probably damaging	Het
Mylk3	T	C	8: 86,080,218 (GRCm39)	T490A	probably benign	Het
Myo1b	A	T	1: 51,815,761 (GRCm39)		probably null	Het
Nsmce1	A	G	7: 125,071,106 (GRCm39)	S107P	probably benign	Het
Or52a24	T	A	7: 103,381,474 (GRCm39)	S114T	probably damaging	Het
Or5d43	T	C	2: 88,105,039 (GRCm39)	Y118C	probably damaging	Het
Pcdhb21	G	A	18: 37,648,028 (GRCm39)	D386N	probably benign	Het
Pcdhb22	T	G	18: 37,652,155 (GRCm39)	L208V	probably benign	Het
Pigu	C	T	2: 155,173,064 (GRCm39)		probably null	Het
Plcz1	T	A	6: 139,936,474 (GRCm39)	E585V	probably damaging	Het
Pnpla7	C	A	2: 24,873,544 (GRCm39)	C183*	probably null	Het
Pomgnt1	T	C	4: 116,009,949 (GRCm39)	V133A	possibly damaging	Het
Prl3d3	A	G	13: 27,345,096 (GRCm39)	Y156C	probably benign	Het
Prpf39	A	G	12: 65,100,167 (GRCm39)	D280G	probably benign	Het
Recql5	C	A	11: 115,785,881 (GRCm39)	A631S	probably benign	Het
Runx3	C	A	4: 134,882,679 (GRCm39)	N138K	probably damaging	Het
Scaper	T	C	9: 55,715,038 (GRCm39)	D750G	probably damaging	Het
Slc16a3	T	C	11: 120,847,853 (GRCm39)	L347P	probably damaging	Het
Slc25a1	G	T	16: 17,744,303 (GRCm39)	Y209*	probably null	Het
Smad2	A	G	18: 76,419,956 (GRCm39)	S88G	probably benign	Het
Sorcs1	A	G	19: 50,141,490 (GRCm39)	C1125R	probably benign	Het
Spata21	T	A	4: 140,822,614 (GRCm39)	I140N	probably benign	Het
Speer3	A	T	5: 13,843,348 (GRCm39)	D85V	probably benign	Het
Spopfm1	A	T	3: 94,173,780 (GRCm39)	M259L	probably benign	Het
Stra6	A	G	9: 58,058,528 (GRCm39)	N463S	possibly damaging	Het
Tmem14a	T	G	1: 21,299,623 (GRCm39)		probably null	Het
Tsc1	T	A	2: 28,577,088 (GRCm39)	L1130Q	possibly damaging	Het
Ttn	T	C	2: 76,611,401 (GRCm39)	D17377G	possibly damaging	Het
Utf1	A	G	7: 139,524,046 (GRCm39)	D87G	probably damaging	Het
Vmn2r6	G	A	3: 64,447,372 (GRCm39)	Q565*	probably null	Het
Vmn2r63	A	T	7: 42,583,014 (GRCm39)	M67K	probably benign	Het
Vmn2r90	T	C	17: 17,933,510 (GRCm39)	Y357H	not run	Het
Vmn2r97	A	G	17: 19,148,470 (GRCm39)	T122A	probably benign	Het
Wdhd1	T	C	14: 47,488,248 (GRCm39)	E753G	probably benign	Het
Wdr11	A	G	7: 129,204,834 (GRCm39)	N213S	probably benign	Het
Xdh	A	C	17: 74,233,205 (GRCm39)	D207E	probably damaging	Het
Zfp281	T	A	1: 136,554,678 (GRCm39)	I552N	possibly damaging	Het
Zzef1	T	A	11: 72,716,893 (GRCm39)	I361K	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
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'- CTCCAGAGGATTGAAGTTGTGG -3'
(R):5'- TCTCAGATCCGTGGTAACCC -3'

Sequencing Primer
(F):5'- AGCAGGATTCCCTCGCAG -3'
(R):5'- TCTAAATCCCTGATCATCAGCTAAG -3'

Posted On

2019-10-17