Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00903:Arsk'

28830

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arsk

Ensembl Gene

ENSMUSG00000021592

Gene Name

arylsulfatase K

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00903

Quality Score

Status

Chromosome

Chromosomal Location

76060422-76098660 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 76098368 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091466] [ENSMUST00000120573] [ENSMUST00000223579] [ENSMUST00000224386]

Predicted Effect

probably benign
Transcript: ENSMUST00000091466

SMART Domains

Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991

Domain	Start	End	E-Value	Type
TPR	6	39	2.92e1	SMART
TPR	40	73	1.1e-1	SMART
TPR	272	305	9.45e0	SMART
TPR	306	339	8.9e-2	SMART
SEL1	420	451	1.45e2	SMART
TPR	420	453	2.55e-2	SMART
SEL1	454	490	1.15e1	SMART
TPR	454	492	2.84e1	SMART
TPR	493	527	1.92e1	SMART
TPR	564	597	7.34e-3	SMART
TPR	598	631	1.81e-2	SMART
TPR	632	665	2.43e1	SMART
low complexity region	728	739	N/A	INTRINSIC
SEL1	861	892	3.58e1	SMART
TPR	861	894	2.14e-4	SMART
TPR	980	1013	1.56e1	SMART
Blast:TPR	1051	1084	7e-11	BLAST
Blast:TPR	1088	1121	7e-10	BLAST
TPR	1399	1432	4.31e0	SMART
low complexity region	1438	1450	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120573

SMART Domains

Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Sulfatase	35	371	6e-49	PFAM
low complexity region	381	392	N/A	INTRINSIC
low complexity region	537	555	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123282

Predicted Effect

probably benign
Transcript: ENSMUST00000223579

Predicted Effect

probably benign
Transcript: ENSMUST00000224386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224884

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 ARSK, 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500012F01Rik	G	T	2: 167,065,486		probably benign	Het
As3mt	A	G	19: 46,712,234	I159V	probably benign	Het
Ctsll3	C	A	13: 60,800,261	V201L	probably benign	Het
Dapk1	T	C	13: 60,761,397	Y1275H	probably damaging	Het
Erap1	G	A	13: 74,673,707	R727H	probably benign	Het
Fam173b	T	C	15: 31,606,115	V73A	possibly damaging	Het
Fcrl6	T	A	1: 172,599,107	T91S	probably benign	Het
Gvin1	T	C	7: 106,158,170	E2364G	probably benign	Het
Hacd3	T	C	9: 65,004,253		probably benign	Het
Hcls1	T	A	16: 36,956,021		probably null	Het
Igf2r	C	T	17: 12,683,867	R2432H	possibly damaging	Het
Kif27	C	A	13: 58,344,672	V218F	possibly damaging	Het
Klhl20	T	C	1: 161,090,506	Y70C	probably benign	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Lcn12	G	T	2: 25,493,320	N15K	possibly damaging	Het
Mrgpra1	T	C	7: 47,335,578	M118V	probably benign	Het
Nacad	G	T	11: 6,600,632	T853K	probably damaging	Het
Nos3	A	T	5: 24,369,862	Q293L	probably damaging	Het
Prkca	C	T	11: 107,983,974	V381M	probably damaging	Het
Ptcd3	A	G	6: 71,907,844	F37S	possibly damaging	Het
Ptgs2	A	G	1: 150,104,424	Y371C	probably damaging	Het
Pygl	T	C	12: 70,207,742	Y143C	probably damaging	Het
Samhd1	A	G	2: 157,107,423		probably benign	Het
Scube1	T	A	15: 83,703,501	H89L	probably damaging	Het
Tmem59l	G	A	8: 70,485,665		probably benign	Het
Vmn2r108	A	G	17: 20,462,512	V810A	probably damaging	Het
Vmn2r61	T	G	7: 42,300,511	F785C	probably damaging	Het

Other mutations in Arsk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02537:Arsk	APN	13	76074906	nonsense	probably null
IGL02691:Arsk	APN	13	76074950	missense	probably damaging	0.98
IGL03038:Arsk	APN	13	76065513	splice site	probably benign
PIT4480001:Arsk	UTSW	13	76062365	missense	probably damaging	1.00
R0277:Arsk	UTSW	13	76074932	missense	probably benign	0.01
R0900:Arsk	UTSW	13	76098457	unclassified	probably benign
R1441:Arsk	UTSW	13	76074964	missense	probably benign	0.01
R1748:Arsk	UTSW	13	76062410	missense	probably benign	0.15
R1923:Arsk	UTSW	13	76066866	splice site	probably benign
R2131:Arsk	UTSW	13	76091812	nonsense	probably null
R3723:Arsk	UTSW	13	76066653	missense	probably damaging	0.98
R4088:Arsk	UTSW	13	76098414	missense	probably benign
R4851:Arsk	UTSW	13	76065279	critical splice donor site	probably null
R5406:Arsk	UTSW	13	76093947	missense	probably benign
R5629:Arsk	UTSW	13	76093908	missense	probably damaging	1.00
R5869:Arsk	UTSW	13	76091784	missense	probably benign	0.29
R6217:Arsk	UTSW	13	76091816	missense	unknown
R6552:Arsk	UTSW	13	76072196	missense	probably damaging	0.99
R6560:Arsk	UTSW	13	76074986	missense	probably benign	0.33
R6726:Arsk	UTSW	13	76074788	missense	probably damaging	1.00
R7421:Arsk	UTSW	13	76062515	missense	possibly damaging	0.81
R8178:Arsk	UTSW	13	76091742	missense	probably damaging	1.00
R8274:Arsk	UTSW	13	76072184	missense	probably damaging	1.00
R8503:Arsk	UTSW	13	76091711	nonsense	probably null
X0050:Arsk	UTSW	13	76065280	missense	probably null	0.78
X0066:Arsk	UTSW	13	76062456	missense	probably benign	0.02

Posted On

2013-04-17