Mutagenetix > Incidental Mutations

Incidental Mutation 'R6217:Arsk'

526351

Institutional Source

Beutler Lab

Gene Symbol

Arsk

Ensembl Gene

ENSMUSG00000021592

Gene Name

arylsulfatase K

Synonyms

MMRRC Submission

044350-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76060422-76098660 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76091816 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 46 (Q46L)

Ref Sequence

ENSEMBL: ENSMUSP00000153634 (fasta)

Gene Model

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

Predicted Effect

silent
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

unknown
Transcript: ENSMUST00000223579
AA Change: Q46L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224884

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	G	A	6: 40,926,085	P118S	possibly damaging	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
Adamts20	T	C	15: 94,338,715	D808G	probably benign	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Asnsd1	A	G	1: 53,348,028	F147L	probably benign	Het
Atp5a1	T	A	18: 77,781,356	S427T	probably benign	Het
Atp6v1b2	A	C	8: 69,109,878		probably null	Het
AU021092	T	A	16: 5,212,186	T322S	possibly damaging	Het
Bcl7c	A	T	7: 127,708,526	M1K	probably null	Het
Cacna1i	T	C	15: 80,389,132	V1673A	probably damaging	Het
Ccdc146	A	T	5: 21,317,902		probably null	Het
Cdc7	A	G	5: 106,972,794	D122G	probably damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,638,900		probably benign	Het
Chd3	T	A	11: 69,345,535	Q1950L	probably damaging	Het
Cutc	T	C	19: 43,759,997	L111S	probably damaging	Het
Cyp2j6	A	G	4: 96,518,161	F458L	probably damaging	Het
Ddhd1	T	C	14: 45,619,514		probably null	Het
Dstyk	T	C	1: 132,459,939	S804P	probably damaging	Het
Ech1	A	G	7: 28,831,836	D283G	possibly damaging	Het
Exosc10	A	G	4: 148,582,311		probably null	Het
Fam160b2	T	C	14: 70,591,758		probably null	Het
Fancg	A	C	4: 43,010,084	V5G	probably benign	Het
Fbxo11	A	G	17: 88,008,904	V394A	probably benign	Het
Fcmr	C	T	1: 130,878,323	R339W	probably damaging	Het
Fsip2	T	A	2: 82,988,418	L4832M	possibly damaging	Het
Gab1	A	G	8: 80,791,608	V125A	possibly damaging	Het
Gabrr1	A	T	4: 33,149,026		probably null	Het
Gon4l	T	C	3: 88,892,661	V871A	possibly damaging	Het
Hspg2	A	G	4: 137,540,248	T2056A	probably damaging	Het
Lrrc3	T	A	10: 77,901,009	T198S	probably benign	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Ltbr	C	T	6: 125,307,454	V342M	probably damaging	Het
Muc16	A	T	9: 18,655,446	S1926T	unknown	Het
Ntn1	C	A	11: 68,213,332	V497F	possibly damaging	Het
Olfr181	T	C	16: 58,926,514	D19G	probably benign	Het
Olfr700	A	T	7: 106,806,072	L130Q	probably damaging	Het
Olfr936	A	T	9: 39,046,743	*270R	probably null	Het
Osmr	T	C	15: 6,823,566	Y615C	probably damaging	Het
Pcdhgb2	T	C	18: 37,690,001	V15A	possibly damaging	Het
Pkd2l2	A	G	18: 34,414,680	N162S	probably benign	Het
Ppp1r12a	G	A	10: 108,240,184		probably null	Het
Prtg	C	T	9: 72,904,794	P899S	probably damaging	Het
Ptprn	A	T	1: 75,248,166	S912R	probably damaging	Het
Rex2	A	G	4: 147,057,474	T140A	possibly damaging	Het
Ryr2	T	G	13: 11,834,078	D339A	probably damaging	Het
Sf3b1	C	T	1: 55,007,518	R289H	probably damaging	Het
Slc17a9	A	G	2: 180,737,662	D309G	probably benign	Het
Slc4a10	A	G	2: 62,303,951	R1004G	probably benign	Het
Sprr2f	A	T	3: 92,366,059	Q55L	unknown	Het
Syne1	C	T	10: 5,293,761	G2801D	probably benign	Het
Tenm3	A	T	8: 48,293,665	V1026D	probably damaging	Het
Ticam1	A	T	17: 56,270,730	I455N	probably damaging	Het
Tmem161b	A	G	13: 84,251,244	I6M	possibly damaging	Het
Ubn1	A	G	16: 5,077,232	E714G	probably damaging	Het
Ush2a	T	G	1: 188,743,454		probably null	Het
Usp19	G	A	9: 108,500,144	V874M	probably damaging	Het
Vmn2r106	T	C	17: 20,268,239	T633A	probably benign	Het
Vmn2r75	A	T	7: 86,166,167		probably benign	Het
Zfyve27	T	C	19: 42,189,577	V386A	probably damaging	Het
Zscan20	A	T	4: 128,604,534	W24R	probably damaging	Het

Other mutations in Arsk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Arsk	APN	13	76098368	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCATTGAATGTGCGACAG -3'
(R):5'- TGGTGGCATTTCATATTCCAGACC -3'

Sequencing Primer
(F):5'- CCATTGAATGTGCGACAGAGGAC -3'
(R):5'- GGCATTTCATATTCCAGACCACAGAC -3'

Posted On

2018-06-25