Mutagenetix > Incidental Mutations

Incidental Mutation 'R5869:Arsk'

454350

Institutional Source

Beutler Lab

Gene Symbol

Arsk

Ensembl Gene

ENSMUSG00000021592

Gene Name

arylsulfatase K

Synonyms

MMRRC Submission

044077-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5869 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

76060422-76098660 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76091784 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 100 (E100G)

Ref Sequence

ENSEMBL: ENSMUSP00000113274 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120573
AA Change: E100G

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: E100G

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

noncoding transcript
Transcript: ENSMUST00000224632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224884

Meta Mutation Damage Score

0.1029

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

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
Adarb1	T	C	10: 77,325,616		probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Aspscr1	T	C	11: 120,688,920	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,940		probably benign	Het
Calm5	T	A	13: 3,854,321		probably benign	Het
Car5a	G	A	8: 121,916,380	T295I	probably benign	Het
Ccdc174	T	A	6: 91,885,418		probably benign	Het
Celsr2	G	A	3: 108,413,909	A529V	probably damaging	Het
Cep192	A	G	18: 67,815,864	D252G	probably benign	Het
Clcnka	A	G	4: 141,394,965	F217L	probably benign	Het
Cnot3	A	T	7: 3,644,930		probably benign	Het
Coro1c	A	G	5: 113,850,846		probably benign	Het
Cstf3	A	G	2: 104,659,240		probably null	Het
Dcdc2a	C	T	13: 25,107,730	P233S	probably benign	Het
Ddx55	A	G	5: 124,568,682	T581A	probably benign	Het
Exo1	T	C	1: 175,901,283	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,029,430	E616G	possibly damaging	Het
Fignl2	T	C	15: 101,053,280	S374G	unknown	Het
Gm4799	A	T	10: 82,954,449		noncoding transcript	Het
Hectd4	T	C	5: 121,343,225		probably null	Het
Ighv1-76	T	C	12: 115,848,038	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,323,235	H465Q	probably benign	Het
Itga9	A	G	9: 118,663,889	D284G	probably damaging	Het
Itpr1	T	C	6: 108,473,529	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,188,071	S185P	probably benign	Het
Kif20a	G	A	18: 34,632,415	A822T	probably benign	Het
Krt1	A	T	15: 101,850,131	F199L	probably damaging	Het
Lpin2	A	G	17: 71,232,276		probably benign	Het
Lrp1b	A	C	2: 41,004,603	D2204E	probably damaging	Het
Mier3	T	A	13: 111,714,850	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446		probably benign	Het
Mroh3	T	A	1: 136,186,123	M643L	probably benign	Het
Myh11	A	G	16: 14,230,800	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,808,523	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,548,134	R179Q	probably damaging	Het
Nup88	T	C	11: 70,969,671	E94G	probably benign	Het
Pias1	A	T	9: 62,912,766	D306E	probably benign	Het
Pick1	A	G	15: 79,248,895	D385G	probably benign	Het
Pitx3	A	T	19: 46,137,296		probably benign	Het
Plpp3	T	A	4: 105,194,962		probably null	Het
Prlhr	C	A	19: 60,467,621	R169L	probably damaging	Het
Ptprf	A	C	4: 118,210,382	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,601,940	D35G	probably benign	Het
Rnf130	A	G	11: 50,085,815		probably null	Het
Rnf17	A	C	14: 56,505,988	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,851,882	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,498,117	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,684,459	V855G	probably benign	Het
Slc5a5	C	A	8: 70,892,330	R111L	probably damaging	Het
Spg20	A	T	3: 55,135,510	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,687	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,266,562	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 154,926,598		probably null	Het
Tnfrsf19	C	T	14: 60,971,178	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,958,792	K809E	probably benign	Het
Ttn	G	A	2: 76,750,209	P23447S	probably damaging	Het
Uap1	T	A	1: 170,151,138		probably null	Het
Wdr82	A	G	9: 106,185,304	Q252R	probably benign	Het
Zfp523	T	C	17: 28,194,993	I34T	probably benign	Het
Zfp808	T	A	13: 62,171,255	H99Q	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
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

Predicted Primers

PCR Primer
(F):5'- GCCATTGAATGTGCGACAGAG -3'
(R):5'- CTGGTGGCATTTCATATTCCAG -3'

Sequencing Primer
(F):5'- CGACAGAGGACGGTGTGTG -3'
(R):5'- GTGGCATTTCATATTCCAGACCACAG -3'

Posted On

2017-02-10