Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4480001:Arsk'

554883

Institutional Source

Beutler Lab

Gene Symbol

Arsk

Ensembl Gene

ENSMUSG00000021592

Gene Name

arylsulfatase K

Synonyms

2810429K17Rik, 4833414G15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4480001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76208829-76246744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76210484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 521 (E521G)

Ref Sequence

ENSEMBL: ENSMUSP00000113274 (fasta)

Gene Model

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

AlphaFold

Q9D2L1

Predicted Effect

probably damaging
Transcript: ENSMUST00000120573
AA Change: E521G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: E521G

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

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 83.8%
20x: 69.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	G	A	19: 4,917,605 (GRCm39)	Q413*	probably null	Het
Ahnak2	C	T	12: 112,740,358 (GRCm39)	S1238N	possibly damaging	Het
Baiap2	A	G	11: 119,887,913 (GRCm39)	T356A	probably benign	Het
Baz1b	G	A	5: 135,246,819 (GRCm39)	R756H	probably damaging	Het
Celsr1	G	A	15: 85,916,615 (GRCm39)	P453S	probably damaging	Het
Cep41	G	A	6: 30,658,412 (GRCm39)	P196S	probably damaging	Het
Cln5	T	A	14: 103,309,214 (GRCm39)	Y89*	probably null	Het
Cntnap3	A	G	13: 64,905,024 (GRCm39)	F919S	probably damaging	Het
Cntrl	C	T	2: 35,045,440 (GRCm39)	H1383Y	probably damaging	Het
Cobl	A	G	11: 12,203,592 (GRCm39)	S1037P	probably benign	Het
Col17a1	A	T	19: 47,659,813 (GRCm39)	S380T	probably benign	Het
Cyrib	G	A	15: 63,828,490 (GRCm39)	T11I	probably benign	Het
Dagla	A	T	19: 10,238,022 (GRCm39)	S323T	probably benign	Het
Dicer1	G	T	12: 104,662,803 (GRCm39)	Q1593K	probably benign	Het
Dnah6	T	C	6: 73,078,863 (GRCm39)	I2367V	probably benign	Het
Emc1	T	C	4: 139,086,588 (GRCm39)	S184P	possibly damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Erbb4	A	T	1: 68,114,702 (GRCm39)	M914K	probably damaging	Het
Eva1a	A	G	6: 82,068,784 (GRCm39)	E37G	probably damaging	Het
Fyco1	G	T	9: 123,657,715 (GRCm39)	Y820*	probably null	Het
Gipr	T	C	7: 18,896,859 (GRCm39)	Y137C	probably damaging	Het
Gm5414	A	G	15: 101,536,181 (GRCm39)	V148A	probably damaging	Het
Gpn1	T	C	5: 31,654,685 (GRCm39)	V79A	probably damaging	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Inpp4b	A	C	8: 82,772,896 (GRCm39)	E730A	probably damaging	Het
Inpp5f	C	T	7: 128,286,858 (GRCm39)	T579I	probably benign	Het
Kif15	A	T	9: 122,840,608 (GRCm39)	M1201L	probably benign	Het
Ltbp3	A	G	19: 5,801,254 (GRCm39)	N631S	possibly damaging	Het
Mdh1	G	A	11: 21,508,538 (GRCm39)	S268L	probably damaging	Het
Mgat4e	T	A	1: 134,469,103 (GRCm39)	T314S	possibly damaging	Het
Nsd1	A	G	13: 55,361,731 (GRCm39)	Q233R	probably benign	Het
Or11g1	T	C	14: 50,651,372 (GRCm39)	F124L	probably benign	Het
Or5w17	T	C	2: 87,584,127 (GRCm39)	D70G	possibly damaging	Het
Paqr5	T	A	9: 61,863,438 (GRCm39)	I295L	probably benign	Het
Peg10	C	T	6: 4,756,560 (GRCm39)	H379Y	unknown	Het
Phtf2	A	T	5: 21,018,242 (GRCm39)	I33N	probably damaging	Het
Plcb2	T	C	2: 118,553,977 (GRCm39)	M115V	probably benign	Het
Ppp2r3d	A	G	9: 101,003,576 (GRCm39)	Y431H	possibly damaging	Het
Prph2	GT	G	17: 47,222,039 (GRCm39)		probably null	Het
Psmd1	C	T	1: 86,055,960 (GRCm39)	P774L	probably damaging	Het
Ranbp17	A	T	11: 33,247,340 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,304,977 (GRCm39)	D770G	possibly damaging	Het
Serac1	A	G	17: 6,101,087 (GRCm39)	L439P	probably damaging	Het
Slitrk6	TTTTAGTCTGTTCTACCAACACCTT	TTT	14: 110,987,257 (GRCm39)		probably null	Het
Sox6	T	C	7: 115,196,744 (GRCm39)	I295M	probably benign	Het
Spata31h1	T	C	10: 82,119,586 (GRCm39)	M4475V	probably benign	Het
Sulf1	T	A	1: 12,929,637 (GRCm39)	D301E	probably benign	Het
Tas2r117	G	A	6: 132,780,014 (GRCm39)	V51I	possibly damaging	Het
Tbx2	C	T	11: 85,725,561 (GRCm39)	R171C	probably damaging	Het
Tgfbr1	A	G	4: 47,402,955 (GRCm39)	I320V	probably benign	Het
Tjp3	C	A	10: 81,115,091 (GRCm39)	G396W	probably damaging	Het
Tmprss2	T	C	16: 97,400,460 (GRCm39)	N4D	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,071 (GRCm39)	N165D	probably benign	Het
Tnfrsf21	A	T	17: 43,348,802 (GRCm39)	Y138F	probably benign	Het
Utp4	T	C	8: 107,632,817 (GRCm39)	S267P	probably benign	Het
Wnk1	A	T	6: 119,940,328 (GRCm39)	L803*	probably null	Het
Zbbx	T	A	3: 75,043,794 (GRCm39)	D35V	probably damaging	Het
Zscan12	T	G	13: 21,552,744 (GRCm39)	N189K	possibly damaging	Het

Other mutations in Arsk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Arsk	APN	13	76,246,487 (GRCm39)	splice site	probably null
IGL02537:Arsk	APN	13	76,223,025 (GRCm39)	nonsense	probably null
IGL02691:Arsk	APN	13	76,223,069 (GRCm39)	missense	probably damaging	0.98
IGL03038:Arsk	APN	13	76,213,632 (GRCm39)	splice site	probably benign
R0277:Arsk	UTSW	13	76,223,051 (GRCm39)	missense	probably benign	0.01
R0900:Arsk	UTSW	13	76,246,576 (GRCm39)	unclassified	probably benign
R1441:Arsk	UTSW	13	76,223,083 (GRCm39)	missense	probably benign	0.01
R1748:Arsk	UTSW	13	76,210,529 (GRCm39)	missense	probably benign	0.15
R1923:Arsk	UTSW	13	76,214,985 (GRCm39)	splice site	probably benign
R2131:Arsk	UTSW	13	76,239,931 (GRCm39)	nonsense	probably null
R3723:Arsk	UTSW	13	76,214,772 (GRCm39)	missense	probably damaging	0.98
R4088:Arsk	UTSW	13	76,246,533 (GRCm39)	missense	probably benign
R4851:Arsk	UTSW	13	76,213,398 (GRCm39)	critical splice donor site	probably null
R5406:Arsk	UTSW	13	76,242,066 (GRCm39)	missense	probably benign
R5629:Arsk	UTSW	13	76,242,027 (GRCm39)	missense	probably damaging	1.00
R5869:Arsk	UTSW	13	76,239,903 (GRCm39)	missense	probably benign	0.29
R6217:Arsk	UTSW	13	76,239,935 (GRCm39)	missense	unknown
R6552:Arsk	UTSW	13	76,220,315 (GRCm39)	missense	probably damaging	0.99
R6560:Arsk	UTSW	13	76,223,105 (GRCm39)	missense	probably benign	0.33
R6726:Arsk	UTSW	13	76,222,907 (GRCm39)	missense	probably damaging	1.00
R7421:Arsk	UTSW	13	76,210,634 (GRCm39)	missense	possibly damaging	0.81
R8178:Arsk	UTSW	13	76,239,861 (GRCm39)	missense	probably damaging	1.00
R8274:Arsk	UTSW	13	76,220,303 (GRCm39)	missense	probably damaging	1.00
R8503:Arsk	UTSW	13	76,239,830 (GRCm39)	nonsense	probably null
R8743:Arsk	UTSW	13	76,214,928 (GRCm39)	missense	probably damaging	0.99
R9517:Arsk	UTSW	13	76,210,638 (GRCm39)	missense	probably damaging	1.00
R9619:Arsk	UTSW	13	76,223,151 (GRCm39)	missense	probably damaging	1.00
R9644:Arsk	UTSW	13	76,220,227 (GRCm39)	missense	probably damaging	0.97
X0050:Arsk	UTSW	13	76,213,399 (GRCm39)	missense	probably null	0.78
X0066:Arsk	UTSW	13	76,210,575 (GRCm39)	missense	probably benign	0.02
Z1192:Arsk	UTSW	13	76,246,637 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGATGCTAACCACTGGTG -3'
(R):5'- ATCCGGATGAGCTAACAAACATTG -3'

Sequencing Primer
(F):5'- CACTGGTGGACTGGAGAAG -3'
(R):5'- ACTTATTCTTTGGACCAGAAGCTTCG -3'

Posted On

2019-06-07