Mutagenetix > Incidental Mutation

Incidental Mutation 'R7421:Arsk'

575686

Institutional Source

Beutler Lab

Gene Symbol

Arsk

Ensembl Gene

ENSMUSG00000021592

Gene Name

arylsulfatase K

Synonyms

2810429K17Rik, 4833414G15Rik

MMRRC Submission

045499-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7421 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76208829-76246744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76210634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 471 (I471S)

Ref Sequence

ENSEMBL: ENSMUSP00000113274 (fasta)

Gene Model

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

AlphaFold

Q9D2L1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120573
AA Change: I471S

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: I471S

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

Meta Mutation Damage Score

0.5320

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,397,915 (GRCm39)	I309T	possibly damaging	Het
Abca12	A	C	1: 71,286,295 (GRCm39)	L2513*	probably null	Het
Abca13	G	C	11: 9,460,463 (GRCm39)	V4158L	probably benign	Het
Acaca	A	G	11: 84,254,562 (GRCm39)	T1880A	possibly damaging	Het
Arhgap5	C	T	12: 52,564,783 (GRCm39)	R585C	probably benign	Het
Asb7	T	C	7: 66,309,868 (GRCm39)	D116G	probably damaging	Het
Atad2	A	G	15: 57,998,322 (GRCm39)	S17P	probably benign	Het
Atf5	T	C	7: 44,464,562 (GRCm39)	E10G	probably damaging	Het
B3gntl1	G	T	11: 121,515,004 (GRCm39)	P255T	probably benign	Het
Cacna1s	A	G	1: 136,014,540 (GRCm39)	N649S	probably damaging	Het
Ccnc	A	G	4: 21,743,291 (GRCm39)	Y192C	probably damaging	Het
Cd28	A	G	1: 60,802,459 (GRCm39)	N126S	probably benign	Het
Cep57	A	G	9: 13,721,969 (GRCm39)	S360P	possibly damaging	Het
Ces1e	C	T	8: 93,941,703 (GRCm39)	V257I	probably benign	Het
Chd1	A	G	17: 15,969,660 (GRCm39)	K913R	probably benign	Het
Cluap1	A	T	16: 3,758,657 (GRCm39)	D373V	probably damaging	Het
Cnmd	T	C	14: 79,882,947 (GRCm39)	I160V	probably benign	Het
Col6a4	G	A	9: 105,897,994 (GRCm39)	P1686S	probably damaging	Het
Coro7	G	T	16: 4,486,615 (GRCm39)	A186E	probably benign	Het
Cuta	T	C	17: 27,158,431 (GRCm39)		probably benign	Het
Dnah2	G	A	11: 69,383,631 (GRCm39)	H1098Y	probably benign	Het
Duox1	T	A	2: 122,153,711 (GRCm39)	C345S	probably damaging	Het
Ephb4	T	A	5: 137,352,687 (GRCm39)	I90K	possibly damaging	Het
Erich3	T	A	3: 154,439,198 (GRCm39)	M280K	probably damaging	Het
Fcer2a	T	A	8: 3,740,335 (GRCm39)	H4L	probably benign	Het
Grk1	A	T	8: 13,455,316 (GRCm39)	I67F	probably damaging	Het
Grm8	A	C	6: 27,762,476 (GRCm39)	S250A	possibly damaging	Het
H2-Q6	A	G	17: 35,644,204 (GRCm39)	E62G	possibly damaging	Het
Inppl1	C	T	7: 101,482,144 (GRCm39)	R144H	probably damaging	Het
Itga3	G	T	11: 94,959,681 (GRCm39)	P33Q	probably benign	Het
Itgax	G	A	7: 127,739,604 (GRCm39)	S672N	probably damaging	Het
Itpk1	A	T	12: 102,540,324 (GRCm39)	V253E	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Mrps7	T	C	11: 115,495,717 (GRCm39)	V85A	probably benign	Het
Muc2	T	C	7: 141,301,863 (GRCm39)	L427P		Het
Myef2	G	T	2: 124,952,537 (GRCm39)	Q185K	probably benign	Het
Or1e1b-ps1	G	T	11: 73,846,335 (GRCm39)	C273F	unknown	Het
Or4a76	T	A	2: 89,460,915 (GRCm39)	D109V	probably damaging	Het
Pcdh15	G	A	10: 74,289,897 (GRCm39)	M905I	possibly damaging	Het
Pgm5	C	T	19: 24,686,663 (GRCm39)	V515M	probably benign	Het
Pik3r1	A	G	13: 101,825,644 (GRCm39)	I381T	probably damaging	Het
Pla2g4f	A	G	2: 120,137,737 (GRCm39)	M341T	probably benign	Het
Prmt2	A	G	10: 76,056,912 (GRCm39)	F204L	probably benign	Het
Pwwp3a	T	A	10: 80,068,587 (GRCm39)	S244T	probably benign	Het
Rasa2	A	G	9: 96,493,500 (GRCm39)	V50A	unknown	Het
Scn7a	A	C	2: 66,505,876 (GRCm39)	I1671S	probably benign	Het
Sco2	G	A	15: 89,255,923 (GRCm39)	R244C	possibly damaging	Het
Skic3	A	T	13: 76,296,944 (GRCm39)	K1100N	probably benign	Het
Slfn1	A	G	11: 83,011,967 (GRCm39)	M28V	possibly damaging	Het
Slfn9	A	T	11: 82,872,197 (GRCm39)	C846*	probably null	Het
Slfn9	A	G	11: 82,878,562 (GRCm39)	I189T	probably damaging	Het
Svil	T	A	18: 5,056,109 (GRCm39)	S327R	probably benign	Het
Tcaf3	A	T	6: 42,573,776 (GRCm39)	N145K	probably benign	Het
Trarg1	G	A	11: 76,585,051 (GRCm39)	R147Q	unknown	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Upp2	G	T	2: 58,661,586 (GRCm39)	V130F	possibly damaging	Het
Vnn3	G	A	10: 23,741,666 (GRCm39)	A324T	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp39	A	T	11: 58,780,933 (GRCm39)	C610S	probably 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
PIT4480001:Arsk	UTSW	13	76,210,484 (GRCm39)	missense	probably damaging	1.00
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
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'- TCACTGGAGTAGGCTGCTAG -3'
(R):5'- GAATGCATACTGCCCATCTTAC -3'

Sequencing Primer
(F):5'- CTGCTAGCCAGTGGACTG -3'
(R):5'- TGCCCATCTTACACCAAGAAG -3'

Posted On

2019-10-07