Mutagenetix > Incidental Mutations

Incidental Mutation 'R2402:Arsi'

248786

Institutional Source

Beutler Lab

Gene Symbol

Arsi

Ensembl Gene

ENSMUSG00000036412

Gene Name

arylsulfatase i

Synonyms

MMRRC Submission

040368-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R2402 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

60911780-60918561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60916467 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 141 (S141P)

Ref Sequence

ENSEMBL: ENSMUSP00000043966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040359]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040359
AA Change: S141P

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043966
Gene: ENSMUSG00000036412
AA Change: S141P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Sulfatase	47	360	8.2e-73	PFAM
low complexity region	526	537	N/A	INTRINSIC
low complexity region	547	556	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.6%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 86,509,141	D1199V	probably damaging	Het
Abcc6	A	T	7: 46,015,575	S277R	probably benign	Het
Acvrl1	A	G	15: 101,137,399	S269G	probably damaging	Het
Aes	T	A	10: 81,564,878	C89S	possibly damaging	Het
Akap10	T	C	11: 61,915,222	S227G	probably benign	Het
Angptl8	T	C	9: 21,835,816		probably null	Het
Atic	T	A	1: 71,569,057	Y303*	probably null	Het
Bbs9	C	T	9: 22,646,063	P510L	probably benign	Het
Bcl2a1b	A	G	9: 89,199,742	N128S	probably benign	Het
Bcl2a1d	A	T	9: 88,731,496	M75K	probably damaging	Het
Carm1	T	A	9: 21,583,540	L324Q	probably damaging	Het
Caskin1	T	A	17: 24,503,808	L550Q	probably damaging	Het
Cd302	A	G	2: 60,257,068	I142T	probably benign	Het
Cep350	A	T	1: 155,863,136	D2320E	probably benign	Het
Cgnl1	A	G	9: 71,725,179	S297P	probably damaging	Het
Cr1l	T	A	1: 195,106,902	Y398F	probably benign	Het
Ctsa	A	T	2: 164,834,893	D145V	probably benign	Het
Ctsj	C	T	13: 61,000,574	G303D	probably damaging	Het
Dnah17	T	C	11: 118,125,974	I250M	probably benign	Het
Doc2a	C	A	7: 126,848,747	C54*	probably null	Het
Dpy19l2	T	C	9: 24,581,248	T685A	probably damaging	Het
Dtna	T	A	18: 23,595,478	C243*	probably null	Het
Exoc3l4	A	G	12: 111,422,256	T60A	possibly damaging	Het
Exph5	C	A	9: 53,374,925	S1102*	probably null	Het
Fam129a	A	G	1: 151,689,614	T232A	probably benign	Het
Fhl3	T	C	4: 124,705,688	Y19H	probably damaging	Het
Flt4	A	G	11: 49,637,819	E1012G	possibly damaging	Het
Flvcr2	A	G	12: 85,783,003	N262S	probably benign	Het
Gon4l	G	T	3: 88,859,043	C463F	probably damaging	Het
H2-T10	A	T	17: 36,117,739		probably null	Het
Heatr3	T	C	8: 88,144,572	C185R	probably benign	Het
Hectd1	A	G	12: 51,745,534	V2474A	probably benign	Het
Htr3a	C	T	9: 48,901,495	E215K	probably damaging	Het
Ica1l	T	C	1: 60,006,292	T271A	probably benign	Het
Klra2	A	G	6: 131,243,901	I66T	probably benign	Het
Neto2	T	C	8: 85,690,912	K21R	probably benign	Het
Nisch	T	A	14: 31,185,014		probably benign	Het
Nr4a1	G	T	15: 101,271,737	R296L	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr832	T	A	9: 18,945,200	I184N	probably damaging	Het
Olfr914	T	C	9: 38,607,101	V212A	probably benign	Het
Pcsk5	A	T	19: 17,474,834	C1102*	probably null	Het
Phip	C	T	9: 82,875,305	A1605T	probably benign	Het
Pstpip2	T	A	18: 77,854,864	M105K	possibly damaging	Het
Qprt	C	T	7: 127,108,360	V219I	probably benign	Het
Ralgapa2	A	T	2: 146,353,192	N1271K	probably damaging	Het
Reg3g	A	T	6: 78,467,492	L106H	probably damaging	Het
Rhobtb1	G	A	10: 69,270,424	G273D	probably benign	Het
Rimbp2	T	C	5: 128,784,888	D771G	probably damaging	Het
Sos2	T	C	12: 69,596,799	I935V	possibly damaging	Het
Tcf12	A	T	9: 71,856,510	N397K	probably damaging	Het
Tgtp2	T	C	11: 49,059,130	Q205R	probably benign	Het
Tubb2b	T	C	13: 34,128,226	N195D	probably benign	Het
Unc13b	A	G	4: 43,095,843	T84A	probably benign	Het
Usb1	T	A	8: 95,343,131	F102L	probably benign	Het
Vmn2r61	A	G	7: 42,300,105	T650A	possibly damaging	Het
Zbtb41	G	T	1: 139,423,187	E13*	probably null	Het
Zbtb41	A	C	1: 139,423,185	D12A	probably benign	Het
Zfp821	C	T	8: 109,721,240	S71F	probably damaging	Het

Other mutations in Arsi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Arsi	APN	18	60912430	missense	probably damaging	1.00
IGL02519:Arsi	APN	18	60917067	missense	probably damaging	1.00
IGL03186:Arsi	APN	18	60917473	missense	probably damaging	1.00
IGL03134:Arsi	UTSW	18	60917352	missense	probably damaging	1.00
R0003:Arsi	UTSW	18	60916986	missense	probably benign	0.29
R0003:Arsi	UTSW	18	60916986	missense	probably benign	0.29
R0448:Arsi	UTSW	18	60917302	missense	probably damaging	0.98
R1147:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1147:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1148:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1148:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1190:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1261:Arsi	UTSW	18	60916671	missense	probably damaging	1.00
R1511:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1538:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1635:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1641:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1759:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1794:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1822:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1824:Arsi	UTSW	18	60912297	missense	probably damaging	1.00
R1824:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1930:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1932:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R1983:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2035:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2036:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2108:Arsi	UTSW	18	60916371	missense	possibly damaging	0.75
R2166:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2168:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2261:Arsi	UTSW	18	60916665	missense	probably damaging	1.00
R2263:Arsi	UTSW	18	60916665	missense	probably damaging	1.00
R2299:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2300:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2393:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2484:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2511:Arsi	UTSW	18	60916594	missense	probably damaging	1.00
R2994:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2995:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2996:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R2997:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R3625:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R3694:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R3695:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R3883:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R3884:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R3907:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R3932:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R3954:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4212:Arsi	UTSW	18	60916701	missense	probably damaging	1.00
R4256:Arsi	UTSW	18	60917316	missense	probably damaging	1.00
R4257:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4258:Arsi	UTSW	18	60917316	missense	probably damaging	1.00
R4459:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4469:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4601:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4603:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4610:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4649:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4649:Arsi	UTSW	18	60917098	missense	probably damaging	1.00
R4650:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4651:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4652:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4749:Arsi	UTSW	18	60917461	missense	probably benign	0.23
R4766:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4807:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4808:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4856:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4860:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4860:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R4886:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R5015:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R5121:Arsi	UTSW	18	60917439	missense	probably damaging	1.00
R5185:Arsi	UTSW	18	60916912	missense	probably damaging	1.00
R6191:Arsi	UTSW	18	60912472	missense	probably damaging	1.00
R6197:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R6218:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R6219:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R6220:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R6378:Arsi	UTSW	18	60916501	missense	probably damaging	1.00
R6612:Arsi	UTSW	18	60912456	missense	probably benign	0.12
R6871:Arsi	UTSW	18	60916651	missense	probably benign	0.07
R7813:Arsi	UTSW	18	60916654	missense	possibly damaging	0.58
R7974:Arsi	UTSW	18	60912406	missense	probably damaging	1.00
R8035:Arsi	UTSW	18	60916370	missense	probably damaging	1.00
Z1176:Arsi	UTSW	18	60916780	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTCAGGGTGCAACTAGGG -3'
(R):5'- GAGCATAGTGGAGTACTGGC -3'

Sequencing Primer
(F):5'- AACTAGGGGTTGCTGATTGGGAAC -3'
(R):5'- CATAGTGGAGTACTGGCCGCTG -3'

Posted On

2014-11-11