Mutagenetix > Incidental Mutation

Incidental Mutation 'R1147:Arsi'

102505

Institutional Source

Beutler Lab

Gene Symbol

Arsi

Ensembl Gene

ENSMUSG00000036412

Gene Name

arylsulfatase i

Synonyms

MMRRC Submission

039220-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60911780-60918561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60916651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 202 (G202E)

Ref Sequence

ENSEMBL: ENSMUSP00000043966 (fasta)

Gene Model

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

AlphaFold

Q32KI9

Predicted Effect

probably benign
Transcript: ENSMUST00000040359
AA Change: G202E

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043966
Gene: ENSMUSG00000036412
AA Change: G202E

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

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 99.4%
3x: 97.7%
10x: 89.5%
20x: 66.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	G	1: 85,099,505	K113N	probably benign	Het
Adam20	T	C	8: 40,795,618	I255T	possibly damaging	Het
Aknad1	T	A	3: 108,752,541	N290K	possibly damaging	Het
Als2cr12	A	T	1: 58,669,463	Y215N	probably damaging	Het
Ano8	C	A	8: 71,482,017	V447F	probably damaging	Het
Ash1l	A	T	3: 88,984,887	M1358L	possibly damaging	Het
Ccdc110	A	G	8: 45,944,084	K837E	possibly damaging	Het
Cd19	T	A	7: 126,411,045	D384V	possibly damaging	Het
Ces1f	C	T	8: 93,258,281	V473I	possibly damaging	Het
Chd6	C	T	2: 160,990,271	E994K	probably damaging	Het
Col5a2	G	T	1: 45,376,771	N1405K	probably damaging	Het
Dnah7b	A	G	1: 46,340,266	D3720G	probably damaging	Het
Dsel	T	C	1: 111,862,209	T199A	possibly damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Hrg	G	T	16: 22,961,004	C344F	probably damaging	Het
Htt	T	C	5: 34,851,252	Y1462H	probably damaging	Het
Kcnh2	T	A	5: 24,324,387	I784F	probably damaging	Het
Kifc3	T	C	8: 95,137,918	T55A	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Olfr434	A	T	6: 43,217,212	T100S	probably damaging	Het
Olfr692	G	A	7: 105,369,277	R308Q	probably benign	Het
Oog3	A	G	4: 144,158,412	F318S	possibly damaging	Het
Pde5a	C	T	3: 122,794,313	T376M	probably damaging	Het
Pkhd1l1	A	G	15: 44,537,441	I2204V	probably null	Het
Ppp1r13l	A	G	7: 19,375,847	D731G	probably damaging	Het
Ptk6	C	T	2: 181,195,797	G443D	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,423,504	D749G	probably damaging	Het
Ralgapa1	A	T	12: 55,702,480	D1212E	probably damaging	Het
Rsad1	T	C	11: 94,544,140	Y290C	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc6a11	T	A	6: 114,244,870	I507N	possibly damaging	Het
Sybu	A	T	15: 44,746,255	F78I	probably damaging	Het
Tox	A	T	4: 6,823,055	N87K	possibly damaging	Het
Trrap	G	A	5: 144,804,766	G1308R	probably damaging	Het
Trub2	A	G	2: 29,787,632		probably benign	Het
Vmn2r114	A	T	17: 23,311,063	H123Q	probably benign	Het
Vmn2r15	T	A	5: 109,293,206	Y262F	probably damaging	Het
Vmn2r33	C	T	7: 7,554,145	E519K	probably benign	Het
Zfp106	A	T	2: 120,520,536	C1545S	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
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
R2402:Arsi	UTSW	18	60916467	missense	possibly damaging	0.88
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
R9162:Arsi	UTSW	18	60917497	missense	probably damaging	0.96
R9200:Arsi	UTSW	18	60916764	missense	possibly damaging	0.87
R9581:Arsi	UTSW	18	60917088	missense	probably damaging	1.00
Z1176:Arsi	UTSW	18	60916780	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15