Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02519:Arsi'

296893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arsi

Ensembl Gene

ENSMUSG00000036412

Gene Name

arylsulfatase i

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02519

Quality Score

Status

Chromosome

Chromosomal Location

61045063-61051633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61050139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 341 (S341G)

Ref Sequence

ENSEMBL: ENSMUSP00000043966 (fasta)

Gene Model

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

AlphaFold

Q32KI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040359
AA Change: S341G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043966
Gene: ENSMUSG00000036412
AA Change: S341G

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	T	2: 26,868,687 (GRCm39)	I224F	probably damaging	Het
Adamts17	A	G	7: 66,774,721 (GRCm39)	T947A	possibly damaging	Het
Ankfn1	T	C	11: 89,296,504 (GRCm39)	E75G	probably benign	Het
Arfgef1	G	T	1: 10,279,893 (GRCm39)	H225N	probably benign	Het
Aspm	T	A	1: 139,389,665 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 36,949,464 (GRCm39)	E370G	probably damaging	Het
Cacna1i	C	T	15: 80,246,075 (GRCm39)	R490*	probably null	Het
Cd33	C	T	7: 43,178,153 (GRCm39)		probably benign	Het
Clmn	T	C	12: 104,758,112 (GRCm39)	I135V	probably damaging	Het
Crebbp	A	T	16: 3,919,457 (GRCm39)	N795K	possibly damaging	Het
Dhps	A	G	8: 85,799,928 (GRCm39)	D126G	probably damaging	Het
Dlg2	G	T	7: 91,589,323 (GRCm39)	V196L	possibly damaging	Het
Dsg1c	T	A	18: 20,416,790 (GRCm39)	I897N	probably damaging	Het
Dzip3	A	G	16: 48,748,759 (GRCm39)	L1059S	probably damaging	Het
Epha7	A	T	4: 28,821,494 (GRCm39)	T220S	possibly damaging	Het
Fgf17	A	G	14: 70,875,968 (GRCm39)	I88T	probably damaging	Het
G3bp2	A	G	5: 92,214,383 (GRCm39)	V137A	possibly damaging	Het
Gnal	G	A	18: 67,221,836 (GRCm39)	E80K	unknown	Het
Hectd1	T	G	12: 51,815,894 (GRCm39)	S1393R	probably damaging	Het
Igsf6	T	C	7: 120,667,496 (GRCm39)	I173M	possibly damaging	Het
Il2ra	A	C	2: 11,687,901 (GRCm39)	E227A	possibly damaging	Het
Iqcf6	C	T	9: 106,504,479 (GRCm39)	R48C	probably damaging	Het
Kdm3a	G	T	6: 71,588,570 (GRCm39)	Q480K	probably benign	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Magea6	T	C	X: 153,707,741 (GRCm39)	D105G	probably benign	Het
Nop53	C	A	7: 15,673,197 (GRCm39)		probably benign	Het
Or14a260	A	T	7: 85,984,789 (GRCm39)	F272I	probably benign	Het
Or1j10	T	C	2: 36,267,325 (GRCm39)	L179P	possibly damaging	Het
Pgghg	A	G	7: 140,524,894 (GRCm39)	T352A	possibly damaging	Het
Setd2	T	C	9: 110,382,184 (GRCm39)	S1464P	probably damaging	Het
Sspo	C	A	6: 48,461,762 (GRCm39)	T3609N	probably damaging	Het
Sulf1	T	A	1: 12,908,587 (GRCm39)	Y533*	probably null	Het
Thsd7b	A	G	1: 129,540,932 (GRCm39)	S346G	probably benign	Het
Tmem161b	T	A	13: 84,442,863 (GRCm39)	L261Q	probably damaging	Het
Tmem63b	T	A	17: 45,976,134 (GRCm39)	T493S	possibly damaging	Het
Tmprss11d	A	T	5: 86,454,164 (GRCm39)	C214S	probably damaging	Het
Trim16	A	T	11: 62,724,905 (GRCm39)	E144V	possibly damaging	Het
Unc13d	T	C	11: 115,961,359 (GRCm39)	Y356C	probably damaging	Het
Urgcp	A	T	11: 5,667,745 (GRCm39)	F198I	probably benign	Het
Vmn2r111	T	C	17: 22,767,320 (GRCm39)	I726V	possibly damaging	Het
Zzz3	A	T	3: 152,133,027 (GRCm39)	E28D	probably damaging	Het

Other mutations in Arsi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Arsi	APN	18	61,045,502 (GRCm39)	missense	probably damaging	1.00
IGL03186:Arsi	APN	18	61,050,545 (GRCm39)	missense	probably damaging	1.00
IGL03134:Arsi	UTSW	18	61,050,424 (GRCm39)	missense	probably damaging	1.00
R0003:Arsi	UTSW	18	61,050,058 (GRCm39)	missense	probably benign	0.29
R0003:Arsi	UTSW	18	61,050,058 (GRCm39)	missense	probably benign	0.29
R0448:Arsi	UTSW	18	61,050,374 (GRCm39)	missense	probably damaging	0.98
R1147:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1147:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1148:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1148:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1190:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1261:Arsi	UTSW	18	61,049,743 (GRCm39)	missense	probably damaging	1.00
R1511:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1538:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1635:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1641:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1759:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1794:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1822:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1824:Arsi	UTSW	18	61,045,369 (GRCm39)	missense	probably damaging	1.00
R1824:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1930:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1932:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R1983:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2035:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2036:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2108:Arsi	UTSW	18	61,049,443 (GRCm39)	missense	possibly damaging	0.75
R2166:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2168:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2261:Arsi	UTSW	18	61,049,737 (GRCm39)	missense	probably damaging	1.00
R2263:Arsi	UTSW	18	61,049,737 (GRCm39)	missense	probably damaging	1.00
R2299:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2300:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2393:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2402:Arsi	UTSW	18	61,049,539 (GRCm39)	missense	possibly damaging	0.88
R2484:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2511:Arsi	UTSW	18	61,049,666 (GRCm39)	missense	probably damaging	1.00
R2994:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2995:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2996:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R2997:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R3625:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R3694:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R3695:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R3883:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R3884:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R3907:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R3932:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R3954:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4212:Arsi	UTSW	18	61,049,773 (GRCm39)	missense	probably damaging	1.00
R4256:Arsi	UTSW	18	61,050,388 (GRCm39)	missense	probably damaging	1.00
R4257:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4258:Arsi	UTSW	18	61,050,388 (GRCm39)	missense	probably damaging	1.00
R4459:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4469:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4601:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4603:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4610:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4649:Arsi	UTSW	18	61,050,170 (GRCm39)	missense	probably damaging	1.00
R4649:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4650:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4651:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4652:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4749:Arsi	UTSW	18	61,050,533 (GRCm39)	missense	probably benign	0.23
R4766:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4807:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4808:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4856:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4860:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4860:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R4886:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R5015:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R5121:Arsi	UTSW	18	61,050,511 (GRCm39)	missense	probably damaging	1.00
R5185:Arsi	UTSW	18	61,049,984 (GRCm39)	missense	probably damaging	1.00
R6191:Arsi	UTSW	18	61,045,544 (GRCm39)	missense	probably damaging	1.00
R6197:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R6218:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R6219:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R6220:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R6378:Arsi	UTSW	18	61,049,573 (GRCm39)	missense	probably damaging	1.00
R6612:Arsi	UTSW	18	61,045,528 (GRCm39)	missense	probably benign	0.12
R6871:Arsi	UTSW	18	61,049,723 (GRCm39)	missense	probably benign	0.07
R7813:Arsi	UTSW	18	61,049,726 (GRCm39)	missense	possibly damaging	0.58
R7974:Arsi	UTSW	18	61,045,478 (GRCm39)	missense	probably damaging	1.00
R8035:Arsi	UTSW	18	61,049,442 (GRCm39)	missense	probably damaging	1.00
R9162:Arsi	UTSW	18	61,050,569 (GRCm39)	missense	probably damaging	0.96
R9200:Arsi	UTSW	18	61,049,836 (GRCm39)	missense	possibly damaging	0.87
R9581:Arsi	UTSW	18	61,050,160 (GRCm39)	missense	probably damaging	1.00
Z1176:Arsi	UTSW	18	61,049,852 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16