Mutagenetix > Incidental Mutation

Incidental Mutation 'R2166:Arsi'

235516

Institutional Source

Beutler Lab

Gene Symbol

Arsi

Ensembl Gene

ENSMUSG00000036412

Gene Name

arylsulfatase i

Synonyms

MMRRC Submission

040169-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2166 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61045063-61051633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61049723 bp (GRCm39)

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (42/42)

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
Adgrv1	A	T	13: 81,716,762 (GRCm39)	F779I	probably damaging	Het
Birc6	A	T	17: 74,942,790 (GRCm39)	T2761S	probably benign	Het
Cav1	A	T	6: 17,339,430 (GRCm39)	I141F	possibly damaging	Het
Cmklr2	A	G	1: 63,223,107 (GRCm39)	F43L	probably benign	Het
Gm973	A	G	1: 59,565,898 (GRCm39)	D39G	possibly damaging	Het
Gucy1a2	T	A	9: 3,579,513 (GRCm39)		probably null	Het
Il1b	A	T	2: 129,206,968 (GRCm39)	M264K	probably damaging	Het
Itpr1	A	G	6: 108,365,186 (GRCm39)	Y38C	probably damaging	Het
Kcnb2	A	C	1: 15,781,540 (GRCm39)	D804A	possibly damaging	Het
Kcnt1	T	A	2: 25,781,195 (GRCm39)		probably benign	Het
Krt6b	T	C	15: 101,587,050 (GRCm39)		probably null	Het
Mef2a	A	G	7: 66,915,870 (GRCm39)	V144A	probably damaging	Het
Mroh3	A	G	1: 136,113,791 (GRCm39)	M666T	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nalcn	T	A	14: 123,607,363 (GRCm39)	Y702F	probably benign	Het
Napepld	T	A	5: 21,888,230 (GRCm39)	K73I	possibly damaging	Het
Or5h23	T	A	16: 58,905,949 (GRCm39)	K299I	probably benign	Het
Or8g21	G	A	9: 38,906,513 (GRCm39)	Q73*	probably null	Het
Pappa	A	C	4: 65,074,682 (GRCm39)	D412A	probably damaging	Het
Plbd1	A	G	6: 136,590,788 (GRCm39)		probably null	Het
Ppp1r10	G	T	17: 36,241,481 (GRCm39)	R752L	unknown	Het
Prep	T	C	10: 44,968,751 (GRCm39)		probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptprz1	A	G	6: 23,045,632 (GRCm39)	N2134S	possibly damaging	Het
Rhbdl3	A	G	11: 80,210,523 (GRCm39)	Y92C	probably damaging	Het
Rtkn2	T	C	10: 67,877,526 (GRCm39)	S532P	possibly damaging	Het
Rtl1	T	A	12: 109,556,988 (GRCm39)	H1617L	probably damaging	Het
Skint6	T	A	4: 112,711,649 (GRCm39)	N956I	probably benign	Het
Slc13a2	A	G	11: 78,293,901 (GRCm39)	V287A	probably benign	Het
Slc9a2	A	G	1: 40,781,928 (GRCm39)	K386E	probably damaging	Het
Spata20	G	A	11: 94,369,930 (GRCm39)	H789Y	probably benign	Het
Stk19	A	G	17: 35,051,486 (GRCm39)	I23T	possibly damaging	Het
Tonsl	A	G	15: 76,521,513 (GRCm39)	I293T	probably benign	Het
Topbp1	A	G	9: 103,190,128 (GRCm39)		probably null	Het
Trappc2l	T	A	8: 123,339,901 (GRCm39)	S44T	probably benign	Het
Tsr1	A	G	11: 74,798,280 (GRCm39)		probably null	Het
Ugdh	A	G	5: 65,574,357 (GRCm39)		probably benign	Het
Unc119	A	G	11: 78,238,161 (GRCm39)		probably null	Het
Zkscan14	G	A	5: 145,132,944 (GRCm39)	P196S	probably benign	Het
Zmat4	T	C	8: 24,392,152 (GRCm39)	L36P	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
IGL02519:Arsi	APN	18	61,050,139 (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
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

Predicted Primers

PCR Primer
(F):5'- CCATACAGGATTGCAGCACTCC -3'
(R):5'- TCACCATGGCTGCGTACTTG -3'

Sequencing Primer
(F):5'- AGGATTGCAGCACTCCATTATC -3'
(R):5'- TACTTGCGCCGTGCTACG -3'

Posted On

2014-10-01