Mutagenetix > Incidental Mutation

Incidental Mutation 'R2036:Arsi'

224695

Institutional Source

Beutler Lab

Gene Symbol

Arsi

Ensembl Gene

ENSMUSG00000036412

Gene Name

arylsulfatase i

Synonyms

MMRRC Submission

040043-MU

Accession Numbers

Essential gene?

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

Stock #

R2036 (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: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415H17Rik	C	T	11: 99,576,358 (GRCm39)	C3Y	unknown	Het
Abr	G	T	11: 76,343,176 (GRCm39)	T547K	probably benign	Het
Akr1c21	T	C	13: 4,626,305 (GRCm39)	Y110H	probably damaging	Het
Ankar	T	A	1: 72,705,689 (GRCm39)	K556*	probably null	Het
Anks1b	T	C	10: 90,805,715 (GRCm39)	V431A	probably damaging	Het
Ap5b1	T	C	19: 5,618,897 (GRCm39)	S106P	possibly damaging	Het
Arhgap17	T	C	7: 122,917,717 (GRCm39)	N156D	possibly damaging	Het
Arhgap35	T	C	7: 16,297,058 (GRCm39)	E669G	probably damaging	Het
Arhgap44	T	C	11: 64,932,318 (GRCm39)	M201V	possibly damaging	Het
Atg4c	C	T	4: 99,106,376 (GRCm39)	T112M	possibly damaging	Het
Bcl11a	A	T	11: 24,114,087 (GRCm39)	N477Y	possibly damaging	Het
Brinp3	A	T	1: 146,577,579 (GRCm39)	I205F	possibly damaging	Het
Capza2	T	C	6: 17,660,777 (GRCm39)	F159S	probably damaging	Het
Cd40	T	C	2: 164,904,221 (GRCm39)	C61R	probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdh23	A	G	10: 60,301,822 (GRCm39)	I415T	possibly damaging	Het
Clnk	A	T	5: 38,910,143 (GRCm39)		probably null	Het
Ctcfl	C	T	2: 172,943,778 (GRCm39)	R524Q	possibly damaging	Het
Cyb5r4	T	G	9: 86,924,932 (GRCm39)		probably benign	Het
Ddb1	T	A	19: 10,588,186 (GRCm39)		probably benign	Het
Ddx51	C	A	5: 110,804,491 (GRCm39)	Q526K	probably benign	Het
Dennd6a	A	T	14: 26,329,274 (GRCm39)	Q56L	probably damaging	Het
Dhdds	T	C	4: 133,698,410 (GRCm39)	E142G	probably damaging	Het
Dnai1	A	G	4: 41,632,225 (GRCm39)	H553R	probably damaging	Het
Fryl	T	C	5: 73,179,887 (GRCm39)	N2908S	probably benign	Het
Fryl	C	A	5: 73,265,305 (GRCm39)		probably null	Het
Fut9	A	G	4: 25,620,322 (GRCm39)	I164T	probably damaging	Het
Gba2	G	A	4: 43,568,118 (GRCm39)		probably benign	Het
Gm11627	C	T	11: 102,467,580 (GRCm39)	V33I	unknown	Het
Helz2	T	A	2: 180,879,272 (GRCm39)	H782L	probably benign	Het
Kcnmb3	A	G	3: 32,526,531 (GRCm39)	V220A	probably damaging	Het
Kif20a	T	C	18: 34,761,515 (GRCm39)	S303P	possibly damaging	Het
Kif22	A	T	7: 126,630,126 (GRCm39)	V470E	possibly damaging	Het
Majin	C	T	19: 6,263,342 (GRCm39)	T132M	probably benign	Het
Mboat7	A	G	7: 3,688,671 (GRCm39)		probably null	Het
Mkrn2	C	A	6: 115,588,875 (GRCm39)	P206Q	probably benign	Het
Mphosph9	G	A	5: 124,442,274 (GRCm39)	T358M	probably damaging	Het
Nkd1	A	G	8: 89,318,305 (GRCm39)	D210G	probably damaging	Het
Or4c110	C	T	2: 88,831,976 (GRCm39)	V219I	probably damaging	Het
Or4k41	T	A	2: 111,279,971 (GRCm39)	L162Q	possibly damaging	Het
Or5ae2	G	T	7: 84,505,566 (GRCm39)		probably benign	Het
Or5b95	G	C	19: 12,658,165 (GRCm39)	G231A	probably damaging	Het
Or5p69	T	A	7: 107,966,947 (GRCm39)	N83K	probably benign	Het
Or6c35	G	A	10: 129,169,541 (GRCm39)	D264N	probably benign	Het
Or9s15	A	T	1: 92,524,328 (GRCm39)	E29V	probably benign	Het
Pi4ka	A	G	16: 17,120,976 (GRCm39)	Y63H	probably damaging	Het
Plekha1	A	G	7: 130,503,922 (GRCm39)	R210G	probably damaging	Het
Ppp2r2c	C	T	5: 37,109,748 (GRCm39)	T369I	possibly damaging	Het
Relch	A	G	1: 105,670,979 (GRCm39)	D1029G	probably damaging	Het
Rmnd1	T	C	10: 4,357,884 (GRCm39)	D12G	probably damaging	Het
Rtn2	A	G	7: 19,027,664 (GRCm39)	K120E	probably damaging	Het
Sh3tc1	A	G	5: 35,873,508 (GRCm39)	S30P	probably benign	Het
Tln2	T	C	9: 67,179,986 (GRCm39)	E795G	possibly damaging	Het
Tmprss11d	T	A	5: 86,457,128 (GRCm39)	Y177F	probably damaging	Het
Trrap	C	A	5: 144,765,372 (GRCm39)	D2529E	probably benign	Het
Vmn2r58	A	G	7: 41,513,417 (GRCm39)	Y409H	probably benign	Het
Wdr72	T	A	9: 74,058,876 (GRCm39)	V323D	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
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

Predicted Primers

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

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

Posted On

2014-08-25