Mutagenetix > Incidental Mutation

Incidental Mutation 'R9162:Arsi'

695812

Institutional Source

Beutler Lab

Gene Symbol

Arsi

Ensembl Gene

ENSMUSG00000036412

Gene Name

arylsulfatase i

Synonyms

MMRRC Submission

068943-MU

Accession Numbers

Essential gene?

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

Stock #

R9162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61045063-61051633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61050569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 484 (V484A)

Ref Sequence

ENSEMBL: ENSMUSP00000043966 (fasta)

Gene Model

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

AlphaFold

Q32KI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040359
AA Change: V484A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043966
Gene: ENSMUSG00000036412
AA Change: V484A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,611,732 (GRCm39)	D516G	probably damaging	Het
Abcd2	A	G	15: 91,058,926 (GRCm39)	M506T	probably benign	Het
Abhd17a	T	C	10: 80,422,577 (GRCm39)	Y35C	probably damaging	Het
Adamts12	A	G	15: 11,311,721 (GRCm39)	N1326S	probably benign	Het
Arhgef18	T	C	8: 3,414,645 (GRCm39)	Y8H	probably benign	Het
Bsn	T	C	9: 107,987,883 (GRCm39)	D2623G	unknown	Het
Cul9	A	C	17: 46,837,529 (GRCm39)	D1005E	probably benign	Het
Dchs1	A	C	7: 105,414,732 (GRCm39)	V770G	probably damaging	Het
Dcst2	C	A	3: 89,274,088 (GRCm39)	S213*	probably null	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dysf	C	T	6: 84,089,215 (GRCm39)	T926I	probably damaging	Het
Ext1	G	A	15: 53,208,504 (GRCm39)	R86*	probably null	Het
Fat1	T	C	8: 45,404,352 (GRCm39)	F368L	probably damaging	Het
Flnc	T	C	6: 29,455,860 (GRCm39)	C2097R	probably damaging	Het
Git1	T	A	11: 77,396,331 (GRCm39)	I565N	probably benign	Het
Gpr22	A	G	12: 31,758,724 (GRCm39)	V466A	probably benign	Het
Hacd4	T	A	4: 88,338,017 (GRCm39)	T194S	probably benign	Het
Hectd4	A	G	5: 121,445,042 (GRCm39)	K93R	possibly damaging	Het
Kcnv1	T	C	15: 44,972,450 (GRCm39)	S478G	possibly damaging	Het
Kmt2a	T	C	9: 44,759,363 (GRCm39)	S829G	probably benign	Het
Lnp1	A	T	16: 56,737,844 (GRCm39)	H81Q	possibly damaging	Het
Lrp1	C	T	10: 127,441,368 (GRCm39)	A252T	probably benign	Het
Msl2	T	C	9: 100,978,928 (GRCm39)	V434A	probably benign	Het
Myo1g	T	A	11: 6,460,897 (GRCm39)	I716F	probably damaging	Het
Or52e19	A	T	7: 102,958,927 (GRCm39)		probably benign	Het
Or56a42-ps1	A	T	7: 104,777,454 (GRCm39)	Y53*	probably null	Het
Or5b12	A	T	19: 12,897,024 (GRCm39)	Y216*	probably null	Het
Or7e175	A	G	9: 20,040,457 (GRCm39)	I6V	probably benign	Het
Pappa	T	A	4: 65,123,040 (GRCm39)	S792T	probably damaging	Het
Pcdhb17	T	C	18: 37,620,168 (GRCm39)	S653P	probably damaging	Het
Plcd4	A	G	1: 74,601,362 (GRCm39)	K574R	probably benign	Het
Scyl3	C	A	1: 163,773,891 (GRCm39)	Q372K	probably benign	Het
Sgsm1	A	T	5: 113,430,577 (GRCm39)	D269E	probably damaging	Het
Siah2	C	A	3: 58,599,104 (GRCm39)	G45C	unknown	Het
Slc4a11	T	A	2: 130,534,214 (GRCm39)	D28V	possibly damaging	Het
Slco1a8	T	A	6: 141,939,453 (GRCm39)	E200V	probably damaging	Het
Socs4	T	A	14: 47,528,301 (GRCm39)	M412K	probably damaging	Het
Spata31e1	T	G	13: 49,939,310 (GRCm39)	Q800P	possibly damaging	Het
Spef2	T	G	15: 9,602,017 (GRCm39)	N1415T	unknown	Het
Stat6	A	G	10: 127,487,089 (GRCm39)	K199E	probably damaging	Het
Syndig1l	A	G	12: 84,727,291 (GRCm39)	F91S	probably damaging	Het
Tank	C	A	2: 61,480,432 (GRCm39)	Q324K	possibly damaging	Het
Tars3	G	A	7: 65,332,518 (GRCm39)	E540K	probably benign	Het
Tial1	A	G	7: 128,050,415 (GRCm39)	V70A	possibly damaging	Het
Tmem87b	C	T	2: 128,681,150 (GRCm39)	T358I	probably benign	Het
Ttyh3	G	A	5: 140,621,820 (GRCm39)	A42V	possibly damaging	Het
Xrn1	T	C	9: 95,915,660 (GRCm39)	I1261T	probably benign	Het
Zfp229	T	C	17: 21,964,495 (GRCm39)	S242P	probably damaging	Het
Zmym2	T	A	14: 57,163,361 (GRCm39)	C638S	probably benign	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
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
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'- TGGAATACAGCAGTGCAGGC -3'
(R):5'- GGAGAAACTTCTAGCTCTGCC -3'

Sequencing Primer
(F):5'- TGGAAGCTGCTCACTGGAGAC -3'
(R):5'- GAGAAACTTCTAGCTCTGCCTTCCTC -3'

Posted On

2022-02-07