Mutagenetix > Incidental Mutation

Incidental Mutation 'R9581:Arsi'

722573

Institutional Source

Beutler Lab

Gene Symbol

Arsi

Ensembl Gene

ENSMUSG00000036412

Gene Name

arylsulfatase i

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9581 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60911780-60918561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60917088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 348 (T348A)

Ref Sequence

ENSEMBL: ENSMUSP00000043966 (fasta)

Gene Model

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

AlphaFold

Q32KI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040359
AA Change: T348A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043966
Gene: ENSMUSG00000036412
AA Change: T348A

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: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	G	5: 8,740,428	I1097R	possibly damaging	Het
Abcd4	A	G	12: 84,603,988	S533P	probably damaging	Het
Adat1	C	T	8: 111,979,314	V387I	probably benign	Het
Aff3	T	A	1: 38,210,185	T614S	probably benign	Het
Aldh1a1	T	A	19: 20,620,053	C133S	probably benign	Het
Ankrd12	A	G	17: 65,983,420	S1673P	probably damaging	Het
Aox2	T	A	1: 58,330,896		probably null	Het
Baz2b	T	C	2: 59,968,956	R275G	probably benign	Het
Cdh2	T	A	18: 16,670,055		probably benign	Het
Cela1	C	T	15: 100,675,380	A243T	probably benign	Het
Cep192	G	T	18: 67,847,394	V1409F	probably damaging	Het
Chia1	T	C	3: 106,128,563	Y240H	possibly damaging	Het
Dact1	A	T	12: 71,318,845	K763M	probably damaging	Het
Dip2b	C	A	15: 100,181,374	N822K	probably damaging	Het
Dnah12	C	T	14: 26,770,028	T1140I	probably damaging	Het
Drc7	T	C	8: 95,059,154	S213P	probably damaging	Het
Ell2	A	G	13: 75,764,029	D478G	probably benign	Het
Evpl	G	A	11: 116,229,834	T483M	probably benign	Het
Farp1	A	T	14: 121,243,429	E414V	probably benign	Het
Fbxl17	A	G	17: 63,499,530	V163A	probably benign	Het
Foxn3	C	T	12: 99,196,776	E289K	probably damaging	Het
Fscb	T	A	12: 64,474,348	I115F	probably benign	Het
Gm14496	A	T	2: 182,000,254	T573S	probably benign	Het
Golga1	G	T	2: 39,019,561	D677E	probably damaging	Het
Herc6	A	T	6: 57,658,116	K772N	probably damaging	Het
Ikbkb	T	C	8: 22,665,559	D639G	probably damaging	Het
Lrrc61	G	A	6: 48,568,719	V159I	possibly damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mib1	A	G	18: 10,775,701	D551G	possibly damaging	Het
Muc5ac	G	T	7: 141,810,062	R2370L	unknown	Het
Mybpc3	A	G	2: 91,119,271	D53G	probably benign	Het
Myo9b	C	T	8: 71,359,899	P2105S	probably benign	Het
Naip5	G	T	13: 100,214,686	H1271Q	probably benign	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nmt2	T	C	2: 3,316,175	V340A	possibly damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Nox3	G	A	17: 3,650,053	R462W	possibly damaging	Het
Olfr243	A	G	7: 103,716,581		probably benign	Het
Olfr63	C	A	17: 33,269,021	A99D	probably damaging	Het
Pcdhgc4	A	G	18: 37,817,136	Q535R	probably benign	Het
Pcsk5	T	C	19: 17,454,832	D1473G	probably benign	Het
Pdilt	A	T	7: 119,500,410	F212I	probably damaging	Het
Ptk2b	A	T	14: 66,213,340	V59D	probably damaging	Het
Ptprf	T	C	4: 118,235,060	D571G	probably benign	Het
Ptprq	A	T	10: 107,711,910	V209E	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,918		probably benign	Het
Schip1	TCTGGCC	TC	3: 68,617,727		probably null	Het
Sec16a	C	T	2: 26,438,635	V142I		Het
Slamf6	A	G	1: 171,934,330	Y106C		Het
Strc	A	G	2: 121,377,447	V481A	probably damaging	Het
Sulf1	A	T	1: 12,805,254	I163F	possibly damaging	Het
Tjp1	A	G	7: 65,299,724	S1637P	probably damaging	Het
Tlr9	A	G	9: 106,224,311	E267G	probably damaging	Het
Tmem117	T	A	15: 95,094,387	F309L	probably benign	Het
Tmtc4	T	C	14: 122,950,586	N196S	probably benign	Het
Trim16	T	A	11: 62,836,731	I293K	probably damaging	Het
Trim7	T	C	11: 48,848,060	V95A	probably damaging	Het
Ttll6	A	T	11: 96,158,746	K763N	probably benign	Het
Tut1	T	C	19: 8,964,617	S483P	probably benign	Het
Zfp101	A	T	17: 33,386,756	L26*	probably null	Het
Zfp106	C	T	2: 120,535,326	R155K		Het
Zfp518a	T	A	19: 40,911,712	D28E	probably damaging	Het
Zfp90	T	A	8: 106,425,082	S476T	probably benign	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
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
Z1176:Arsi	UTSW	18	60916780	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTCAAGCGCTATGGTTTC -3'
(R):5'- GCTGTATTCCAGATCCCAAAGCC -3'

Sequencing Primer
(F):5'- GCGCTATGGTTTCTATAACAACAGTG -3'
(R):5'- GCCACCCTCCAAGGATCCATG -3'

Posted On

2022-08-09