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: 0.074) question?

Stock #

R9581 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61045063-61051633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61050160 bp (GRCm39)

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: 8,790,428 (GRCm39)	I1097R	possibly damaging	Het
Abcd4	A	G	12: 84,650,762 (GRCm39)	S533P	probably damaging	Het
Adat1	C	T	8: 112,705,946 (GRCm39)	V387I	probably benign	Het
Aff3	T	A	1: 38,249,266 (GRCm39)	T614S	probably benign	Het
Aldh1a1	T	A	19: 20,597,417 (GRCm39)	C133S	probably benign	Het
Ankrd12	A	G	17: 66,290,415 (GRCm39)	S1673P	probably damaging	Het
Aox1	T	A	1: 58,370,055 (GRCm39)		probably null	Het
Baz2b	T	C	2: 59,799,300 (GRCm39)	R275G	probably benign	Het
Cdh2	T	A	18: 16,803,112 (GRCm39)		probably benign	Het
Cela1	C	T	15: 100,573,261 (GRCm39)	A243T	probably benign	Het
Cep192	G	T	18: 67,980,465 (GRCm39)	V1409F	probably damaging	Het
Chia1	T	C	3: 106,035,879 (GRCm39)	Y240H	possibly damaging	Het
Dact1	A	T	12: 71,365,619 (GRCm39)	K763M	probably damaging	Het
Dip2b	C	A	15: 100,079,255 (GRCm39)	N822K	probably damaging	Het
Dnah12	C	T	14: 26,491,985 (GRCm39)	T1140I	probably damaging	Het
Drc7	T	C	8: 95,785,782 (GRCm39)	S213P	probably damaging	Het
Ell2	A	G	13: 75,912,148 (GRCm39)	D478G	probably benign	Het
Evpl	G	A	11: 116,120,660 (GRCm39)	T483M	probably benign	Het
Farp1	A	T	14: 121,480,841 (GRCm39)	E414V	probably benign	Het
Fbxl17	A	G	17: 63,806,525 (GRCm39)	V163A	probably benign	Het
Foxn3	C	T	12: 99,163,035 (GRCm39)	E289K	probably damaging	Het
Fscb	T	A	12: 64,521,122 (GRCm39)	I115F	probably benign	Het
Gm14496	A	T	2: 181,642,047 (GRCm39)	T573S	probably benign	Het
Golga1	G	T	2: 38,909,573 (GRCm39)	D677E	probably damaging	Het
Herc6	A	T	6: 57,635,101 (GRCm39)	K772N	probably damaging	Het
Ikbkb	T	C	8: 23,155,575 (GRCm39)	D639G	probably damaging	Het
Lrrc61	G	A	6: 48,545,653 (GRCm39)	V159I	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mib1	A	G	18: 10,775,701 (GRCm39)	D551G	possibly damaging	Het
Muc5ac	G	T	7: 141,363,799 (GRCm39)	R2370L	unknown	Het
Mybpc3	A	G	2: 90,949,616 (GRCm39)	D53G	probably benign	Het
Myo9b	C	T	8: 71,812,543 (GRCm39)	P2105S	probably benign	Het
Naip5	G	T	13: 100,351,194 (GRCm39)	H1271Q	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nmt2	T	C	2: 3,317,212 (GRCm39)	V340A	possibly damaging	Het
Nos1	A	G	5: 118,043,459 (GRCm39)	E578G	probably damaging	Het
Nox3	G	A	17: 3,700,328 (GRCm39)	R462W	possibly damaging	Het
Or10h28	C	A	17: 33,487,995 (GRCm39)	A99D	probably damaging	Het
Or52a20	A	G	7: 103,365,788 (GRCm39)		probably benign	Het
Pcdhgc4	A	G	18: 37,950,189 (GRCm39)	Q535R	probably benign	Het
Pcsk5	T	C	19: 17,432,196 (GRCm39)	D1473G	probably benign	Het
Pdilt	A	T	7: 119,099,633 (GRCm39)	F212I	probably damaging	Het
Ptk2b	A	T	14: 66,450,789 (GRCm39)	V59D	probably damaging	Het
Ptprf	T	C	4: 118,092,257 (GRCm39)	D571G	probably benign	Het
Ptprq	A	T	10: 107,547,771 (GRCm39)	V209E	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Schip1	TCTGGCC	TC	3: 68,525,060 (GRCm39)		probably null	Het
Sec16a	C	T	2: 26,328,647 (GRCm39)	V142I		Het
Slamf6	A	G	1: 171,761,897 (GRCm39)	Y106C		Het
Strc	A	G	2: 121,207,928 (GRCm39)	V481A	probably damaging	Het
Sulf1	A	T	1: 12,875,478 (GRCm39)	I163F	possibly damaging	Het
Tjp1	A	G	7: 64,949,472 (GRCm39)	S1637P	probably damaging	Het
Tlr9	A	G	9: 106,101,510 (GRCm39)	E267G	probably damaging	Het
Tmem117	T	A	15: 94,992,268 (GRCm39)	F309L	probably benign	Het
Tmtc4	T	C	14: 123,187,998 (GRCm39)	N196S	probably benign	Het
Trim16	T	A	11: 62,727,557 (GRCm39)	I293K	probably damaging	Het
Trim7	T	C	11: 48,738,887 (GRCm39)	V95A	probably damaging	Het
Ttll6	A	T	11: 96,049,572 (GRCm39)	K763N	probably benign	Het
Tut1	T	C	19: 8,941,981 (GRCm39)	S483P	probably benign	Het
Zfp101	A	T	17: 33,605,730 (GRCm39)	L26*	probably null	Het
Zfp106	C	T	2: 120,365,807 (GRCm39)	R155K		Het
Zfp518a	T	A	19: 40,900,156 (GRCm39)	D28E	probably damaging	Het
Zfp90	T	A	8: 107,151,714 (GRCm39)	S476T	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
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
Z1176:Arsi	UTSW	18	61,049,852 (GRCm39)	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