Mutagenetix > Incidental Mutation

Incidental Mutation 'R9240:Arsg'

700705

Institutional Source

Beutler Lab

Gene Symbol

Arsg

Ensembl Gene

ENSMUSG00000020604

Gene Name

arylsulfatase G

Synonyms

6330406P08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109364200-109464156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109463093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 451 (V451E)

Ref Sequence

ENSEMBL: ENSMUSP00000020928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020928] [ENSMUST00000047186] [ENSMUST00000103060] [ENSMUST00000106696] [ENSMUST00000106697]

AlphaFold

Q3TYD4

Predicted Effect

probably benign
Transcript: ENSMUST00000020928
AA Change: V451E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020928
Gene: ENSMUSG00000020604
AA Change: V451E

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	36	378	2e-69	PFAM
Pfam:Sulfatase_C	401	522	2.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047186

SMART Domains

Protein: ENSMUSP00000038635
Gene: ENSMUSG00000041895

Domain	Start	End	E-Value	Type
low complexity region	68	76	N/A	INTRINSIC
Blast:WD40	90	125	7e-12	BLAST
WD40	175	215	3.45e-3	SMART
WD40	218	260	4.13e0	SMART
WD40	306	342	4.93e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103060

SMART Domains

Protein: ENSMUSP00000099349
Gene: ENSMUSG00000041895

Domain	Start	End	E-Value	Type
low complexity region	68	76	N/A	INTRINSIC
Blast:WD40	90	125	6e-12	BLAST
WD40	175	215	3.45e-3	SMART
WD40	218	260	4.13e0	SMART
WD40	306	342	4.93e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106696
AA Change: V128E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102307
Gene: ENSMUSG00000020604
AA Change: V128E

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	3	55	3.8e-11	PFAM
Pfam:Sulfatase_C	78	199	5.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106697
AA Change: V451E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102308
Gene: ENSMUSG00000020604
AA Change: V451E

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	36	378	2e-69	PFAM
Pfam:Sulfatase_C	401	522	4.7e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a null mutation display lysosomal storage pathology in the nervous system and peripheral tissues, including the liver and kidneys, resulting in Purkinje cell loss and age dependent cognitive impairment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,966,406 (GRCm39)	I187V	probably benign	Het
Adam7	C	A	14: 68,747,208 (GRCm39)	V584L	probably benign	Het
Btbd8	A	G	5: 107,600,034 (GRCm39)	D175G	probably benign	Het
Cacnb3	C	T	15: 98,540,486 (GRCm39)	P338L	probably benign	Het
Cars1	G	T	7: 143,138,533 (GRCm39)	P218Q	probably benign	Het
Ccdc180	T	C	4: 45,917,566 (GRCm39)		probably null	Het
Cdh23	C	T	10: 60,215,044 (GRCm39)	D1431N	probably benign	Het
Cenpf	A	T	1: 189,389,167 (GRCm39)	V1555D	probably benign	Het
Creb3l2	T	C	6: 37,311,506 (GRCm39)	N428D	possibly damaging	Het
Crebbp	A	T	16: 3,917,537 (GRCm39)		probably null	Het
Cstf1	C	A	2: 172,217,669 (GRCm39)	P94Q	probably damaging	Het
Dis3l	A	G	9: 64,217,447 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,052,005 (GRCm39)	D124E	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Eea1	T	G	10: 95,776,824 (GRCm39)	I5S	probably benign	Het
F7	A	T	8: 13,085,173 (GRCm39)	T400S	probably damaging	Het
Fbxo38	C	A	18: 62,651,632 (GRCm39)	E558*	probably null	Het
Fcgr2b	C	T	1: 170,797,042 (GRCm39)		probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Flt1	T	C	5: 147,618,676 (GRCm39)	N220D	probably benign	Het
Fzd9	A	G	5: 135,278,812 (GRCm39)	Y358H	probably damaging	Het
Gcc2	C	T	10: 58,106,398 (GRCm39)	Q545*	probably null	Het
Gkn3	T	C	6: 87,365,789 (GRCm39)	N10S	probably benign	Het
Gls	C	G	1: 52,207,553 (GRCm39)	V604L	probably benign	Het
Gtf2i	T	A	5: 134,292,619 (GRCm39)	Q375L	probably benign	Het
Hells	A	G	19: 38,935,289 (GRCm39)	M320V	possibly damaging	Het
Ints3	T	C	3: 90,310,410 (GRCm39)	S497G	possibly damaging	Het
Iqub	C	A	6: 24,505,622 (GRCm39)	L95F	probably benign	Het
Mat1a	G	A	14: 40,827,573 (GRCm39)	C9Y	probably benign	Het
Mfsd4b5	A	G	10: 39,851,099 (GRCm39)	L103P	probably damaging	Het
Ms4a14	T	C	19: 11,281,864 (GRCm39)	I231M	possibly damaging	Het
Muc16	T	C	9: 18,449,309 (GRCm39)	T7580A	unknown	Het
Myb	A	T	10: 21,016,500 (GRCm39)	L670Q	probably damaging	Het
Nisch	A	G	14: 30,906,988 (GRCm39)	L236P	unknown	Het
Or5d38	A	C	2: 87,955,231 (GRCm39)	F33V	probably benign	Het
Plscr4	A	T	9: 92,366,934 (GRCm39)	M183L	probably benign	Het
Polr1a	T	A	6: 71,940,661 (GRCm39)	C998*	probably null	Het
Prokr2	A	T	2: 132,223,377 (GRCm39)	V55E	possibly damaging	Het
Prr12	A	T	7: 44,684,075 (GRCm39)	V1655E	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rspo1	C	T	4: 124,885,132 (GRCm39)	L3F	probably benign	Het
Rtn4rl1	C	A	11: 75,156,082 (GRCm39)	D171E	probably damaging	Het
Ryr1	A	G	7: 28,743,313 (GRCm39)	F3895L	probably damaging	Het
Scn8a	G	T	15: 100,915,068 (GRCm39)	G1211*	probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarcd3	T	A	5: 24,801,831 (GRCm39)	M103L	probably benign	Het
Smg1	A	T	7: 117,739,031 (GRCm39)	S3458T	probably benign	Het
Smg6	C	T	11: 74,825,884 (GRCm39)	R738W	probably damaging	Het
Spef2	G	A	15: 9,578,401 (GRCm39)	Q1708*	probably null	Het
Taf2	A	T	15: 54,926,464 (GRCm39)	V162E	probably null	Het
Tbc1d23	A	T	16: 57,032,748 (GRCm39)	N154K	possibly damaging	Het
Tbx3	A	G	5: 119,818,960 (GRCm39)	S532G	probably benign	Het
Tedc1	T	C	12: 113,121,310 (GRCm39)	I177T	probably benign	Het
Tnrc6b	G	C	15: 80,764,262 (GRCm39)	G588A	probably damaging	Het
Top2a	T	A	11: 98,901,368 (GRCm39)	K519*	probably null	Het
Trim47	T	A	11: 115,999,148 (GRCm39)	M243L	probably benign	Het
Ttn	A	T	2: 76,641,865 (GRCm39)		probably null	Het
Uggt1	T	C	1: 36,221,696 (GRCm39)	E624G	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r9	A	G	5: 108,996,099 (GRCm39)	V183A	possibly damaging	Het
Zfp212	T	A	6: 47,906,032 (GRCm39)	V197E	probably benign	Het

Other mutations in Arsg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02093:Arsg	APN	11	109,416,272 (GRCm39)	missense	possibly damaging	0.88
IGL02257:Arsg	APN	11	109,412,473 (GRCm39)	splice site	probably benign
IGL03069:Arsg	APN	11	109,454,082 (GRCm39)	missense	probably damaging	1.00
R0421:Arsg	UTSW	11	109,418,592 (GRCm39)	missense	probably damaging	1.00
R1235:Arsg	UTSW	11	109,424,933 (GRCm39)	critical splice donor site	probably null
R1830:Arsg	UTSW	11	109,454,100 (GRCm39)	critical splice donor site	probably null
R2831:Arsg	UTSW	11	109,416,275 (GRCm39)	missense	possibly damaging	0.61
R4573:Arsg	UTSW	11	109,408,108 (GRCm39)	missense	probably damaging	1.00
R4780:Arsg	UTSW	11	109,424,839 (GRCm39)	missense	possibly damaging	0.80
R4811:Arsg	UTSW	11	109,424,898 (GRCm39)	missense	probably benign	0.00
R5510:Arsg	UTSW	11	109,418,700 (GRCm39)	missense	probably benign	0.33
R5861:Arsg	UTSW	11	109,454,014 (GRCm39)	missense	probably damaging	1.00
R5944:Arsg	UTSW	11	109,426,137 (GRCm39)	missense	probably damaging	0.99
R6502:Arsg	UTSW	11	109,408,162 (GRCm39)	missense	probably damaging	1.00
R6962:Arsg	UTSW	11	109,412,495 (GRCm39)	missense	probably damaging	1.00
R9005:Arsg	UTSW	11	109,381,346 (GRCm39)	missense	probably benign
R9748:Arsg	UTSW	11	109,381,452 (GRCm39)	missense	probably damaging	1.00
X0019:Arsg	UTSW	11	109,454,079 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGGACAGACGATCATCAC -3'
(R):5'- GATCCTGAGTGTAGTCTGCTC -3'

Sequencing Primer
(F):5'- CTGGACAGACGATCATCACTAGAAAG -3'
(R):5'- CTCGGGAGCTGTTGTCATCAG -3'

Posted On

2022-02-07