Mutagenetix > Incidental Mutation

Incidental Mutation 'R5861:Arsg'

453930

Institutional Source

Beutler Lab

Gene Symbol

Arsg

Ensembl Gene

ENSMUSG00000020604

Gene Name

arylsulfatase G

Synonyms

6330406P08Rik

MMRRC Submission

044073-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109364200-109464156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109454014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 407 (F407I)

Ref Sequence

ENSEMBL: ENSMUSP00000102308 (fasta)

Gene Model

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

AlphaFold

Q3TYD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020928
AA Change: F407I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020928
Gene: ENSMUSG00000020604
AA Change: F407I

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 damaging
Transcript: ENSMUST00000106696
AA Change: F84I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102307
Gene: ENSMUSG00000020604
AA Change: F84I

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 damaging
Transcript: ENSMUST00000106697
AA Change: F407I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102308
Gene: ENSMUSG00000020604
AA Change: F407I

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

Meta Mutation Damage Score

0.3737

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

98% (81/83)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,644 (GRCm39)	T246N	probably damaging	Het
Aopep	A	G	13: 63,446,626 (GRCm39)	D143G	probably damaging	Het
Arhgap10	C	T	8: 78,037,393 (GRCm39)	A612T	probably damaging	Het
Asxl1	C	A	2: 153,241,310 (GRCm39)	A620D	probably damaging	Het
C2cd3	A	G	7: 100,093,682 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,267,359 (GRCm39)	V92I	probably damaging	Het
Cog2	T	C	8: 125,264,617 (GRCm39)	F332S	probably damaging	Het
Crhbp	G	A	13: 95,580,333 (GRCm39)	A82V	probably damaging	Het
Cyp2j6	A	G	4: 96,434,040 (GRCm39)	V90A	possibly damaging	Het
Dennd4c	A	T	4: 86,709,589 (GRCm39)	M397L	probably benign	Het
Dnajb8	A	G	6: 88,200,088 (GRCm39)	D208G	possibly damaging	Het
Ecm1	G	C	3: 95,643,909 (GRCm39)	L230V	probably damaging	Het
Ercc2	G	C	7: 19,128,066 (GRCm39)	A696P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm13035	A	G	4: 146,009,859 (GRCm39)		noncoding transcript	Het
Gm28042	T	C	2: 119,865,116 (GRCm39)	V247A	probably damaging	Het
Gm28455	T	A	7: 39,148,003 (GRCm39)		noncoding transcript	Het
Gpr150	A	T	13: 76,204,192 (GRCm39)	V251D	possibly damaging	Het
Grip1	C	T	10: 119,765,875 (GRCm39)	S69L	probably damaging	Het
Hs6st3	A	G	14: 119,376,265 (GRCm39)	I147V	possibly damaging	Het
Il5	G	A	11: 53,614,743 (GRCm39)	E102K	probably benign	Het
Kif1c	T	C	11: 70,594,621 (GRCm39)	F94L	probably damaging	Het
Lrrc63	T	C	14: 75,344,806 (GRCm39)	E427G	possibly damaging	Het
Man1b1	A	G	2: 25,238,066 (GRCm39)	T384A	probably benign	Het
Mapk15	C	A	15: 75,868,208 (GRCm39)		probably benign	Het
Mfsd10	T	C	5: 34,791,588 (GRCm39)		probably benign	Het
Mgat5	C	A	1: 127,315,129 (GRCm39)	A285E	probably damaging	Het
Mroh4	T	A	15: 74,478,456 (GRCm39)		probably benign	Het
Myf5	A	T	10: 107,320,069 (GRCm39)	C194S	probably benign	Het
Myh7	A	G	14: 55,226,347 (GRCm39)	V431A	possibly damaging	Het
Nadsyn1	A	C	7: 143,364,964 (GRCm39)	M247R	possibly damaging	Het
Nipsnap3b	A	G	4: 53,021,177 (GRCm39)	D166G	probably damaging	Het
Nqo2	A	T	13: 34,156,413 (GRCm39)	L42F	probably damaging	Het
Nt5dc3	A	T	10: 86,651,738 (GRCm39)	D180V	probably damaging	Het
Numa1	C	A	7: 101,658,494 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,052 (GRCm39)	L328Q	probably damaging	Het
Or4e1	T	C	14: 52,700,953 (GRCm39)	Y171C	probably damaging	Het
Or5w17	A	T	2: 87,583,922 (GRCm39)	N138K	probably benign	Het
Or7a37	A	T	10: 78,805,765 (GRCm39)	Y94F	probably damaging	Het
Papolb	T	C	5: 142,514,992 (GRCm39)	N217S	possibly damaging	Het
Pcmtd2	C	A	2: 181,484,268 (GRCm39)	T26K	probably damaging	Het
Pld5	T	G	1: 175,917,571 (GRCm39)	N59H	probably damaging	Het
Ppm1d	T	C	11: 85,202,674 (GRCm39)	S126P	possibly damaging	Het
Ppp1r21	T	C	17: 88,889,937 (GRCm39)	L727P	probably damaging	Het
Pramel20	G	T	4: 143,297,810 (GRCm39)	V77L	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Rara	T	A	11: 98,858,987 (GRCm39)	C148*	probably null	Het
Rexo2	A	T	9: 48,386,481 (GRCm39)	I83N	probably damaging	Het
Rnf213	A	G	11: 119,364,203 (GRCm39)	R4501G	probably damaging	Het
Rps5	T	A	7: 12,659,501 (GRCm39)	F97L	probably damaging	Het
Sigirr	G	A	7: 140,671,292 (GRCm39)	R397W	probably damaging	Het
Slc6a6	T	C	6: 91,718,014 (GRCm39)	Y318H	probably damaging	Het
Spam1	A	G	6: 24,796,570 (GRCm39)	T174A	probably benign	Het
Stam2	G	T	2: 52,632,116 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,868,337 (GRCm39)	E348G	probably benign	Het
Taf11	T	C	17: 28,120,644 (GRCm39)	T209A	probably benign	Het
Tenm4	A	G	7: 96,492,424 (GRCm39)		probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Uevld	A	T	7: 46,576,104 (GRCm39)	S461T	probably benign	Het
Vmn2r6	T	A	3: 64,463,454 (GRCm39)	N460I	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zfp316	T	C	5: 143,249,095 (GRCm39)	Y180C	unknown	Het
Zfp941	A	G	7: 140,392,052 (GRCm39)	S436P	probably damaging	Het
Zfp979	G	A	4: 147,697,966 (GRCm39)	Q248*	probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	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
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
R9240:Arsg	UTSW	11	109,463,093 (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'- TTATAGCCACGCACCATCG -3'
(R):5'- GGTCCAGAATGCCTTTGCTG -3'

Sequencing Primer
(F):5'- CGAAGATGTTTTCTATGTGCGTCCC -3'
(R):5'- CTCCAGCCAAGTTTAAGGTTG -3'

Posted On

2017-02-10