Mutagenetix > Incidental Mutation

Incidental Mutation 'R1770:Gns'

196500

Institutional Source

Beutler Lab

Gene Symbol

Gns

Ensembl Gene

ENSMUSG00000034707

Gene Name

glucosamine (N-acetyl)-6-sulfatase

Synonyms

2610016K11Rik, G6S

MMRRC Submission

039801-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R1770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121200995-121233154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121213952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 209 (D209G)

Ref Sequence

ENSEMBL: ENSMUSP00000043167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040344] [ENSMUST00000219249] [ENSMUST00000219505] [ENSMUST00000219851]

AlphaFold

Q8BFR4

Predicted Effect

probably benign
Transcript: ENSMUST00000040344
AA Change: D209G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000043167
Gene: ENSMUSG00000034707
AA Change: D209G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:Sulfatase	39	376	1.4e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217712

Predicted Effect

probably benign
Transcript: ENSMUST00000219249

Predicted Effect

probably benign
Transcript: ENSMUST00000219505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219580

Predicted Effect

probably benign
Transcript: ENSMUST00000219851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220350

Meta Mutation Damage Score

0.1973

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

92% (69/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous KO results in progressive lysosomal glycosaminoglycan accumulation in the central nervous system and peripheral organs and causes hypoactivity and shortened lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,661,874 (GRCm39)	T84A	probably benign	Het
Adgra1	T	A	7: 139,453,947 (GRCm39)	Y161*	probably null	Het
Aldoart1	G	T	4: 72,770,173 (GRCm39)	H212N	probably benign	Het
Aldob	A	G	4: 49,536,861 (GRCm39)	Y343H	probably damaging	Het
Ankrd17	A	T	5: 90,391,235 (GRCm39)	V2036E	possibly damaging	Het
Ass1	A	G	2: 31,376,528 (GRCm39)	T131A	probably benign	Het
Baz1a	C	T	12: 54,945,293 (GRCm39)	R1354H	probably damaging	Het
C2cd2l	A	G	9: 44,228,108 (GRCm39)	V71A	probably benign	Het
C4b	T	A	17: 34,955,901 (GRCm39)	N678I	possibly damaging	Het
Carmil1	A	G	13: 24,357,657 (GRCm39)	L64P	probably damaging	Het
Cdh18	T	C	15: 23,474,487 (GRCm39)	S786P	probably benign	Het
Cep135	A	G	5: 76,751,042 (GRCm39)	E296G	possibly damaging	Het
Chml	G	A	1: 175,515,444 (GRCm39)	T159I	probably benign	Het
Cntn3	C	T	6: 102,246,166 (GRCm39)	E328K	possibly damaging	Het
Cstf1	A	G	2: 172,214,983 (GRCm39)	I35V	possibly damaging	Het
Cyp2c65	A	G	19: 39,070,642 (GRCm39)	K275R	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbx2	T	C	15: 95,522,615 (GRCm39)	E364G	probably benign	Het
Dcaf13	A	T	15: 38,993,633 (GRCm39)	N242I	probably damaging	Het
Dcc	A	G	18: 71,579,470 (GRCm39)	V701A	probably benign	Het
Elapor2	A	T	5: 9,468,021 (GRCm39)	T230S	probably benign	Het
Fastkd5	A	T	2: 130,456,200 (GRCm39)	Y797N	probably damaging	Het
Fat4	T	A	3: 39,064,417 (GRCm39)	I4791K	probably damaging	Het
Gm3852	T	C	1: 46,051,048 (GRCm39)	I45V	possibly damaging	Het
Gng4	A	G	13: 13,999,851 (GRCm39)	D40G	probably damaging	Het
Kif6	C	A	17: 50,210,677 (GRCm39)	Q791K	possibly damaging	Het
Klhl35	G	A	7: 99,123,082 (GRCm39)	V569M	possibly damaging	Het
Krt1c	A	G	15: 101,719,589 (GRCm39)	S694P	unknown	Het
Lrrc8c	A	G	5: 105,754,603 (GRCm39)	Y126C	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,838 (GRCm39)	V62A	probably benign	Het
Map1b	T	C	13: 99,567,001 (GRCm39)	R1907G	unknown	Het
Mertk	A	G	2: 128,592,094 (GRCm39)	I273V	probably benign	Het
Mfsd4b1	A	G	10: 39,879,223 (GRCm39)	Y225H	probably damaging	Het
Mrc2	T	C	11: 105,229,619 (GRCm39)	V684A	probably damaging	Het
Msh6	G	A	17: 88,287,651 (GRCm39)	W97*	probably null	Het
Mtmr10	A	G	7: 63,986,469 (GRCm39)	I516V	possibly damaging	Het
Myo7a	A	T	7: 97,761,813 (GRCm39)		probably benign	Het
Ndufs5	T	C	4: 123,606,661 (GRCm39)	Y92C	probably benign	Het
Nlrp1b	C	T	11: 71,050,979 (GRCm39)	V1035I	probably benign	Het
Ntrk2	A	G	13: 59,009,132 (GRCm39)	R308G	possibly damaging	Het
Or12e13	A	G	2: 87,663,643 (GRCm39)	I87V	probably benign	Het
Pcdhb16	G	T	18: 37,612,233 (GRCm39)	G398W	probably damaging	Het
Plpbp	T	A	8: 27,543,326 (GRCm39)	S237T	probably damaging	Het
Pnpla6	T	A	8: 3,584,634 (GRCm39)	F769I	possibly damaging	Het
Polk	A	G	13: 96,631,950 (GRCm39)	V261A	probably damaging	Het
Prss52	C	T	14: 64,351,082 (GRCm39)	A289V	probably damaging	Het
Puf60	T	C	15: 75,942,723 (GRCm39)	K407E	probably benign	Het
Pzp	T	C	6: 128,462,580 (GRCm39)	D1455G	probably damaging	Het
Ranbp17	T	C	11: 33,167,301 (GRCm39)	N1054S	probably benign	Het
Sdk2	A	G	11: 113,684,567 (GRCm39)	S1965P	probably benign	Het
Spryd7	T	C	14: 61,777,654 (GRCm39)	Y142C	probably damaging	Het
Srrt	A	T	5: 137,298,122 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,572,464 (GRCm39)	E935G	possibly damaging	Het
Tas2r115	G	A	6: 132,714,934 (GRCm39)	R6C	probably damaging	Het
Tdrd7	T	A	4: 45,987,681 (GRCm39)		probably benign	Het
Trim29	A	T	9: 43,243,673 (GRCm39)	Q564L	probably damaging	Het
Trim5	T	C	7: 103,925,868 (GRCm39)	D231G	probably damaging	Het
Trpv2	A	G	11: 62,487,787 (GRCm39)	K676E	probably benign	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a2	A	G	1: 88,129,160 (GRCm39)	I268V	probably benign	Het
Ugt8a	T	C	3: 125,667,852 (GRCm39)	N330D	probably benign	Het
Utrn	G	A	10: 12,351,040 (GRCm39)	H2822Y	probably damaging	Het
Vmn1r176	G	A	7: 23,534,946 (GRCm39)	A69V	probably benign	Het
Vmn2r106	T	C	17: 20,488,560 (GRCm39)	Y613C	probably damaging	Het
Wdfy1	A	T	1: 79,686,857 (GRCm39)	W296R	probably damaging	Het
Zfp11	G	A	5: 129,734,822 (GRCm39)	T213I	possibly damaging	Het
Zfp142	A	T	1: 74,618,790 (GRCm39)	F193I	probably damaging	Het
Zfp764	G	A	7: 127,004,739 (GRCm39)	Q131*	probably null	Het

Other mutations in Gns

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Gns	APN	10	121,226,598 (GRCm39)	missense	probably benign	0.01
PIT4402001:Gns	UTSW	10	121,212,611 (GRCm39)	missense	probably damaging	1.00
R0086:Gns	UTSW	10	121,227,378 (GRCm39)	missense	probably damaging	1.00
R0344:Gns	UTSW	10	121,219,328 (GRCm39)	missense	probably benign	0.04
R0544:Gns	UTSW	10	121,212,172 (GRCm39)	nonsense	probably null
R0626:Gns	UTSW	10	121,219,349 (GRCm39)	critical splice donor site	probably null
R2142:Gns	UTSW	10	121,228,683 (GRCm39)	missense	probably damaging	1.00
R4036:Gns	UTSW	10	121,207,095 (GRCm39)	missense	probably damaging	1.00
R4451:Gns	UTSW	10	121,212,601 (GRCm39)	missense	probably damaging	1.00
R4569:Gns	UTSW	10	121,217,083 (GRCm39)	missense	probably benign	0.00
R5264:Gns	UTSW	10	121,216,090 (GRCm39)	missense	probably benign	0.12
R5467:Gns	UTSW	10	121,227,351 (GRCm39)	missense	probably benign	0.00
R7268:Gns	UTSW	10	121,212,557 (GRCm39)	missense	probably damaging	1.00
R7588:Gns	UTSW	10	121,226,563 (GRCm39)	missense	probably benign	0.18
R8083:Gns	UTSW	10	121,214,008 (GRCm39)	missense	probably damaging	0.96
R9075:Gns	UTSW	10	121,226,542 (GRCm39)	missense	probably benign	0.02
R9179:Gns	UTSW	10	121,216,080 (GRCm39)	missense
R9749:Gns	UTSW	10	121,214,057 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACAGTTTACTATTCCACCAGCCCC -3'
(R):5'- TTCGAGGATCAGAGGAACCTACCG -3'

Sequencing Primer
(F):5'- CCACATTTTTGGCGGAACATAG -3'
(R):5'- CTACCGTCCCGTGGATGTTG -3'

Posted On

2014-05-23