Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Gns'

279648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gns

Ensembl Gene

ENSMUSG00000034707

Gene Name

glucosamine (N-acetyl)-6-sulfatase

Synonyms

2610016K11Rik, G6S

Accession Numbers

Essential gene?

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

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

121200995-121233154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121226598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 416 (T416A)

Ref Sequence

ENSEMBL: ENSMUSP00000043167 (fasta)

Gene Model

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

AlphaFold

Q8BFR4

Predicted Effect

probably benign
Transcript: ENSMUST00000040344
AA Change: T416A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000043167
Gene: ENSMUSG00000034707
AA Change: T416A

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: ENSMUST00000219216

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 105,109,052 (GRCm39)	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,262,118 (GRCm39)	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,092,468 (GRCm39)	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,884,813 (GRCm39)	T788I	probably benign	Het
Asic1	T	C	15: 99,592,567 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,870,199 (GRCm39)	M68K	probably benign	Het
Cdhr5	G	T	7: 140,849,894 (GRCm39)	T637K	probably damaging	Het
Corin	A	T	5: 72,529,489 (GRCm39)	C289S	probably damaging	Het
Cpne4	T	C	9: 104,563,701 (GRCm39)	V26A	probably damaging	Het
Csmd1	T	C	8: 16,261,773 (GRCm39)	D908G	probably null	Het
Cyp2c29	A	G	19: 39,296,064 (GRCm39)	D126G	probably damaging	Het
Ddx42	G	A	11: 106,129,986 (GRCm39)	S426N	probably benign	Het
Dnah1	C	T	14: 31,026,958 (GRCm39)	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,006,715 (GRCm39)	T246A	probably damaging	Het
Fbn1	A	T	2: 125,205,889 (GRCm39)	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527 (GRCm39)	N536S	probably benign	Het
Gnal	G	A	18: 67,350,279 (GRCm39)		probably benign	Het
Heatr5b	G	A	17: 79,124,943 (GRCm39)	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,527,548 (GRCm39)		probably benign	Het
Krt23	C	T	11: 99,383,836 (GRCm39)	G19R	probably benign	Het
Lama2	C	T	10: 27,014,956 (GRCm39)	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,815,772 (GRCm39)	V11M	probably damaging	Het
Man1a2	T	C	3: 100,489,447 (GRCm39)	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,239,204 (GRCm39)	V241F	possibly damaging	Het
Myh3	A	G	11: 66,973,750 (GRCm39)	D141G	probably benign	Het
Mylk2	G	A	2: 152,757,056 (GRCm39)	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,069,173 (GRCm39)	T471S	probably damaging	Het
Naip1	A	G	13: 100,562,096 (GRCm39)	V1023A	probably benign	Het
Olfm5	T	A	7: 103,803,438 (GRCm39)	T342S	probably benign	Het
Or10g1	A	G	14: 52,647,511 (GRCm39)	F273L	probably benign	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,642,910 (GRCm39)	F263L	probably benign	Het
Plekhh2	A	T	17: 84,906,608 (GRCm39)	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,081,513 (GRCm39)		probably benign	Het
Rbm28	G	T	6: 29,138,617 (GRCm39)	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,130,524 (GRCm39)	F234L	probably benign	Het
Sele	T	C	1: 163,880,662 (GRCm39)	S415P	probably benign	Het
Shpk	T	C	11: 73,094,821 (GRCm39)	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,543,703 (GRCm39)	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,489,684 (GRCm39)	P120S	possibly damaging	Het
Slc8a2	A	G	7: 15,891,081 (GRCm39)	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,885,765 (GRCm39)	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,093,650 (GRCm39)	D739A	probably damaging	Het
Thg1l	A	G	11: 45,841,055 (GRCm39)	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,530,475 (GRCm39)	V540M	probably damaging	Het
Wdr48	A	G	9: 119,753,329 (GRCm39)	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,433,371 (GRCm39)	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,300,351 (GRCm39)	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,223,643 (GRCm39)	Y133*	probably null	Het

Other mutations in Gns

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1770:Gns	UTSW	10	121,213,952 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16