Mutagenetix > Incidental Mutation

Incidental Mutation 'R0344:Gns'

26448

Institutional Source

Beutler Lab

Gene Symbol

Gns

Ensembl Gene

ENSMUSG00000034707

Gene Name

glucosamine (N-acetyl)-6-sulfatase

Synonyms

2610016K11Rik, G6S

MMRRC Submission

038551-MU

Accession Numbers

Essential gene?

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

Stock #

R0344 (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 121219328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 352 (K352E)

Ref Sequence

ENSEMBL: ENSMUSP00000043167 (fasta)

Gene Model

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

AlphaFold

Q8BFR4

Predicted Effect

probably benign
Transcript: ENSMUST00000040344
AA Change: K352E

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043167
Gene: ENSMUSG00000034707
AA Change: K352E

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

noncoding transcript
Transcript: ENSMUST00000219216

Predicted Effect

probably benign
Transcript: ENSMUST00000219505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220350

Meta Mutation Damage Score

0.0817

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,617,189 (GRCm39)	C29*	probably null	Het
Abca4	G	A	3: 121,877,613 (GRCm39)	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,994,277 (GRCm39)		probably benign	Het
Abr	A	T	11: 76,369,870 (GRCm39)	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,571,231 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,013 (GRCm39)	S936T	probably benign	Het
Agap3	T	C	5: 24,656,200 (GRCm39)		probably benign	Het
Ahrr	T	A	13: 74,362,705 (GRCm39)	S393C	probably damaging	Het
Amfr	T	C	8: 94,713,998 (GRCm39)		probably null	Het
Ankrd26	C	A	6: 118,484,598 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,668 (GRCm39)	V886I	probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,827,731 (GRCm39)	D162G	probably benign	Het
Camkk2	C	T	5: 122,901,940 (GRCm39)	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Catsperg1	A	T	7: 28,894,965 (GRCm39)	V544E	probably damaging	Het
Cdc27	G	A	11: 104,417,817 (GRCm39)		probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dmac2l	T	C	12: 69,787,663 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gdap2	G	A	3: 100,085,572 (GRCm39)	G165S	probably damaging	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Inpp1	A	T	1: 52,838,513 (GRCm39)	F45L	probably damaging	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,008,973 (GRCm39)	K485E	probably benign	Het
Jak2	G	A	19: 29,261,029 (GRCm39)	V342I	probably damaging	Het
Kptn	C	A	7: 15,859,666 (GRCm39)	Q297K	probably damaging	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nup133	A	G	8: 124,644,185 (GRCm39)	V727A	possibly damaging	Het
Oas2	T	G	5: 120,881,152 (GRCm39)	E313A	probably damaging	Het
Or10d4c	G	A	9: 39,558,646 (GRCm39)	C208Y	probably damaging	Het
Or52b2	C	A	7: 104,986,814 (GRCm39)	M36I	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m8	T	A	2: 85,822,726 (GRCm39)	C188*	probably null	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgap4	T	C	4: 49,586,566 (GRCm39)	T201A	probably benign	Het
Phldb1	C	A	9: 44,612,964 (GRCm39)	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,613,040 (GRCm39)	E449*	probably null	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Pstpip1	T	C	9: 56,033,929 (GRCm39)	V301A	probably benign	Het
Ptdss1	G	A	13: 67,081,636 (GRCm39)	R22H	probably damaging	Het
Ptprq	A	G	10: 107,541,443 (GRCm39)	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,188,714 (GRCm39)	V1309E	possibly damaging	Het
Rere	T	C	4: 150,695,438 (GRCm39)		probably benign	Het
Sbk3	T	A	7: 4,970,404 (GRCm39)	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,335,354 (GRCm39)	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,233,442 (GRCm39)		probably benign	Het
Sik3	C	A	9: 46,120,109 (GRCm39)	Q683K	probably damaging	Het
Slc24a5	A	G	2: 124,927,621 (GRCm39)	I307V	probably benign	Het
Smg6	A	G	11: 74,820,647 (GRCm39)	D306G	probably damaging	Het
Snx13	G	A	12: 35,136,899 (GRCm39)	W120*	probably null	Het
Snx5	A	G	2: 144,099,128 (GRCm39)		probably benign	Het
Srsf5	T	C	12: 80,994,298 (GRCm39)	S76P	probably benign	Het
Stard6	A	G	18: 70,629,186 (GRCm39)	D31G	probably damaging	Het
Taf3	A	G	2: 9,956,709 (GRCm39)	M333T	probably benign	Het
Taf6	T	G	5: 138,179,409 (GRCm39)	I377L	probably benign	Het
Taf8	G	T	17: 47,804,505 (GRCm39)	N252K	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Tmtc4	C	T	14: 123,215,572 (GRCm39)	V25M	probably damaging	Het
Topbp1	T	A	9: 103,205,886 (GRCm39)	D841E	probably damaging	Het
Topbp1	T	A	9: 103,185,932 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,542,833 (GRCm39)	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,838,067 (GRCm39)	E928G	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,553,042 (GRCm39)	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,315,806 (GRCm39)	E87K	probably damaging	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTGGCAGTGATGACATTCGCCC -3'
(R):5'- TTGCAGGACAAACAGGCCACTC -3'

Sequencing Primer
(F):5'- actgaatgcttccagaggac -3'
(R):5'- AGGCCACTCTTCCCAAGG -3'

Posted On

2013-04-16