Mutagenetix > Incidental Mutation

Incidental Mutation 'R9179:Gns'

696904

Institutional Source

Beutler Lab

Gene Symbol

Gns

Ensembl Gene

ENSMUSG00000034707

Gene Name

glucosamine (N-acetyl)-6-sulfatase

Synonyms

2610016K11Rik, G6S

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R9179 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121200995-121233154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121216080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 276 (F276L)

Ref Sequence

ENSEMBL: ENSMUSP00000043167 (fasta)

Gene Model

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

AlphaFold

Q8BFR4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000043167
Gene: ENSMUSG00000034707
AA Change: F276L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219249

Predicted Effect

probably benign
Transcript: ENSMUST00000219505

Predicted Effect

probably benign
Transcript: ENSMUST00000219851

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	A	6: 124,333,882 (GRCm39)	M33L	probably benign	Het
2310003L06Rik	A	G	5: 88,119,890 (GRCm39)	T216A	probably benign	Het
9330161L09Rik	A	C	12: 103,373,837 (GRCm39)	C12G	unknown	Het
Ahdc1	T	A	4: 132,788,929 (GRCm39)	F57I	possibly damaging	Het
Amotl1	C	A	9: 14,461,787 (GRCm39)	A809S	possibly damaging	Het
Ankfn1	C	T	11: 89,414,011 (GRCm39)	M121I	probably benign	Het
Aspm	A	G	1: 139,404,453 (GRCm39)	D1261G	probably damaging	Het
Axl	T	C	7: 25,469,658 (GRCm39)	T502A	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Ccdc102a	A	G	8: 95,639,748 (GRCm39)	V182A	possibly damaging	Het
Cdh23	C	T	10: 60,153,664 (GRCm39)	A2309T	probably benign	Het
Cfap69	A	T	5: 5,676,064 (GRCm39)	N210K	probably benign	Het
Cnot1	A	G	8: 96,500,054 (GRCm39)	S147P	probably benign	Het
Cntnap5c	T	C	17: 58,600,912 (GRCm39)	S752P	probably benign	Het
Cyp3a41a	A	T	5: 145,642,654 (GRCm39)	M235K	probably benign	Het
Cyp4f15	A	G	17: 32,919,185 (GRCm39)	D336G	possibly damaging	Het
Dagla	A	G	19: 10,228,525 (GRCm39)	I631T	possibly damaging	Het
Dph6	C	T	2: 114,353,591 (GRCm39)	C199Y	probably damaging	Het
Ermard	T	A	17: 15,273,495 (GRCm39)	L360Q	probably damaging	Het
F830045P16Rik	T	C	2: 129,314,708 (GRCm39)	T190A	probably benign	Het
Fgfr3	G	T	5: 33,887,316 (GRCm39)	V212L	possibly damaging	Het
Flnb	C	A	14: 7,887,541 (GRCm38)	C450*	probably null	Het
Gls	T	C	1: 52,239,015 (GRCm39)	Y362C	probably damaging	Het
Gngt1	A	G	6: 3,994,246 (GRCm39)	D8G	possibly damaging	Het
Grin2d	A	G	7: 45,506,176 (GRCm39)	S572P	probably damaging	Het
Impa2	C	T	18: 67,422,473 (GRCm39)		probably benign	Het
Itgal	A	T	7: 126,905,883 (GRCm39)	D355V	probably benign	Het
Kdm6b	A	T	11: 69,297,521 (GRCm39)		probably null	Het
Klk1b1	T	A	7: 43,618,715 (GRCm39)	C31S	probably damaging	Het
Ldb3	A	T	14: 34,277,312 (GRCm39)	V354E	probably benign	Het
Mettl21c	T	A	1: 44,049,142 (GRCm39)	Y135F	probably benign	Het
Mocs1	A	G	17: 49,740,303 (GRCm39)	T77A	probably damaging	Het
Ndufs1	T	C	1: 63,209,274 (GRCm39)	N30D	probably benign	Het
Or1j11	T	C	2: 36,312,126 (GRCm39)	S239P	probably damaging	Het
Or4a71	T	A	2: 89,358,494 (GRCm39)	K87*	probably null	Het
Otog	C	A	7: 45,937,885 (GRCm39)	P1865T	possibly damaging	Het
Pabpc1l	T	C	2: 163,873,140 (GRCm39)	S137P	probably damaging	Het
Pilrb1	C	A	5: 137,855,657 (GRCm39)	W78L	probably damaging	Het
Plekha6	A	G	1: 133,214,085 (GRCm39)	Y832C	possibly damaging	Het
Ppan	C	A	9: 20,803,199 (GRCm39)	Q424K	probably benign	Het
Ppp1r12a	T	A	10: 108,087,782 (GRCm39)	N544K	probably damaging	Het
Pramel16	T	C	4: 143,676,294 (GRCm39)	E270G	probably benign	Het
Pstpip2	A	G	18: 77,961,155 (GRCm39)	D246G	possibly damaging	Het
Rasef	G	A	4: 73,662,356 (GRCm39)	T198I	probably damaging	Het
Rbm12	T	C	2: 155,938,463 (GRCm39)	H603R	probably benign	Het
Rims1	T	C	1: 22,482,490 (GRCm39)	R179G	probably damaging	Het
Scel	T	C	14: 103,811,836 (GRCm39)	L288P	possibly damaging	Het
Sel1l	A	T	12: 91,778,726 (GRCm39)	D696E	probably benign	Het
Slc4a8	A	G	15: 100,689,482 (GRCm39)	K416R	possibly damaging	Het
Tmem132b	A	T	5: 125,700,115 (GRCm39)	M218L	probably benign	Het
Tnrc6a	T	C	7: 122,791,881 (GRCm39)	S1800P	probably benign	Het
Tpcn1	A	C	5: 120,680,015 (GRCm39)	L576R	probably damaging	Het
Vmn2r34	T	G	7: 7,675,723 (GRCm39)	Q555P	possibly damaging	Het
Vwa8	C	T	14: 79,335,801 (GRCm39)	T1419I	probably benign	Het
Xrn2	T	C	2: 146,855,081 (GRCm39)	Y14H	probably benign	Het
Zfp1007	A	G	5: 109,823,708 (GRCm39)	C581R	probably damaging	Het
Zfyve28	A	T	5: 34,382,376 (GRCm39)	D241E	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
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
R9749:Gns	UTSW	10	121,214,057 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCAACCTGACCTAGTCTTAAC -3'
(R):5'- ACATGGATGGTTTAGTCAGGC -3'

Sequencing Primer
(F):5'- GACCTAGTCTTAACATGGCTTCAAC -3'
(R):5'- CTTGGGGTCCAAAGGTACCTCATG -3'

Posted On

2022-02-07