Mutagenetix > Incidental Mutation

Incidental Mutation 'R9480:Hgsnat'

716191

Institutional Source

Beutler Lab

Gene Symbol

Hgsnat

Ensembl Gene

ENSMUSG00000037260

Gene Name

heparan-alpha-glucosaminide N-acetyltransferase

Synonyms

9430010M12Rik, D8Ertd354e, Tmem76

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9480 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26434481-26466781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26442029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 499 (N499D)

Ref Sequence

ENSEMBL: ENSMUSP00000040356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037609]

AlphaFold

Q3UDW8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037609
AA Change: N499D

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040356
Gene: ENSMUSG00000037260
AA Change: N499D

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
Pfam:DUF1624	260	434	6.8e-11	PFAM
Pfam:DUF5009	286	389	2.4e-10	PFAM
transmembrane domain	494	516	N/A	INTRINSIC
transmembrane domain	523	545	N/A	INTRINSIC
transmembrane domain	560	582	N/A	INTRINSIC
transmembrane domain	587	609	N/A	INTRINSIC
transmembrane domain	629	648	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit progressive storage pathology in the CNS and peripheral organs, glycosaminoglycan accumulation in brain and most somatic organs, lysosomal distension and dysfunction, astrocytosis, microgliosis, hepatosplenomegaly, behavioral deficits and premature death. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted(3) Gene trapped(6)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,211,889 (GRCm39)	W142R	probably damaging	Het
Abcc6	A	G	7: 45,629,197 (GRCm39)	S1350P	probably damaging	Het
Abraxas2	G	T	7: 132,473,323 (GRCm39)	V84L	probably benign	Het
Adam12	T	A	7: 133,736,470 (GRCm39)	I81F	probably damaging	Het
Adam22	A	G	5: 8,193,077 (GRCm39)	V376A	probably benign	Het
Anapc11	T	A	11: 120,496,176 (GRCm39)	I60N	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,690,420 (GRCm39)	V876E	possibly damaging	Het
Bcar3	C	T	3: 122,277,618 (GRCm39)	R21*	probably null	Het
Calb1	T	A	4: 15,885,608 (GRCm39)	S60T	probably benign	Het
Ceacam9	A	G	7: 16,457,783 (GRCm39)	T99A	probably damaging	Het
Cemip2	C	A	19: 21,775,622 (GRCm39)	H288Q	possibly damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cnot1	T	C	8: 96,497,338 (GRCm39)	D213G	possibly damaging	Het
Col23a1	T	A	11: 51,207,774 (GRCm39)	C105S	unknown	Het
Cxcl2	T	C	5: 91,052,029 (GRCm39)	V45A	possibly damaging	Het
Ddx21	T	C	10: 62,434,652 (GRCm39)	T36A	probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dus2	C	T	8: 106,757,052 (GRCm39)	Q81*	probably null	Het
Fat3	T	C	9: 15,942,703 (GRCm39)	D1223G	probably damaging	Het
Fgf3	G	T	7: 144,396,619 (GRCm39)	R211L	possibly damaging	Het
Galnt17	T	A	5: 130,935,576 (GRCm39)	E369V	probably damaging	Het
Gatad2a	T	C	8: 70,388,459 (GRCm39)	D76G	probably damaging	Het
Gin1	A	G	1: 97,705,198 (GRCm39)	E96G	probably damaging	Het
Gpr55	A	C	1: 85,868,977 (GRCm39)	Y201*	probably null	Het
Hipk2	G	T	6: 38,680,377 (GRCm39)	P988T	probably benign	Het
Hivep1	A	T	13: 42,337,058 (GRCm39)	Q2379L	probably damaging	Het
Kat14	T	A	2: 144,215,745 (GRCm39)	C77S	probably damaging	Het
Klhl25	T	C	7: 75,516,120 (GRCm39)	V342A	probably damaging	Het
Krt35	T	C	11: 99,986,609 (GRCm39)	Q135R	probably benign	Het
Lhfpl2	T	A	13: 94,310,733 (GRCm39)	M1K	probably null	Het
Lipk	T	A	19: 33,999,101 (GRCm39)	L132Q	probably damaging	Het
Lrrc39	T	A	3: 116,359,475 (GRCm39)	C7S	probably benign	Het
Ltb4r2	T	A	14: 56,000,089 (GRCm39)	W237R	probably damaging	Het
Mesp2	A	G	7: 79,461,034 (GRCm39)	I120V	probably damaging	Het
Mfsd6	A	G	1: 52,699,835 (GRCm39)	V771A	unknown	Het
Mtfmt	A	T	9: 65,351,181 (GRCm39)	T243S	possibly damaging	Het
Nlrp12	A	T	7: 3,288,993 (GRCm39)	C506*	probably null	Het
Ntng2	T	A	2: 29,137,997 (GRCm39)	Y19F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Orc4	T	C	2: 48,795,563 (GRCm39)	T388A	probably benign	Het
P4hb	A	T	11: 120,463,551 (GRCm39)	V28D	probably damaging	Het
Phkb	T	G	8: 86,684,216 (GRCm39)	S424R	probably benign	Het
Poldip2	T	C	11: 78,411,988 (GRCm39)	L308S	probably damaging	Het
Prkd1	T	A	12: 50,435,283 (GRCm39)	E481D	probably benign	Het
Serping1	C	T	2: 84,600,487 (GRCm39)	S285N	probably benign	Het
Sh2d2a	A	C	3: 87,759,638 (GRCm39)	I350L	probably benign	Het
Siglecf	G	T	7: 43,001,666 (GRCm39)	V159L	possibly damaging	Het
Sspo	A	G	6: 48,470,820 (GRCm39)	N36S	probably damaging	Het
Sytl2	C	T	7: 90,020,718 (GRCm39)	T147M	possibly damaging	Het
Tmc7	A	G	7: 118,141,226 (GRCm39)	F635S	probably benign	Het
Tmco1	C	T	1: 167,157,757 (GRCm39)	L175F		Het
Ttc39d	A	G	17: 80,524,139 (GRCm39)	H266R	probably benign	Het
Usp33	T	G	3: 152,079,086 (GRCm39)	I446R	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zbtb49	T	A	5: 38,358,409 (GRCm39)	T615S	possibly damaging	Het
Zbtb8a	G	T	4: 129,253,875 (GRCm39)	H206Q	probably benign	Het
Zfp180	A	G	7: 23,804,628 (GRCm39)	N349S	probably benign	Het
Zfp345	A	T	2: 150,315,212 (GRCm39)	C108*	probably null	Het
Zfp420	T	A	7: 29,575,497 (GRCm39)	H572Q	probably benign	Het
Zfp423	A	G	8: 88,631,115 (GRCm39)		probably null	Het
Zfp820	T	A	17: 22,037,994 (GRCm39)	T445S	possibly damaging	Het
Zim1	T	C	7: 6,681,050 (GRCm39)	I204M	probably benign	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	Het

Other mutations in Hgsnat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Hgsnat	APN	8	26,462,965 (GRCm39)	missense	probably benign	0.04
IGL02950:Hgsnat	APN	8	26,461,729 (GRCm39)	missense	probably damaging	1.00
IGL03145:Hgsnat	APN	8	26,436,480 (GRCm39)	missense	probably damaging	1.00
ample	UTSW	8	26,437,988 (GRCm39)	nonsense	probably null
generous	UTSW	8	26,458,389 (GRCm39)	critical splice donor site	probably null
P0018:Hgsnat	UTSW	8	26,458,382 (GRCm39)	unclassified	probably benign
PIT4305001:Hgsnat	UTSW	8	26,435,227 (GRCm39)	missense	possibly damaging	0.67
R1396:Hgsnat	UTSW	8	26,447,363 (GRCm39)	missense	possibly damaging	0.95
R1676:Hgsnat	UTSW	8	26,444,633 (GRCm39)	critical splice donor site	probably null
R1856:Hgsnat	UTSW	8	26,447,284 (GRCm39)	missense	probably benign	0.06
R1998:Hgsnat	UTSW	8	26,435,280 (GRCm39)	nonsense	probably null
R2497:Hgsnat	UTSW	8	26,435,280 (GRCm39)	nonsense	probably null
R2570:Hgsnat	UTSW	8	26,435,280 (GRCm39)	nonsense	probably null
R4012:Hgsnat	UTSW	8	26,445,817 (GRCm39)	nonsense	probably null
R4080:Hgsnat	UTSW	8	26,436,371 (GRCm39)	missense	probably benign	0.02
R4462:Hgsnat	UTSW	8	26,444,664 (GRCm39)	missense	probably damaging	1.00
R4523:Hgsnat	UTSW	8	26,458,389 (GRCm39)	critical splice donor site	probably null
R4914:Hgsnat	UTSW	8	26,454,866 (GRCm39)	missense	probably damaging	0.98
R5010:Hgsnat	UTSW	8	26,437,988 (GRCm39)	nonsense	probably null
R5561:Hgsnat	UTSW	8	26,436,362 (GRCm39)	missense	possibly damaging	0.90
R5889:Hgsnat	UTSW	8	26,453,395 (GRCm39)	missense	probably damaging	1.00
R6411:Hgsnat	UTSW	8	26,436,303 (GRCm39)	missense	possibly damaging	0.88
R6520:Hgsnat	UTSW	8	26,443,328 (GRCm39)	missense	probably damaging	1.00
R6524:Hgsnat	UTSW	8	26,435,260 (GRCm39)	missense	probably damaging	1.00
R7230:Hgsnat	UTSW	8	26,444,860 (GRCm39)	splice site	probably null
R7462:Hgsnat	UTSW	8	26,447,241 (GRCm39)	missense	probably benign	0.45
R7509:Hgsnat	UTSW	8	26,445,754 (GRCm39)	missense	probably damaging	0.98
R7526:Hgsnat	UTSW	8	26,461,077 (GRCm39)	missense	probably damaging	1.00
R7583:Hgsnat	UTSW	8	26,461,592 (GRCm39)	critical splice donor site	probably null
R7679:Hgsnat	UTSW	8	26,444,665 (GRCm39)	missense	probably damaging	1.00
R8111:Hgsnat	UTSW	8	26,458,440 (GRCm39)	missense	probably benign	0.00
R8206:Hgsnat	UTSW	8	26,444,665 (GRCm39)	missense	probably damaging	1.00
R8321:Hgsnat	UTSW	8	26,461,179 (GRCm39)	missense	possibly damaging	0.89
R8545:Hgsnat	UTSW	8	26,445,707 (GRCm39)	missense	probably benign	0.00
R8556:Hgsnat	UTSW	8	26,443,308 (GRCm39)	critical splice donor site	probably null
R9071:Hgsnat	UTSW	8	26,436,302 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- ACAGAATTTACCAGACCCGTAG -3'
(R):5'- AATTGCCAGTGAATTTCTGCTG -3'

Sequencing Primer
(F):5'- CGTAGGGCAGCAGATGG -3'
(R):5'- GCCAGTGAATTTCTGCTGTAAAAG -3'

Posted On

2022-07-18