Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Hgsnat'

252372

Institutional Source

Beutler Lab

Gene Symbol

Hgsnat

Ensembl Gene

ENSMUSG00000037260

Gene Name

heparan-alpha-glucosaminide N-acetyltransferase

Synonyms

9430010M12Rik, D8Ertd354e, Tmem76

MMRRC Submission

040428-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26434481-26466781 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 26435280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 618 (W618*)

Ref Sequence

ENSEMBL: ENSMUSP00000040356 (fasta)

Gene Model

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

AlphaFold

Q3UDW8

Predicted Effect

probably null
Transcript: ENSMUST00000037609
AA Change: W618*

SMART Domains

Protein: ENSMUSP00000040356
Gene: ENSMUSG00000037260
AA Change: W618*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210894

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,768,267 (GRCm39)	N763I	probably damaging	Het
Actr8	T	C	14: 29,709,239 (GRCm39)	V281A	probably damaging	Het
Adam1b	A	T	5: 121,639,811 (GRCm39)	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,816,657 (GRCm39)	Q77L	probably damaging	Het
Adgre4	T	A	17: 56,085,878 (GRCm39)	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,192,163 (GRCm39)	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,677,320 (GRCm39)	T434S	probably benign	Het
Bcl10	T	A	3: 145,638,785 (GRCm39)	N142K	probably benign	Het
C1qc	T	C	4: 136,617,402 (GRCm39)	I231M	probably benign	Het
Cacna1b	A	T	2: 24,496,649 (GRCm39)	L2307*	probably null	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 179,977,742 (GRCm39)	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,094,618 (GRCm39)	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cspg4b	C	T	13: 113,455,121 (GRCm39)	T389I	probably benign	Het
Cyp2c50	C	G	19: 40,078,764 (GRCm39)	H90D	probably benign	Het
Dach1	A	G	14: 98,138,847 (GRCm39)	M480T	probably benign	Het
Dennd1a	A	T	2: 37,734,795 (GRCm39)	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,443,029 (GRCm39)	F355L	probably benign	Het
Drc1	A	G	5: 30,512,609 (GRCm39)	R339G	probably damaging	Het
Efcab3	T	A	11: 104,624,490 (GRCm39)	S840R	probably damaging	Het
Efna5	A	T	17: 63,188,023 (GRCm39)	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,705,753 (GRCm39)	V811A	probably damaging	Het
Fam135a	A	T	1: 24,061,045 (GRCm39)	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,924,740 (GRCm39)	R28L	probably damaging	Het
Gm9936	A	G	5: 114,995,605 (GRCm39)		probably benign	Het
Itgal	T	C	7: 126,913,268 (GRCm39)	F622L	probably damaging	Het
Kalrn	C	T	16: 34,130,865 (GRCm39)	E451K	probably damaging	Het
Kat2a	A	T	11: 100,601,648 (GRCm39)	F256I	probably damaging	Het
Lama4	A	T	10: 38,951,354 (GRCm39)	D1033V	possibly damaging	Het
Lama4	T	A	10: 38,982,043 (GRCm39)	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,659,358 (GRCm39)	Y212H	probably damaging	Het
Lsm10	T	C	4: 125,991,716 (GRCm39)	L24P	probably damaging	Het
Mtcl3	A	T	10: 29,022,761 (GRCm39)	Q36L	possibly damaging	Het
Mtfp1	T	C	11: 4,044,504 (GRCm39)	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,254,678 (GRCm39)	D399E	probably benign	Het
Ncor2	T	C	5: 125,105,864 (GRCm39)		probably null	Het
Nek9	A	C	12: 85,379,320 (GRCm39)	Y195*	probably null	Het
Npas1	T	C	7: 16,208,628 (GRCm39)	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,211,741 (GRCm39)	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,943,503 (GRCm39)	N10S	probably benign	Het
Or2ag12	A	G	7: 106,276,874 (GRCm39)	I273T	probably benign	Het
Or55b10	T	C	7: 102,143,106 (GRCm39)	N292S	probably damaging	Het
Or7e165	T	A	9: 19,695,305 (GRCm39)	L292Q	probably damaging	Het
Pcdha4	A	T	18: 37,086,665 (GRCm39)	T283S	probably benign	Het
Pdk1	A	C	2: 71,703,904 (GRCm39)	D64A	possibly damaging	Het
Pramel17	T	C	4: 101,694,443 (GRCm39)	T147A	probably benign	Het
Ptpdc1	C	T	13: 48,739,539 (GRCm39)	A631T	probably benign	Het
Rasal2	G	T	1: 156,988,870 (GRCm39)	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,336,787 (GRCm39)	V55E	possibly damaging	Het
Shank2	A	T	7: 143,622,507 (GRCm39)	I214F	probably damaging	Het
Slfn14	T	C	11: 83,174,433 (GRCm39)	N186S	probably benign	Het
Sptbn5	A	T	2: 119,879,121 (GRCm39)		noncoding transcript	Het
Stradb	C	T	1: 59,027,743 (GRCm39)	T91I	probably damaging	Het
Sulf2	T	C	2: 165,927,721 (GRCm39)	I359V	probably benign	Het
Tbl3	A	T	17: 24,922,290 (GRCm39)	M405K	possibly damaging	Het
Tecta	G	T	9: 42,243,848 (GRCm39)	D2001E	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgfbi	T	A	13: 56,786,521 (GRCm39)		probably null	Het
Tmem132a	A	T	19: 10,837,106 (GRCm39)	L612Q	probably null	Het
Tnf	T	C	17: 35,419,476 (GRCm39)	N102S	probably damaging	Het
Trib3	A	T	2: 152,185,156 (GRCm39)	V31D	probably benign	Het
Ube2q2	T	A	9: 55,099,140 (GRCm39)	F248L	probably benign	Het
Usf3	T	C	16: 44,036,744 (GRCm39)	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,542,307 (GRCm39)	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,447,585 (GRCm39)	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,318,673 (GRCm39)	N451T	probably damaging	Het
Zfp593	C	A	4: 133,972,869 (GRCm39)		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
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
R9480:Hgsnat	UTSW	8	26,442,029 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GAAGCAATCCCCTCTGTGAG -3'
(R):5'- TGTACTTCACAGCCAAGCTACG -3'

Sequencing Primer
(F):5'- CTCTGTGAGGGAGGCTGC -3'
(R):5'- AAGCTACGCCTCATGCATGTG -3'

Posted On

2014-12-04