Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Hgsnat'

582997

Institutional Source

Beutler Lab

Gene Symbol

Hgsnat

Ensembl Gene

ENSMUSG00000037260

Gene Name

heparan-alpha-glucosaminide N-acetyltransferase

Synonyms

D8Ertd354e, 9430010M12Rik, Tmem76

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_029884.1; MGI:1196297

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25944453-25976753 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25971049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 187 (L187P)

Ref Sequence

ENSEMBL: ENSMUSP00000040356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037609] [ENSMUST00000211550]

AlphaFold

Q3UDW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037609
AA Change: L187P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040356
Gene: ENSMUSG00000037260
AA Change: L187P

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

probably damaging
Transcript: ENSMUST00000211550
AA Change: L114P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,152,981	F85I	unknown	Het
Ankrd22	A	T	19: 34,149,365	W22R	possibly damaging	Het
Aqr	A	T	2: 114,108,109	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609	E791G	probably damaging	Het
Bicd1	T	G	6: 149,513,726	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,599	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,851	H465R	probably damaging	Het
Card11	A	T	5: 140,913,429		probably null	Het
Ccdc9	A	G	7: 16,282,400	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,909,945	M355K	probably benign	Het
Cnot2	A	T	10: 116,507,080	V116E	probably benign	Het
Defb48	A	G	14: 62,977,831	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,777,651	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,400,957	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,287,876	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,527,493	V71I	probably benign	Het
Dzip3	A	T	16: 48,975,474	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,674,410		probably null	Het
Eogt	A	G	6: 97,113,952	F409L	probably damaging	Het
Erich6	A	T	3: 58,630,689	L218H	probably damaging	Het
Fam186a	G	C	15: 99,941,915	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,023,427	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,660,206	T501S	probably damaging	Het
Fmn1	A	C	2: 113,688,134	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,736,092	P170Q	probably benign	Het
Gm13101	A	T	4: 143,965,817	C205S	probably benign	Het
Gm14326	G	A	2: 177,946,505	H233Y	probably damaging	Het
Gm19410	G	A	8: 35,790,612	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm2832	A	T	14: 41,280,962	I143L		Het
Gm7534	T	C	4: 134,200,073		probably null	Het
Greb1	G	A	12: 16,716,765	T344I	probably benign	Het
Grik2	A	T	10: 49,523,822	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,973,051	N212D	probably benign	Het
Hmcn1	A	G	1: 150,656,573	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,294	I96N	unknown	Het
Il18r1	T	A	1: 40,471,772	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,799	V80I	probably damaging	Het
Kif18b	T	C	11: 102,914,667	I255V	probably damaging	Het
Kif2c	A	T	4: 117,182,432	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,558,038	W572R	probably damaging	Het
Mybphl	A	G	3: 108,374,180	T71A	probably benign	Het
Myo7a	G	T	7: 98,085,448	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,079,083	S195P	probably damaging	Het
Nrg1	T	C	8: 31,818,323	N603S	probably benign	Het
Olfr1054	A	T	2: 86,333,353	M1K	probably null	Het
Olfr1084	A	G	2: 86,639,669	I13T	possibly damaging	Het
Olfr629	T	C	7: 103,740,400	Y280C	probably damaging	Het
Parp8	T	C	13: 116,894,805	E457G	probably damaging	Het
Pclo	T	C	5: 14,521,062	F154L	probably benign	Het
Pear1	A	G	3: 87,752,568	S704P	probably damaging	Het
Pkib	A	G	10: 57,736,298	T92A	probably benign	Het
Pnpla7	A	G	2: 24,998,666	R376G	possibly damaging	Het
Ptprd	T	A	4: 76,066,327	E527D	probably benign	Het
Pum1	T	C	4: 130,747,026	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,284	Q238*	probably null	Het
Scn9a	A	C	2: 66,483,646	N1909K	probably benign	Het
Sema3c	A	T	5: 17,727,596	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,689,728	C201S	probably damaging	Het
Serinc2	T	A	4: 130,258,790	D206V	probably benign	Het
Serping1	A	T	2: 84,767,293	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,548,872	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,431,383	E262G	probably benign	Het
Slc5a8	A	G	10: 88,902,491	I205M	probably damaging	Het
Sod2	G	T	17: 13,008,031		probably benign	Het
Tec	T	C	5: 72,786,019	I118V	probably benign	Het
Tenm3	A	T	8: 48,287,812	V1212E	probably damaging	Het
Tex44	G	A	1: 86,426,515	V49I	probably benign	Het
Tmem132d	A	T	5: 127,784,141	L972*	probably null	Het
Tpte	G	A	8: 22,325,547		probably null	Het
Trim6	T	A	7: 104,232,832	I456N	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Ubxn8	A	T	8: 33,633,607	N101K	probably benign	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Vmn2r83	A	G	10: 79,491,558	T667A	probably damaging	Het

Other mutations in Hgsnat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Hgsnat	APN	8	25972937	missense	probably benign	0.04
IGL02950:Hgsnat	APN	8	25971701	missense	probably damaging	1.00
IGL03145:Hgsnat	APN	8	25946452	missense	probably damaging	1.00
ample	UTSW	8	25947960	nonsense	probably null
generous	UTSW	8	25968361	critical splice donor site	probably null
P0018:Hgsnat	UTSW	8	25968354	unclassified	probably benign
PIT4305001:Hgsnat	UTSW	8	25945199	missense	possibly damaging	0.67
R1396:Hgsnat	UTSW	8	25957335	missense	possibly damaging	0.95
R1676:Hgsnat	UTSW	8	25954605	critical splice donor site	probably null
R1856:Hgsnat	UTSW	8	25957256	missense	probably benign	0.06
R1998:Hgsnat	UTSW	8	25945252	nonsense	probably null
R2497:Hgsnat	UTSW	8	25945252	nonsense	probably null
R2570:Hgsnat	UTSW	8	25945252	nonsense	probably null
R4012:Hgsnat	UTSW	8	25955789	nonsense	probably null
R4080:Hgsnat	UTSW	8	25946343	missense	probably benign	0.02
R4462:Hgsnat	UTSW	8	25954636	missense	probably damaging	1.00
R4523:Hgsnat	UTSW	8	25968361	critical splice donor site	probably null
R4914:Hgsnat	UTSW	8	25964838	missense	probably damaging	0.98
R5010:Hgsnat	UTSW	8	25947960	nonsense	probably null
R5561:Hgsnat	UTSW	8	25946334	missense	possibly damaging	0.90
R5889:Hgsnat	UTSW	8	25963367	missense	probably damaging	1.00
R6411:Hgsnat	UTSW	8	25946275	missense	possibly damaging	0.88
R6520:Hgsnat	UTSW	8	25953300	missense	probably damaging	1.00
R6524:Hgsnat	UTSW	8	25945232	missense	probably damaging	1.00
R7230:Hgsnat	UTSW	8	25954832	splice site	probably null
R7462:Hgsnat	UTSW	8	25957213	missense	probably benign	0.45
R7509:Hgsnat	UTSW	8	25955726	missense	probably damaging	0.98
R7583:Hgsnat	UTSW	8	25971564	critical splice donor site	probably null
R7679:Hgsnat	UTSW	8	25954637	missense	probably damaging	1.00
R8111:Hgsnat	UTSW	8	25968412	missense	probably benign	0.00
R8206:Hgsnat	UTSW	8	25954637	missense	probably damaging	1.00
R8321:Hgsnat	UTSW	8	25971151	missense	possibly damaging	0.89
R8545:Hgsnat	UTSW	8	25955679	missense	probably benign	0.00
R8556:Hgsnat	UTSW	8	25953280	critical splice donor site	probably null
R9071:Hgsnat	UTSW	8	25946274	missense	possibly damaging	0.76
R9480:Hgsnat	UTSW	8	25952001	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACCTAGCAGTATCATATGGTGC -3'
(R):5'- ATCATTCTTTGCTGATGCTGTTAGC -3'

Sequencing Primer
(F):5'- CAAACACTTCAGCGTGTGTG -3'
(R):5'- CACAGTTCCAAATGTTGTGGTGACC -3'

Posted On

2019-10-17