Mutagenetix > Incidental Mutation

Incidental Mutation 'R6520:Hgsnat'

521143

Institutional Source

Beutler Lab

Gene Symbol

Hgsnat

Ensembl Gene

ENSMUSG00000037260

Gene Name

heparan-alpha-glucosaminide N-acetyltransferase

Synonyms

9430010M12Rik, D8Ertd354e, Tmem76

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6520 (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 26443328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 474 (Y474C)

Ref Sequence

ENSEMBL: ENSMUSP00000040356 (fasta)

Gene Model

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

AlphaFold

Q3UDW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037609
AA Change: Y474C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040356
Gene: ENSMUSG00000037260
AA Change: Y474C

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,285 (GRCm39)	D116G	possibly damaging	Het
Adam22	C	T	5: 8,166,635 (GRCm39)	V699M	probably damaging	Het
Adh7	A	G	3: 137,929,771 (GRCm39)	Y149C	probably damaging	Het
Adissp	G	T	2: 130,989,174 (GRCm39)	H111N	probably damaging	Het
Angptl3	A	C	4: 98,926,085 (GRCm39)	N405T	probably benign	Het
Ank3	A	G	10: 69,824,217 (GRCm39)	H180R	probably damaging	Het
Apob	T	A	12: 8,033,124 (GRCm39)	I159N	probably damaging	Het
Arhgap24	T	C	5: 103,028,659 (GRCm39)	V185A	probably benign	Het
Atf6	A	T	1: 170,695,238 (GRCm39)	H11Q	probably benign	Het
Atxn3	C	A	12: 101,900,660 (GRCm39)	D208Y	probably damaging	Het
Brd9	G	A	13: 74,090,913 (GRCm39)	R273K	probably benign	Het
Cbfa2t3	T	A	8: 123,362,540 (GRCm39)	R302W	probably benign	Het
Ccdc175	C	A	12: 72,186,804 (GRCm39)	G347C	probably damaging	Het
Ccdc87	A	G	19: 4,891,817 (GRCm39)	K770E	probably damaging	Het
Ccl17	T	C	8: 95,537,178 (GRCm39)	F27L	probably benign	Het
Cd3g	A	T	9: 44,882,613 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,809,082 (GRCm39)	V498A	probably benign	Het
Cfap45	A	G	1: 172,368,151 (GRCm39)	D381G	probably damaging	Het
Cfap46	A	G	7: 139,194,321 (GRCm39)		probably null	Het
Cnrip1	T	A	11: 17,028,536 (GRCm39)	M156K	probably damaging	Het
Col23a1	T	C	11: 51,440,552 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,269,152 (GRCm39)	G933S	probably damaging	Het
Col5a3	C	T	9: 20,685,348 (GRCm39)	V1443I	unknown	Het
Col6a6	T	C	9: 105,663,024 (GRCm39)	E171G	possibly damaging	Het
Dennd1a	A	T	2: 37,851,759 (GRCm39)		probably null	Het
Dlk2	C	T	17: 46,613,438 (GRCm39)	T188I	probably damaging	Het
Dusp8	A	G	7: 141,637,418 (GRCm39)	I203T	probably damaging	Het
Eno2	C	T	6: 124,744,678 (GRCm39)	R56H	probably damaging	Het
Erich3	A	T	3: 154,469,102 (GRCm39)	T1185S	probably damaging	Het
Evi5l	A	T	8: 4,255,906 (GRCm39)	Q575L	possibly damaging	Het
Fam187a	T	A	11: 102,776,701 (GRCm39)	H168Q	possibly damaging	Het
Fat2	T	A	11: 55,175,814 (GRCm39)	E1633V	probably damaging	Het
Fbln2	G	A	6: 91,236,641 (GRCm39)	D719N	probably damaging	Het
Fbn2	A	T	18: 58,235,462 (GRCm39)	S672T	probably damaging	Het
Gas8	C	G	8: 124,253,213 (GRCm39)	A187G	probably benign	Het
Gm2696	G	A	10: 77,672,332 (GRCm39)		probably benign	Het
Gnl1	A	T	17: 36,293,845 (GRCm39)	K272M	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hemgn	T	G	4: 46,396,466 (GRCm39)	K257Q	probably damaging	Het
Hoxc4	T	C	15: 102,943,380 (GRCm39)	S78P	probably benign	Het
Igkv14-100	T	A	6: 68,496,218 (GRCm39)	L37Q	probably damaging	Het
Iqck	A	T	7: 118,540,854 (GRCm39)	K251M	probably damaging	Het
Itgal	A	T	7: 126,929,503 (GRCm39)	Q1140L	probably benign	Het
Itpka	A	G	2: 119,581,259 (GRCm39)	R431G	probably benign	Het
Jade1	A	G	3: 41,558,917 (GRCm39)	N333D	possibly damaging	Het
Jmjd7	A	G	2: 119,861,800 (GRCm39)	H181R	probably damaging	Het
Jmy	A	G	13: 93,590,547 (GRCm39)	S519P	probably benign	Het
Klra10	T	A	6: 130,252,755 (GRCm39)	H173L	probably benign	Het
Krt72	T	G	15: 101,689,481 (GRCm39)	I284L	probably benign	Het
Krt78	C	A	15: 101,860,206 (GRCm39)	V237F	probably benign	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Mcmbp	A	C	7: 128,314,451 (GRCm39)	V255G	possibly damaging	Het
Mcoln1	T	G	8: 3,555,855 (GRCm39)	M50R	probably damaging	Het
Mocos	T	A	18: 24,799,447 (GRCm39)	V227E	probably benign	Het
Mpeg1	A	G	19: 12,439,322 (GRCm39)	E260G	probably benign	Het
Mrc1	A	T	2: 14,312,760 (GRCm39)	N894I	probably damaging	Het
Mroh7	A	G	4: 106,578,460 (GRCm39)	S73P	probably benign	Het
Myo3a	A	T	2: 22,404,737 (GRCm39)	I690L	possibly damaging	Het
Naa50	T	G	16: 43,979,872 (GRCm39)	F87V	probably damaging	Het
Ndufs6	G	T	13: 73,476,471 (GRCm39)	T32K	probably damaging	Het
Nfe2l2	A	G	2: 75,506,912 (GRCm39)	V396A	probably benign	Het
Nptn	A	G	9: 58,551,017 (GRCm39)	E348G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Or56b1b	A	G	7: 108,164,046 (GRCm39)	*319Q	probably null	Het
Or8d6	T	C	9: 39,853,658 (GRCm39)	I34T	possibly damaging	Het
Or8k36-ps1	A	G	2: 86,437,462 (GRCm39)	L151P	unknown	Het
Plekha7	A	G	7: 115,763,717 (GRCm39)	V233A	probably benign	Het
Polq	C	A	16: 36,880,739 (GRCm39)	Q968K	possibly damaging	Het
Prmt7	C	T	8: 106,961,516 (GRCm39)	T143M	probably damaging	Het
Ptprc	G	A	1: 138,007,881 (GRCm39)	Q886*	probably null	Het
Rbp7	C	A	4: 149,537,371 (GRCm39)	V36L	possibly damaging	Het
Rev3l	A	T	10: 39,698,698 (GRCm39)	N1065I	probably benign	Het
Scamp5	A	T	9: 57,354,489 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,316,118 (GRCm39)	S1698P	probably damaging	Het
Spr	C	A	6: 85,114,474 (GRCm39)	R85L	probably benign	Het
Sptlc2	A	C	12: 87,402,436 (GRCm39)	N163K	probably benign	Het
Stk10	C	T	11: 32,538,839 (GRCm39)	T226M	probably damaging	Het
Sv2c	A	G	13: 96,123,229 (GRCm39)	Y415H	probably benign	Het
Tet1	A	G	10: 62,715,792 (GRCm39)	M1T	probably null	Het
Tnnt1	T	A	7: 4,512,060 (GRCm39)	K150*	probably null	Het
Trappc10	C	T	10: 78,037,287 (GRCm39)	V839M	probably benign	Het
Ubap2	T	C	4: 41,195,155 (GRCm39)	N1131S	probably damaging	Het
Upk2	T	C	9: 44,364,803 (GRCm39)	E132G	probably damaging	Het
Vmn2r117	A	T	17: 23,679,193 (GRCm39)	V677D	probably damaging	Het
Vps13a	A	T	19: 16,702,943 (GRCm39)	L670H	probably damaging	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zfp512	G	A	5: 31,623,984 (GRCm39)	R67H	probably damaging	Het
Zfp804b	T	A	5: 6,819,283 (GRCm39)	H1260L	probably damaging	Het
Zzef1	C	A	11: 72,716,891 (GRCm39)	N360K	probably damaging	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
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'- ATGCCTTTACCTGCCAACG -3'
(R):5'- AACACTAAGTTCAGGGGCTGG -3'

Sequencing Primer
(F):5'- TTTACCTGCCAACGGGAAGTG -3'
(R):5'- AGGCTGTTTGAACCCTGC -3'

Posted On

2018-06-06