Mutagenetix > Incidental Mutation

Incidental Mutation 'R7509:Hgsnat'

581958

Institutional Source

Beutler Lab

Gene Symbol

Hgsnat

Ensembl Gene

ENSMUSG00000037260

Gene Name

heparan-alpha-glucosaminide N-acetyltransferase

Synonyms

9430010M12Rik, D8Ertd354e, Tmem76

MMRRC Submission

045582-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7509 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26434481-26466781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26445754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 380 (V380A)

Ref Sequence

ENSEMBL: ENSMUSP00000040356 (fasta)

Gene Model

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

AlphaFold

Q3UDW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037609
AA Change: V380A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040356
Gene: ENSMUSG00000037260
AA Change: V380A

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

Validation Efficiency

100% (75/75)

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
Acsm5	A	G	7: 119,133,611 (GRCm39)	S259G	probably benign	Het
Adamts16	G	T	13: 70,935,283 (GRCm39)	N436K	probably damaging	Het
Asb3	T	A	11: 30,948,507 (GRCm39)	M61K	probably benign	Het
Catspere2	A	G	1: 177,905,078 (GRCm39)	T163A	possibly damaging	Het
Ccser2	A	G	14: 36,660,602 (GRCm39)	L517P	probably damaging	Het
Cd226	A	G	18: 89,265,195 (GRCm39)	T158A	probably benign	Het
Chd6	A	T	2: 160,855,074 (GRCm39)	I778N	probably damaging	Het
Cnga4	T	C	7: 105,056,097 (GRCm39)	V336A	probably benign	Het
Cpd	C	T	11: 76,688,702 (GRCm39)	V857I	probably benign	Het
Cpm	A	G	10: 117,495,745 (GRCm39)	Y78C	probably damaging	Het
Cst7	A	T	2: 150,419,624 (GRCm39)	T97S	probably benign	Het
Cttnbp2nl	T	C	3: 104,940,046 (GRCm39)	K8E	possibly damaging	Het
Erbb4	A	T	1: 68,289,739 (GRCm39)	D767E	possibly damaging	Het
Esyt2	T	C	12: 116,329,496 (GRCm39)	S685P	probably damaging	Het
Fam110d	A	C	4: 133,979,424 (GRCm39)	V18G	probably damaging	Het
Gcfc2	T	C	6: 81,930,256 (GRCm39)	L641P	probably damaging	Het
Gcnt4	T	A	13: 97,083,678 (GRCm39)	F325I	probably benign	Het
Glg1	T	G	8: 111,985,675 (GRCm39)	S52R	probably benign	Het
Gm10577	G	A	4: 100,877,848 (GRCm39)	L16F	unknown	Het
Gm14326	C	T	2: 177,587,493 (GRCm39)	G501D	probably benign	Het
Gm1587	G	A	14: 78,034,464 (GRCm39)	P35S	unknown	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Helb	T	A	10: 119,925,719 (GRCm39)	H886L	probably damaging	Het
Hmbs	T	A	9: 44,248,208 (GRCm39)	R125S		Het
Hsd17b4	A	T	18: 50,297,749 (GRCm39)	Y346F	probably damaging	Het
Inpp4a	T	C	1: 37,426,911 (GRCm39)	L624P	probably damaging	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Itga11	C	T	9: 62,689,222 (GRCm39)	T1129I	probably benign	Het
Itih4	G	A	14: 30,617,404 (GRCm39)	V575I	probably benign	Het
Kcnn2	A	G	18: 45,816,187 (GRCm39)	T473A	probably benign	Het
Kidins220	T	C	12: 25,032,360 (GRCm39)	V31A	probably damaging	Het
Lrch1	G	A	14: 75,185,048 (GRCm39)	T18I	probably benign	Het
Ly6e	T	C	15: 74,830,135 (GRCm39)	F30L	probably damaging	Het
Med13l	A	G	5: 118,886,995 (GRCm39)	D1632G	probably damaging	Het
Mei4	T	A	9: 81,907,630 (GRCm39)	L320Q	probably damaging	Het
Mlip	T	G	9: 77,088,678 (GRCm39)	T197P	probably damaging	Het
Mon2	G	A	10: 122,868,457 (GRCm39)	A532V	probably benign	Het
Myh1	C	T	11: 67,101,287 (GRCm39)	P688S	probably benign	Het
Ncapg	G	A	5: 45,853,450 (GRCm39)	D900N	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Ntn4	A	G	10: 93,546,430 (GRCm39)	N361S	probably benign	Het
Nudt16l1	T	A	16: 4,757,082 (GRCm39)	H26Q	probably damaging	Het
Obscn	G	A	11: 58,942,455 (GRCm39)	T4348I	probably benign	Het
Or10d4b	T	A	9: 39,534,623 (GRCm39)	I66N	probably damaging	Het
Or8c20	T	A	9: 38,260,868 (GRCm39)	M157K	probably benign	Het
Pcdh7	T	A	5: 57,877,529 (GRCm39)	D361E	probably damaging	Het
Pcdhb7	C	A	18: 37,475,074 (GRCm39)	T70K	possibly damaging	Het
Pcdhga3	T	A	18: 37,808,910 (GRCm39)	Y454*	probably null	Het
Pigc	A	T	1: 161,798,545 (GRCm39)	T176S	probably benign	Het
Pola2	A	T	19: 6,011,194 (GRCm39)	S43R	probably benign	Het
Pole	A	T	5: 110,478,571 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,880,705 (GRCm39)	D956E	probably benign	Het
Polq	T	A	16: 36,880,706 (GRCm39)	C957S	probably benign	Het
Ppp3cc	G	A	14: 70,504,131 (GRCm39)	T107I	probably damaging	Het
Prss39	C	A	1: 34,539,280 (GRCm39)	H173Q	possibly damaging	Het
Reep4	A	G	14: 70,785,928 (GRCm39)	D256G	probably benign	Het
Rfc3	A	G	5: 151,570,975 (GRCm39)	V107A	probably damaging	Het
Slc19a3	A	G	1: 83,003,981 (GRCm39)	L40P	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Strada	C	A	11: 106,077,920 (GRCm39)	V15F	unknown	Het
Suco	A	T	1: 161,672,903 (GRCm39)	S440T	probably damaging	Het
Svep1	A	T	4: 58,090,683 (GRCm39)	C1595S	probably benign	Het
Synpo	G	T	18: 60,736,566 (GRCm39)	T460K	probably damaging	Het
Tagap	A	T	17: 8,147,568 (GRCm39)	I93F	probably damaging	Het
Tmtc3	A	T	10: 100,301,956 (GRCm39)	F331Y	probably damaging	Het
Tnpo1	A	C	13: 99,006,751 (GRCm39)	I225M	probably benign	Het
Tollip	A	T	7: 141,445,878 (GRCm39)	M70K	probably benign	Het
Trpm7	A	T	2: 126,691,842 (GRCm39)	I171N	probably damaging	Het
Ttc41	G	T	10: 86,549,296 (GRCm39)	E163D	probably damaging	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Vmn2r20	C	T	6: 123,362,382 (GRCm39)	V801I	probably benign	Het
Vmn2r82	G	A	10: 79,231,842 (GRCm39)	V614I	possibly damaging	Het
Vmn2r96	G	A	17: 18,802,995 (GRCm39)	E302K	probably benign	Het
Vwf	T	C	6: 125,619,132 (GRCm39)	F1270S		Het
Wdr3	A	T	3: 100,058,503 (GRCm39)	F367L	probably benign	Het
Zfp592	A	G	7: 80,688,088 (GRCm39)	S1005G	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
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
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'- TCCAATGACCCCAGTAAAGGAG -3'
(R):5'- GTGTCCTCAAGCCACATGTG -3'

Sequencing Primer
(F):5'- TAAAGGAGGGTTCCCTAGGGCTC -3'
(R):5'- CCTCAAGCCACATGTGATAATTTAC -3'

Posted On

2019-10-17