Mutagenetix > Incidental Mutation

Incidental Mutation 'R7828:Naglu'

602454

Institutional Source

Beutler Lab

Gene Symbol

Naglu

Ensembl Gene

ENSMUSG00000001751

Gene Name

alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)

Synonyms

MMRRC Submission

045882-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7828 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100960859-100968498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100967436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 462 (R462H)

Ref Sequence

ENSEMBL: ENSMUSP00000001802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001802] [ENSMUST00000019445]

AlphaFold

O88325

Predicted Effect

probably damaging
Transcript: ENSMUST00000001802
AA Change: R462H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751
AA Change: R462H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:NAGLU_N	28	114	4.8e-24	PFAM
Pfam:NAGLU	128	463	8.2e-150	PFAM
Pfam:NAGLU_C	471	731	4.5e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019445

SMART Domains

Protein: ENSMUSP00000019445
Gene: ENSMUSG00000019301

Domain	Start	End	E-Value	Type
Pfam:KR	4	174	3.5e-9	PFAM
Pfam:adh_short	4	200	1.6e-37	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced open field activity, massive accumulation of heparan sulfate in kidney and liver, elevated gangliosides in brain, and presence of vacuoles in macrophages, epithelial cells, and neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,254,904 (GRCm39)	T869A	probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arid1b	C	A	17: 5,147,943 (GRCm39)	P615Q	probably damaging	Het
Asb16	C	A	11: 102,168,753 (GRCm39)	Q410K	probably benign	Het
Ash2l	T	C	8: 26,313,214 (GRCm39)	E335G	possibly damaging	Het
AU041133	C	T	10: 81,987,054 (GRCm39)	H236Y	probably damaging	Het
Bhmt	T	A	13: 93,754,156 (GRCm39)	Y351F	possibly damaging	Het
Birc6	T	C	17: 74,886,501 (GRCm39)	S610P	probably damaging	Het
Cab39l	T	C	14: 59,737,159 (GRCm39)		probably null	Het
Cdc7	A	T	5: 107,120,816 (GRCm39)	Q146L	possibly damaging	Het
Cdk18	T	C	1: 132,044,642 (GRCm39)	H328R	possibly damaging	Het
Cdsn	T	C	17: 35,865,878 (GRCm39)	S136P	unknown	Het
Ces3b	T	A	8: 105,813,228 (GRCm39)	L203Q	probably damaging	Het
Cgn	A	G	3: 94,676,489 (GRCm39)	V840A	probably damaging	Het
Ctse	T	C	1: 131,590,491 (GRCm39)	L71P	probably damaging	Het
Ears2	G	T	7: 121,647,563 (GRCm39)	S240R	probably benign	Het
Edem3	A	G	1: 151,687,386 (GRCm39)	I756V	possibly damaging	Het
Epas1	T	C	17: 87,135,127 (GRCm39)	Y587H	probably benign	Het
Fcamr	G	T	1: 130,739,443 (GRCm39)	A248S	probably damaging	Het
Gm14496	G	A	2: 181,633,171 (GRCm39)	W51*	probably null	Het
Hfm1	A	T	5: 107,029,657 (GRCm39)		probably null	Het
Hhip	T	C	8: 80,724,837 (GRCm39)	I312V	probably benign	Het
Hmcn2	C	A	2: 31,295,887 (GRCm39)	N2658K	possibly damaging	Het
Iars1	T	A	13: 49,878,748 (GRCm39)	M948K	probably benign	Het
Il27ra	A	G	8: 84,758,187 (GRCm39)	L521S	probably damaging	Het
Itpr1	A	G	6: 108,459,892 (GRCm39)	D2062G	probably damaging	Het
Jag2	G	T	12: 112,876,800 (GRCm39)	R784S	probably benign	Het
Maea	T	A	5: 33,517,722 (GRCm39)	D87E	probably benign	Het
Man2a2	A	G	7: 80,016,674 (GRCm39)	I380T	probably damaging	Het
Mprip	G	T	11: 59,627,915 (GRCm39)	G253W	probably damaging	Het
Nrxn1	T	A	17: 90,366,979 (GRCm39)	I342F	probably damaging	Het
Oosp1	C	A	19: 11,668,369 (GRCm39)	V5L	probably benign	Het
Or10q3	A	T	19: 11,848,169 (GRCm39)	M137K	probably damaging	Het
Or5b113	G	A	19: 13,342,510 (GRCm39)	V173I	probably benign	Het
Or6c74	A	G	10: 129,869,756 (GRCm39)	D87G	probably damaging	Het
Or7g12	T	C	9: 18,900,216 (GRCm39)	S311P	probably benign	Het
Pbrm1	T	C	14: 30,752,848 (GRCm39)	M95T	probably damaging	Het
Pcdh17	C	G	14: 84,770,425 (GRCm39)	R968G	probably damaging	Het
Pcdhb7	T	G	18: 37,476,915 (GRCm39)	S684A	probably damaging	Het
Polr1b	T	G	2: 128,947,200 (GRCm39)	I175R	probably damaging	Het
Ppp3ca	A	G	3: 136,503,535 (GRCm39)	D36G	probably damaging	Het
Prr14l	G	A	5: 33,001,735 (GRCm39)		probably benign	Het
Rcn2	A	T	9: 55,960,266 (GRCm39)	I178F	probably benign	Het
Sbspon	T	G	1: 15,930,543 (GRCm39)	K148Q	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setd7	T	A	3: 51,444,078 (GRCm39)		probably null	Het
Sh2d5	C	A	4: 137,984,108 (GRCm39)	P85T	probably benign	Het
Slc12a1	T	A	2: 125,008,602 (GRCm39)	V204D	possibly damaging	Het
Slc2a8	G	A	2: 32,870,080 (GRCm39)	R154*	probably null	Het
Slc36a3	C	T	11: 55,042,024 (GRCm39)	G42S	probably benign	Het
Spink5	A	G	18: 44,143,296 (GRCm39)	K751R	probably benign	Het
Sult2a5	T	A	7: 13,362,768 (GRCm39)		probably null	Het
Thoc5	T	C	11: 4,852,306 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,805,381 (GRCm39)	S153P	probably damaging	Het
Ubap2	A	T	4: 41,221,615 (GRCm39)	L228Q	probably benign	Het
Upk3b	G	A	5: 136,068,993 (GRCm39)	G121S	possibly damaging	Het
Usp1	T	A	4: 98,820,544 (GRCm39)	S456R	probably damaging	Het
Usp28	A	T	9: 48,915,202 (GRCm39)	N126Y	possibly damaging	Het
Wdfy4	C	T	14: 32,710,878 (GRCm39)	V2411M	possibly damaging	Het
Zfp595	C	T	13: 67,465,769 (GRCm39)	E165K	probably damaging	Het

Other mutations in Naglu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00845:Naglu	APN	11	100,967,778 (GRCm39)	missense	possibly damaging	0.84
IGL01025:Naglu	APN	11	100,964,773 (GRCm39)	missense	probably benign	0.01
IGL01775:Naglu	APN	11	100,964,921 (GRCm39)	missense	probably damaging	1.00
ingest	UTSW	11	100,962,007 (GRCm39)	missense	probably damaging	1.00
tragar	UTSW	11	100,963,056 (GRCm39)	missense	probably benign	0.10
tulane	UTSW	11	100,961,158 (GRCm39)	missense	probably benign	0.01
R0044:Naglu	UTSW	11	100,962,043 (GRCm39)	missense	probably damaging	0.99
R0281:Naglu	UTSW	11	100,964,853 (GRCm39)	missense	probably damaging	0.99
R0395:Naglu	UTSW	11	100,964,933 (GRCm39)	unclassified	probably benign
R1624:Naglu	UTSW	11	100,967,351 (GRCm39)	missense	probably damaging	1.00
R1739:Naglu	UTSW	11	100,967,229 (GRCm39)	missense	possibly damaging	0.88
R2092:Naglu	UTSW	11	100,967,546 (GRCm39)	missense	possibly damaging	0.94
R4118:Naglu	UTSW	11	100,964,908 (GRCm39)	missense	probably benign	0.39
R4582:Naglu	UTSW	11	100,962,755 (GRCm39)	missense	probably damaging	0.97
R4792:Naglu	UTSW	11	100,961,932 (GRCm39)	missense	probably damaging	1.00
R4834:Naglu	UTSW	11	100,967,814 (GRCm39)	missense	probably benign
R5232:Naglu	UTSW	11	100,960,976 (GRCm39)	missense	probably benign	0.02
R5387:Naglu	UTSW	11	100,967,550 (GRCm39)	missense	probably damaging	1.00
R6463:Naglu	UTSW	11	100,968,177 (GRCm39)	splice site	probably null
R6483:Naglu	UTSW	11	100,962,007 (GRCm39)	missense	probably damaging	1.00
R7141:Naglu	UTSW	11	100,963,056 (GRCm39)	missense	probably benign	0.10
R7187:Naglu	UTSW	11	100,961,158 (GRCm39)	missense	probably benign	0.01
R7232:Naglu	UTSW	11	100,967,252 (GRCm39)	missense	probably damaging	1.00
R7478:Naglu	UTSW	11	100,962,725 (GRCm39)	missense	probably damaging	1.00
R7829:Naglu	UTSW	11	100,967,436 (GRCm39)	missense	probably damaging	0.99
R8512:Naglu	UTSW	11	100,961,168 (GRCm39)	missense	probably benign	0.09
R9131:Naglu	UTSW	11	100,967,731 (GRCm39)	missense	probably damaging	1.00
R9145:Naglu	UTSW	11	100,961,940 (GRCm39)	missense	probably damaging	1.00
X0023:Naglu	UTSW	11	100,962,840 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GCCCTTCATCTGGTGTATGC -3'
(R):5'- GATCTGTTGTACCAGACAGCG -3'

Sequencing Primer
(F):5'- TGTATGCTCCACAACTTTGGG -3'
(R):5'- CAGACAGCGGTACTCATCTGTAG -3'

Posted On

2019-12-03