Mutagenetix > Incidental Mutation

Incidental Mutation 'R7829:Naglu'

602344

Institutional Source

Beutler Lab

Gene Symbol

Naglu

Ensembl Gene

ENSMUSG00000001751

Gene Name

alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)

Synonyms

MMRRC Submission

045883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7829 (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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (61/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	G	11: 58,770,823 (GRCm39)	L102V	not run	Het
Abca12	A	T	1: 71,331,580 (GRCm39)	S1323R	probably benign	Het
Abcb1a	T	A	5: 8,748,623 (GRCm39)	I318N	probably benign	Het
Adam10	A	T	9: 70,674,209 (GRCm39)	K524*	probably null	Het
Adamts3	C	T	5: 90,009,349 (GRCm39)	G105R	probably damaging	Het
Adcy7	T	C	8: 89,042,387 (GRCm39)	I418T	probably damaging	Het
Alg9	T	A	9: 50,699,471 (GRCm39)	F165L	probably damaging	Het
Anapc2	G	T	2: 25,167,753 (GRCm39)	R440L	probably damaging	Het
Arhgef17	A	T	7: 100,526,052 (GRCm39)	H1876Q	probably benign	Het
Armc2	G	A	10: 41,802,856 (GRCm39)	R606C	probably benign	Het
Cd163	T	C	6: 124,281,738 (GRCm39)	S14P	probably benign	Het
Cfap74	T	C	4: 155,513,694 (GRCm39)	V502A		Het
Copb2	T	C	9: 98,470,147 (GRCm39)	I891T	probably damaging	Het
Creb3	T	C	4: 43,566,322 (GRCm39)	L276P	probably damaging	Het
Crnkl1	T	A	2: 145,773,269 (GRCm39)	M126L	probably benign	Het
Csrp2	C	T	10: 110,771,045 (GRCm39)	A50V	probably damaging	Het
Ctsd	A	G	7: 141,930,879 (GRCm39)	C284R	probably damaging	Het
Dll3	G	A	7: 27,994,075 (GRCm39)	A454V	probably damaging	Het
Dmbx1	C	T	4: 115,781,104 (GRCm39)		probably benign	Het
Dnah6	C	A	6: 73,104,902 (GRCm39)	E1896*	probably null	Het
Dtwd1	A	G	2: 126,006,679 (GRCm39)	T234A	probably damaging	Het
Fhod3	G	A	18: 25,248,947 (GRCm39)		probably null	Het
Gm10549	C	A	18: 33,597,463 (GRCm39)		probably benign	Het
Gm7298	T	C	6: 121,742,297 (GRCm39)	I495T	probably damaging	Het
Grhl3	T	C	4: 135,288,532 (GRCm39)	N51S	probably damaging	Het
Gtpbp4	A	T	13: 9,035,366 (GRCm39)		probably null	Het
Hsd17b14	A	C	7: 45,216,209 (GRCm39)	S260R	probably benign	Het
Insig2	A	T	1: 121,235,058 (GRCm39)		probably null	Het
Itgae	T	A	11: 73,029,618 (GRCm39)	V1046D	probably benign	Het
Kif1b	A	T	4: 149,305,447 (GRCm39)		probably null	Het
Kmo	A	G	1: 175,478,225 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,496,483 (GRCm39)	N29S	probably damaging	Het
Lrp1b	A	T	2: 40,793,460 (GRCm39)	C2484*	probably null	Het
Lrrc23	T	A	6: 124,747,711 (GRCm39)	M293L	probably benign	Het
Mphosph6	T	C	8: 118,525,807 (GRCm39)	D47G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrc5	T	C	8: 95,248,397 (GRCm39)	S1711P	probably damaging	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or1o2	T	C	17: 37,543,201 (GRCm39)	E20G	probably benign	Het
Or6k2	A	T	1: 173,986,425 (GRCm39)	I29F	probably benign	Het
Osbpl6	G	A	2: 76,423,731 (GRCm39)	A857T	probably damaging	Het
Oscp1	C	A	4: 125,982,201 (GRCm39)	D380E	probably benign	Het
Pdzd7	C	A	19: 45,027,678 (GRCm39)	R265S	probably benign	Het
Piezo2	A	T	18: 63,246,947 (GRCm39)		probably null	Het
Pigc	G	A	1: 161,798,033 (GRCm39)	R5H	probably benign	Het
Pla2g5	C	A	4: 138,531,845 (GRCm39)	R53L	probably benign	Het
Rbm6	T	C	9: 107,729,905 (GRCm39)	R248G	probably damaging	Het
Rev1	A	T	1: 38,095,526 (GRCm39)	L877Q	probably damaging	Het
Rpap3	A	T	15: 97,579,589 (GRCm39)	N474K	probably benign	Het
Ryr2	T	A	13: 11,842,493 (GRCm39)	E468V	possibly damaging	Het
Samd9l	A	C	6: 3,374,749 (GRCm39)	D837E	probably benign	Het
Sipa1l2	T	C	8: 126,178,727 (GRCm39)	N1124S	probably damaging	Het
Slc11a2	G	A	15: 100,307,142 (GRCm39)	A83V	possibly damaging	Het
Slfn14	A	G	11: 83,172,643 (GRCm39)		probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Suclg1	A	G	6: 73,252,226 (GRCm39)		probably null	Het
Syne1	A	C	10: 5,292,293 (GRCm39)	V1325G	probably damaging	Het
Tmprss15	T	C	16: 78,784,538 (GRCm39)	S706G	probably benign	Het
Tox2	T	C	2: 163,162,296 (GRCm39)	Y389H	probably damaging	Het
Trappc10	T	C	10: 78,034,909 (GRCm39)	T946A	probably benign	Het
Ubqln1	C	T	13: 58,325,719 (GRCm39)	E546K	probably damaging	Het
Zfp106	A	G	2: 120,354,538 (GRCm39)	V1411A	possibly damaging	Het
Zkscan5	A	T	5: 145,155,513 (GRCm39)	K395*	probably null	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
R7828: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'- CAGCCCTTCATCTGGTGTATG -3'
(R):5'- TGTTGTACCAGACAGCGGTAC -3'

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

Posted On

2019-12-03