Mutagenetix > Incidental Mutation

Incidental Mutation 'R8512:Naglu'

655946

Institutional Source

Beutler Lab

Gene Symbol

Naglu

Ensembl Gene

ENSMUSG00000001751

Gene Name

alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)

Synonyms

MMRRC Submission

067846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8512 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100960859-100968498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100961168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 73 (V73A)

Ref Sequence

ENSEMBL: ENSMUSP00000001802 (fasta)

Gene Model

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

AlphaFold

O88325

Predicted Effect

probably benign
Transcript: ENSMUST00000001802
AA Change: V73A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751
AA Change: V73A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,125,760 (GRCm39)		probably null	Het
Akap13	T	C	7: 75,260,834 (GRCm39)	S350P	probably damaging	Het
Celsr2	A	G	3: 108,321,154 (GRCm39)	F553L	probably damaging	Het
Ces3a	A	T	8: 105,784,661 (GRCm39)	T548S	probably benign	Het
Chtf8	G	A	8: 107,612,066 (GRCm39)	T291I	probably benign	Het
Ckmt1	A	T	2: 121,191,689 (GRCm39)	R286S	probably damaging	Het
Dnajb2	C	T	1: 75,218,075 (GRCm39)	R191W		Het
Dtnbp1	G	T	13: 45,075,867 (GRCm39)	A292E	probably benign	Het
Esrrg	T	G	1: 187,775,777 (GRCm39)	Y101*	probably null	Het
Etaa1	G	A	11: 17,897,442 (GRCm39)	S225L	probably damaging	Het
Evi5l	A	G	8: 4,243,121 (GRCm39)	Y335C	probably benign	Het
Fcho2	T	C	13: 98,891,730 (GRCm39)	D344G	possibly damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gsdmc2	C	T	15: 63,706,864 (GRCm39)	V101I	probably null	Het
Gsdmc4	A	G	15: 63,763,808 (GRCm39)	C430R	probably damaging	Het
Irak4	A	C	15: 94,464,659 (GRCm39)	I410L	probably benign	Het
Kirrel1	A	G	3: 86,995,534 (GRCm39)	V436A	probably benign	Het
Lrrc30	T	A	17: 67,938,947 (GRCm39)	Q211L	probably damaging	Het
Map4k1	C	T	7: 28,695,583 (GRCm39)	H512Y	possibly damaging	Het
Matn3	T	A	12: 9,011,183 (GRCm39)	S365T	probably benign	Het
Msantd2	T	C	9: 37,434,231 (GRCm39)	I358T	possibly damaging	Het
Msantd5	T	A	11: 51,125,487 (GRCm39)	S137T	probably benign	Het
Msx3	G	T	7: 139,628,884 (GRCm39)	A10E	probably benign	Het
Muc16	T	C	9: 18,549,488 (GRCm39)	T5602A	probably benign	Het
Myh2	T	C	11: 67,081,187 (GRCm39)	S1268P	probably benign	Het
Mynn	C	T	3: 30,670,798 (GRCm39)	P557S	probably damaging	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Or10al3	T	A	17: 38,012,071 (GRCm39)	F170Y	probably damaging	Het
Or6c75	T	A	10: 129,337,496 (GRCm39)	S240T	probably damaging	Het
P2rx3	C	T	2: 84,854,755 (GRCm39)	E100K	probably damaging	Het
Pnisr	C	T	4: 21,870,372 (GRCm39)	Q375*	probably null	Het
Psmb9	C	T	17: 34,402,602 (GRCm39)	C126Y	probably benign	Het
Ptprt	A	G	2: 161,400,783 (GRCm39)	F1085L	probably benign	Het
Rev3l	A	G	10: 39,697,534 (GRCm39)	Y677C	probably damaging	Het
Rftn2	G	A	1: 55,253,324 (GRCm39)	P93L	probably damaging	Het
Rtl1	T	A	12: 109,561,051 (GRCm39)	M263L	unknown	Het
Sec24c	T	C	14: 20,740,920 (GRCm39)	V722A	possibly damaging	Het
Slc2a7	T	C	4: 150,247,752 (GRCm39)	L384P	probably benign	Het
Slc6a11	T	C	6: 114,215,402 (GRCm39)	L434P	probably damaging	Het
Sptb	T	C	12: 76,648,826 (GRCm39)	E1869G	possibly damaging	Het
Susd2	G	A	10: 75,475,485 (GRCm39)	T473I	probably benign	Het
Synpo	C	T	18: 60,735,483 (GRCm39)	R821H	probably damaging	Het
Tdrd9	G	A	12: 112,012,627 (GRCm39)	V1184I	probably benign	Het
Tle1	T	G	4: 72,040,670 (GRCm39)	K630Q	possibly damaging	Het
Traf3	A	T	12: 111,228,426 (GRCm39)	T546S	probably benign	Het
Ttc17	G	A	2: 94,202,108 (GRCm39)	T398M	probably damaging	Het
Ttn	G	C	2: 76,698,692 (GRCm39)	N136K		Het
Ttn	T	C	2: 76,747,111 (GRCm39)	E4646G	probably benign	Het
Xbp1	T	C	11: 5,474,266 (GRCm39)	S156P	probably damaging	Het
Yipf7	C	T	5: 69,674,387 (GRCm39)	V253I	probably benign	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
R7829:Naglu	UTSW	11	100,967,436 (GRCm39)	missense	probably damaging	0.99
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'- CGTGATTCTGGGGTTCCTACTC -3'
(R):5'- ACTTAGGTGTGCTGGTCCTCAC -3'

Sequencing Primer
(F):5'- GTTCCTACTCCTGGCTGGG -3'
(R):5'- TCTGGGACCCACAGCATC -3'

Posted On

2020-10-20