Mutagenetix > Incidental Mutation

Incidental Mutation 'R2092:Naglu'

231859

Institutional Source

Beutler Lab

Gene Symbol

Naglu

Ensembl Gene

ENSMUSG00000001751

Gene Name

alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)

Synonyms

MMRRC Submission

040097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100960859-100968498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100967546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 499 (V499I)

Ref Sequence

ENSEMBL: ENSMUSP00000001802 (fasta)

Gene Model

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

AlphaFold

O88325

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001802
AA Change: V499I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751
AA Change: V499I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140735

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,651,896 (GRCm39)	C1321*	probably null	Het
Abca8b	A	G	11: 109,857,534 (GRCm39)	F673L	possibly damaging	Het
Adam19	T	G	11: 45,951,731 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,024,041 (GRCm39)	T313A	possibly damaging	Het
Akap13	A	T	7: 75,260,318 (GRCm39)	I178F	probably benign	Het
Alb	G	GA	5: 90,611,842 (GRCm39)		probably null	Het
Bod1l	A	G	5: 41,988,860 (GRCm39)	S416P	probably damaging	Het
Casr	A	T	16: 36,330,405 (GRCm39)	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,131,737 (GRCm39)	N152S	probably benign	Het
Chrdl2	T	A	7: 99,670,184 (GRCm39)	C102*	probably null	Het
Col4a4	G	A	1: 82,476,667 (GRCm39)	S554L	unknown	Het
Col6a4	T	C	9: 105,937,530 (GRCm39)	K1392R	probably damaging	Het
Dab1	T	G	4: 104,535,974 (GRCm39)	Y128D	probably damaging	Het
Dars1	A	T	1: 128,301,755 (GRCm39)	M293K	probably damaging	Het
Dlec1	T	C	9: 118,950,912 (GRCm39)	F493L	possibly damaging	Het
Dmbt1	G	T	7: 130,651,748 (GRCm39)	W330L	probably damaging	Het
Dnah11	A	T	12: 117,976,451 (GRCm39)	M831K	possibly damaging	Het
Dock7	T	C	4: 98,897,545 (GRCm39)	N715S	possibly damaging	Het
Edc4	T	A	8: 106,614,160 (GRCm39)	L12Q	probably damaging	Het
Edem2	T	C	2: 155,550,969 (GRCm39)	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fto	C	A	8: 92,136,315 (GRCm39)	Y194*	probably null	Het
Gnptab	T	G	10: 88,276,167 (GRCm39)	Y1151*	probably null	Het
Grm1	A	G	10: 10,564,969 (GRCm39)	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,275,614 (GRCm39)	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,549,427 (GRCm39)	D70G	probably damaging	Het
Irx4	C	A	13: 73,413,605 (GRCm39)	T25K	probably damaging	Het
Kif22	C	T	7: 126,632,802 (GRCm39)	D195N	probably damaging	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Lyz1	C	T	10: 117,124,504 (GRCm39)	R144Q	probably benign	Het
Macf1	T	A	4: 123,276,971 (GRCm39)	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myh9	G	A	15: 77,648,550 (GRCm39)	Q80*	probably null	Het
Myo6	G	T	9: 80,152,964 (GRCm39)	R199L	probably damaging	Het
Nfkbie	T	C	17: 45,869,465 (GRCm39)	F140S	probably benign	Het
Or4p8	A	G	2: 88,727,611 (GRCm39)	F110S	probably damaging	Het
Or52ab7	G	A	7: 102,978,316 (GRCm39)	V208M	probably damaging	Het
Or52z1	A	T	7: 103,437,279 (GRCm39)	F68L	possibly damaging	Het
Or5b102	T	A	19: 13,041,166 (GRCm39)	Y130*	probably null	Het
Or5p81	CAAATA	CA	7: 108,266,869 (GRCm39)		probably null	Het
Or8g21	A	T	9: 38,906,485 (GRCm39)	L82Q	probably damaging	Het
Otop1	A	T	5: 38,457,110 (GRCm39)	I290F	probably damaging	Het
P2rx2	C	T	5: 110,489,007 (GRCm39)	D203N	probably damaging	Het
Pcdhb10	T	A	18: 37,547,240 (GRCm39)	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,729,616 (GRCm39)	H423R	probably benign	Het
Ptk2	A	T	15: 73,108,040 (GRCm39)	Y56*	probably null	Het
Rapgef3	T	C	15: 97,658,604 (GRCm39)	D134G	probably damaging	Het
Scaf11	A	C	15: 96,313,708 (GRCm39)	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,363,720 (GRCm39)	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,858,002 (GRCm39)	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,870,950 (GRCm39)	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,704,610 (GRCm39)	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,948,614 (GRCm39)	D555E	probably benign	Het
Smc5	T	C	19: 23,216,263 (GRCm39)	I446V	probably benign	Het
St6gal2	T	C	17: 55,817,267 (GRCm39)	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,000,141 (GRCm39)	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,121,340 (GRCm39)	L187P	probably damaging	Het
Tg	A	G	15: 66,721,456 (GRCm39)	I322V	probably null	Het
Thap12	T	C	7: 98,365,656 (GRCm39)	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,299,949 (GRCm39)	S22P	probably damaging	Het
Ttc3	C	T	16: 94,243,691 (GRCm39)	P1232S	probably benign	Het
Upk3a	A	G	15: 84,902,286 (GRCm39)	T38A	probably damaging	Het
Utrn	A	T	10: 12,554,442 (GRCm39)	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,534,578 (GRCm39)	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,538,885 (GRCm39)	T35A	possibly damaging	Het
Xkr7	C	T	2: 152,895,983 (GRCm39)	S279L	probably damaging	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp641	G	T	15: 98,191,593 (GRCm39)	T31N	probably benign	Het
Zfp74	G	A	7: 29,653,349 (GRCm39)		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
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
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'- TGGTGTATGCTCCACAACTTTG -3'
(R):5'- ACATCCAGCAGGTCATAGCG -3'

Sequencing Primer
(F):5'- CAACCATGGCCTGTTTGGAG -3'
(R):5'- CCAGCAGGTCATAGCGGAAGG -3'

Posted On

2014-09-18