Mutagenetix > Incidental Mutation

Incidental Mutation 'R0044:Naglu'

32896

Institutional Source

Beutler Lab

Gene Symbol

Naglu

Ensembl Gene

ENSMUSG00000001751

Gene Name

alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)

Synonyms

MMRRC Submission

038338-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0044 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

100960859-100968498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100962043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 172 (I172T)

Ref Sequence

ENSEMBL: ENSMUSP00000001802 (fasta)

Gene Model

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

AlphaFold

O88325

Predicted Effect

probably damaging
Transcript: ENSMUST00000001802
AA Change: I172T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751
AA Change: I172T

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

noncoding transcript
Transcript: ENSMUST00000138409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140735

Meta Mutation Damage Score

0.9204

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

100% (77/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430571L13Rik	A	C	9: 107,219,698 (GRCm39)	R50S	probably damaging	Het
Actn2	G	T	13: 12,290,013 (GRCm39)	T176N	possibly damaging	Het
Adamts7	T	C	9: 90,053,641 (GRCm39)	V62A	possibly damaging	Het
Adcy2	A	G	13: 68,876,018 (GRCm39)	S495P	possibly damaging	Het
Agbl3	A	T	6: 34,776,834 (GRCm39)	M447L	probably damaging	Het
Asxl1	C	T	2: 153,242,129 (GRCm39)	T893I	probably benign	Het
Atp11b	T	A	3: 35,866,401 (GRCm39)	I400N	probably damaging	Het
Bpifb2	C	T	2: 153,724,599 (GRCm39)		probably benign	Het
Capn1	T	A	19: 6,064,373 (GRCm39)	Y42F	probably benign	Het
Cdk5rap2	A	T	4: 70,279,138 (GRCm39)	L190H	probably damaging	Het
Cfap54	T	C	10: 92,871,295 (GRCm39)	I594V	probably null	Het
Cpsf1	A	G	15: 76,483,753 (GRCm39)	V830A	probably benign	Het
Cyp2c70	T	A	19: 40,153,815 (GRCm39)	N258I	possibly damaging	Het
Dctn1	T	G	6: 83,168,116 (GRCm39)	Y386D	probably damaging	Het
Degs2	T	C	12: 108,658,413 (GRCm39)	N189D	probably damaging	Het
Dido1	C	T	2: 180,303,612 (GRCm39)	A1431T	probably damaging	Het
Diras1	G	T	10: 80,857,972 (GRCm39)	S93*	probably null	Het
E130308A19Rik	T	A	4: 59,690,290 (GRCm39)	H41Q	possibly damaging	Het
Ebf2	C	T	14: 67,548,417 (GRCm39)		probably benign	Het
Fcho2	A	G	13: 98,892,052 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,358,020 (GRCm39)	Y681*	probably null	Het
Gm10036	A	C	18: 15,965,873 (GRCm39)	K8T	probably benign	Het
Herc1	T	A	9: 66,355,457 (GRCm39)	M2236K	probably benign	Het
Hmcn2	A	T	2: 31,302,520 (GRCm39)	Y2948F	probably damaging	Het
Jakmip2	A	T	18: 43,715,170 (GRCm39)	C119S	probably benign	Het
Kif1b	A	G	4: 149,348,058 (GRCm39)		probably benign	Het
Kif6	T	C	17: 50,139,284 (GRCm39)		probably benign	Het
Lpin1	A	T	12: 16,618,530 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,357,899 (GRCm39)	I377V	probably benign	Het
Mavs	C	A	2: 131,083,944 (GRCm39)	T147N	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mreg	T	G	1: 72,201,534 (GRCm39)	T153P	probably damaging	Het
Odad4	A	T	11: 100,457,827 (GRCm39)	I477F	probably damaging	Het
Ogdhl	T	C	14: 32,061,285 (GRCm39)	V492A	possibly damaging	Het
Or4a72	A	G	2: 89,405,974 (GRCm39)	I32T	possibly damaging	Het
Parvg	A	G	15: 84,222,083 (GRCm39)	E323G	probably benign	Het
Pgap1	A	G	1: 54,532,527 (GRCm39)	L664S	probably damaging	Het
Pgm2l1	A	G	7: 99,899,539 (GRCm39)	N51S	probably benign	Het
Pik3r6	A	G	11: 68,435,576 (GRCm39)	T609A	probably benign	Het
Plcb4	T	A	2: 135,813,776 (GRCm39)	V705E	probably damaging	Het
Plppr5	T	A	3: 117,465,538 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,120,989 (GRCm39)	D411Y	probably damaging	Het
Ptprd	A	G	4: 76,004,566 (GRCm39)	V63A	probably benign	Het
Ptprz1	T	A	6: 23,007,402 (GRCm39)	I1655N	probably damaging	Het
Raf1	T	A	6: 115,600,476 (GRCm39)	D10V	probably benign	Het
Rexo1	T	A	10: 80,380,212 (GRCm39)	Q928L	probably benign	Het
Rpl7l1	A	C	17: 47,089,456 (GRCm39)		probably null	Het
Rrm2b	A	G	15: 37,953,932 (GRCm39)	S39P	possibly damaging	Het
Scn5a	A	G	9: 119,321,113 (GRCm39)		probably null	Het
Sgtb	A	G	13: 104,265,768 (GRCm39)	T93A	probably benign	Het
Sigirr	G	T	7: 140,672,226 (GRCm39)		probably null	Het
Slc16a7	T	C	10: 125,063,951 (GRCm39)	D462G	probably benign	Het
Slc25a30	C	T	14: 76,007,089 (GRCm39)	A85T	probably benign	Het
Spata24	A	G	18: 35,789,887 (GRCm39)	S167P	probably damaging	Het
Spock3	C	T	8: 63,597,041 (GRCm39)	T115I	possibly damaging	Het
Srgap2	A	G	1: 131,247,289 (GRCm39)	I581T	possibly damaging	Het
Syn2	A	T	6: 115,112,108 (GRCm39)	M23L	unknown	Het
Synrg	G	A	11: 83,900,007 (GRCm39)	V839I	probably damaging	Het
Tmtc1	A	G	6: 148,314,327 (GRCm39)		probably benign	Het
Tnfaip3	C	A	10: 18,887,374 (GRCm39)	M50I	probably damaging	Het
Topbp1	T	A	9: 103,202,972 (GRCm39)	I721N	possibly damaging	Het
Ttc22	T	G	4: 106,494,003 (GRCm39)	V321G	probably benign	Het
Ubr2	A	G	17: 47,303,911 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,164,369 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,269,281 (GRCm39)		probably benign	Het
Vmn2r100	A	T	17: 19,742,441 (GRCm39)	I272L	possibly damaging	Het
Vrtn	T	A	12: 84,695,379 (GRCm39)	L43H	probably damaging	Het
Wnk1	G	T	6: 120,014,110 (GRCm39)	R162S	probably damaging	Het
Xkr9	G	A	1: 13,754,286 (GRCm39)	W93*	probably null	Het
Zfp804b	G	T	5: 6,819,655 (GRCm39)	P1136H	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
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
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'- CCCATATGTCCCCAATAATGTGCCC -3'
(R):5'- CCAGGAAACAGCTCCATGTCTGTG -3'

Sequencing Primer
(F):5'- AATAATGTGCCCCTACCCG -3'
(R):5'- agaagcagcctccattgac -3'

Posted On

2013-05-09