Mutagenetix > Incidental Mutation

Incidental Mutation 'R5387:Naglu'

425351

Institutional Source

Beutler Lab

Gene Symbol

Naglu

Ensembl Gene

ENSMUSG00000001751

Gene Name

alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)

Synonyms

MMRRC Submission

042959-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101070012-101077672 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101076724 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 500 (Y500F)

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: Y500F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751
AA Change: Y500F

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

Meta Mutation Damage Score

0.9329

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,974 (GRCm38)	D32E	probably benign	Het
2210408I21Rik	T	A	13: 77,259,973 (GRCm38)	S140T	probably benign	Het
Ahnak	T	C	19: 9,003,691 (GRCm38)	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,634,644 (GRCm38)	H1205N	probably damaging	Het
Ano1	T	C	7: 144,648,619 (GRCm38)	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573 (GRCm38)	C114W	probably damaging	Het
Ascl1	C	T	10: 87,492,689 (GRCm38)	A134T	probably damaging	Het
Atl2	C	T	17: 79,852,800 (GRCm38)	E453K	probably benign	Het
Aup1	C	T	6: 83,055,024 (GRCm38)	A84V	probably damaging	Het
Btbd7	A	T	12: 102,837,785 (GRCm38)	M332K	probably damaging	Het
Cacna1d	A	G	14: 30,100,751 (GRCm38)	V1107A	probably damaging	Het
Cd33	G	A	7: 43,532,053 (GRCm38)	Q114*	probably null	Het
Col4a4	C	T	1: 82,493,591 (GRCm38)	G681E	unknown	Het
Defb22	C	A	2: 152,485,906 (GRCm38)	A120S	unknown	Het
Dnah7b	A	G	1: 46,188,659 (GRCm38)	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,134,842 (GRCm38)	I549T	possibly damaging	Het
Esp15	T	A	17: 39,644,577 (GRCm38)		probably null	Het
Fbxo7	A	G	10: 86,024,654 (GRCm38)	T42A	probably benign	Het
Filip1	A	G	9: 79,818,274 (GRCm38)	I1021T	probably benign	Het
Gad1	C	A	2: 70,563,851 (GRCm38)	S7*	probably null	Het
Gm281	C	A	14: 13,914,438 (GRCm38)	M1I	probably null	Het
H2-Q7	C	T	17: 35,439,542 (GRCm38)	T52M	probably damaging	Het
H2-T3	C	T	17: 36,186,702 (GRCm38)	G28R	probably benign	Het
Hist1h2ad	T	A	13: 23,574,667 (GRCm38)		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Ift81	A	G	5: 122,555,535 (GRCm38)	Y604H	probably damaging	Het
Igsf11	A	G	16: 39,022,423 (GRCm38)	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,914,876 (GRCm38)	A846S	probably benign	Het
Lnx2	G	A	5: 147,028,154 (GRCm38)	P420S	probably benign	Het
Lrit2	A	G	14: 37,072,259 (GRCm38)	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,499,671 (GRCm38)		probably null	Het
Mug1	T	C	6: 121,884,394 (GRCm38)	Y1325H	probably damaging	Het
Npy4r	A	G	14: 34,146,983 (GRCm38)	M116T	probably benign	Het
Nrd1	A	G	4: 109,039,762 (GRCm38)	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,762,813 (GRCm38)	S472P	probably benign	Het
Olfr102	T	A	17: 37,314,292 (GRCm38)	T31S	probably benign	Het
Olfr361	T	C	2: 37,085,719 (GRCm38)	T10A	possibly damaging	Het
Otogl	T	A	10: 107,780,933 (GRCm38)	T1828S	probably benign	Het
Pank2	C	T	2: 131,274,262 (GRCm38)	T200I	probably benign	Het
Pbrm1	A	G	14: 31,082,610 (GRCm38)	Y946C	probably damaging	Het
Pde12	A	T	14: 26,666,453 (GRCm38)	S437T	probably benign	Het
Pikfyve	A	G	1: 65,265,268 (GRCm38)	K1710E	possibly damaging	Het
Plcd3	A	G	11: 103,078,455 (GRCm38)	S229P	probably damaging	Het
Polr3a	T	C	14: 24,454,941 (GRCm38)	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 105,040,177 (GRCm38)	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873 (GRCm38)	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,485,434 (GRCm38)	S620P	probably damaging	Het
Rab33b	A	G	3: 51,493,455 (GRCm38)	T117A	probably damaging	Het
Rasal2	T	C	1: 157,157,765 (GRCm38)	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,956,413 (GRCm38)	T773A	possibly damaging	Het
Rrnad1	A	T	3: 87,930,011 (GRCm38)		probably benign	Het
Rspry1	A	G	8: 94,638,286 (GRCm38)	T185A	possibly damaging	Het
Sec61a2	G	T	2: 5,882,545 (GRCm38)		probably benign	Het
Setx	C	T	2: 29,147,594 (GRCm38)	R1364C	probably benign	Het
Shtn1	G	T	19: 59,038,369 (GRCm38)	L97M	probably damaging	Het
Slc35f1	T	C	10: 53,108,164 (GRCm38)	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,643,909 (GRCm38)		probably benign	Het
Slmap	T	C	14: 26,459,933 (GRCm38)	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096 (GRCm38)	A924V	probably benign	Het
Sp110	C	G	1: 85,589,118 (GRCm38)	E219D	probably damaging	Het
Tecta	G	A	9: 42,375,063 (GRCm38)	L766F	probably damaging	Het
Tle3	C	T	9: 61,407,489 (GRCm38)		probably null	Het
Top3a	A	G	11: 60,762,490 (GRCm38)	F53L	probably damaging	Het
Trem1	T	C	17: 48,241,513 (GRCm38)	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,446,963 (GRCm38)	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 90,006,596 (GRCm38)	Y975C	probably benign	Het
Ubxn11	C	A	4: 134,123,426 (GRCm38)	D196E	probably damaging	Het
Unc80	A	G	1: 66,530,021 (GRCm38)	H945R	possibly damaging	Het
Usp15	A	G	10: 123,131,286 (GRCm38)	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339 (GRCm38)	E138K	probably damaging	Het
Wapl	A	G	14: 34,677,295 (GRCm38)	E107G	probably benign	Het
Wbp1l	T	C	19: 46,644,457 (GRCm38)		probably null	Het
Zfp184	T	G	13: 21,949,640 (GRCm38)		probably benign	Het
Zfp36	A	C	7: 28,377,868 (GRCm38)	L205R	possibly damaging	Het

Other mutations in Naglu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00845:Naglu	APN	11	101,076,952 (GRCm38)	missense	possibly damaging	0.84
IGL01025:Naglu	APN	11	101,073,947 (GRCm38)	missense	probably benign	0.01
IGL01775:Naglu	APN	11	101,074,095 (GRCm38)	missense	probably damaging	1.00
ingest	UTSW	11	101,071,181 (GRCm38)	missense	probably damaging	1.00
tragar	UTSW	11	101,072,230 (GRCm38)	missense	probably benign	0.10
tulane	UTSW	11	101,070,332 (GRCm38)	missense	probably benign	0.01
R0044:Naglu	UTSW	11	101,071,217 (GRCm38)	missense	probably damaging	0.99
R0281:Naglu	UTSW	11	101,074,027 (GRCm38)	missense	probably damaging	0.99
R0395:Naglu	UTSW	11	101,074,107 (GRCm38)	unclassified	probably benign
R1624:Naglu	UTSW	11	101,076,525 (GRCm38)	missense	probably damaging	1.00
R1739:Naglu	UTSW	11	101,076,403 (GRCm38)	missense	possibly damaging	0.88
R2092:Naglu	UTSW	11	101,076,720 (GRCm38)	missense	possibly damaging	0.94
R4118:Naglu	UTSW	11	101,074,082 (GRCm38)	missense	probably benign	0.39
R4582:Naglu	UTSW	11	101,071,929 (GRCm38)	missense	probably damaging	0.97
R4792:Naglu	UTSW	11	101,071,106 (GRCm38)	missense	probably damaging	1.00
R4834:Naglu	UTSW	11	101,076,988 (GRCm38)	missense	probably benign
R5232:Naglu	UTSW	11	101,070,150 (GRCm38)	missense	probably benign	0.02
R6463:Naglu	UTSW	11	101,077,351 (GRCm38)	splice site	probably null
R6483:Naglu	UTSW	11	101,071,181 (GRCm38)	missense	probably damaging	1.00
R7141:Naglu	UTSW	11	101,072,230 (GRCm38)	missense	probably benign	0.10
R7187:Naglu	UTSW	11	101,070,332 (GRCm38)	missense	probably benign	0.01
R7232:Naglu	UTSW	11	101,076,426 (GRCm38)	missense	probably damaging	1.00
R7478:Naglu	UTSW	11	101,071,899 (GRCm38)	missense	probably damaging	1.00
R7828:Naglu	UTSW	11	101,076,610 (GRCm38)	missense	probably damaging	0.99
R7829:Naglu	UTSW	11	101,076,610 (GRCm38)	missense	probably damaging	0.99
R8512:Naglu	UTSW	11	101,070,342 (GRCm38)	missense	probably benign	0.09
R9131:Naglu	UTSW	11	101,076,905 (GRCm38)	missense	probably damaging	1.00
R9145:Naglu	UTSW	11	101,071,114 (GRCm38)	missense	probably damaging	1.00
X0023:Naglu	UTSW	11	101,072,014 (GRCm38)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AACCATGGCCTGTTTGGAG -3'
(R):5'- ACATCCAGCAGGTCATAGCG -3'

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

Posted On

2016-08-04