Incidental Mutation 'R7141:Naglu'
ID 553356
Institutional Source Beutler Lab
Gene Symbol Naglu
Ensembl Gene ENSMUSG00000001751
Gene Name alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)
Synonyms
MMRRC Submission 045221-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7141 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100960859-100968498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100963056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 229 (D229A)
Ref Sequence ENSEMBL: ENSMUSP00000001802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001802]
AlphaFold O88325
Predicted Effect probably benign
Transcript: ENSMUST00000001802
AA Change: D229A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751
AA Change: D229A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1398 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A C 1: 74,323,270 (GRCm39) probably null Het
Abhd10 C T 16: 45,563,169 (GRCm39) R29Q probably benign Het
Adgrv1 A G 13: 81,640,620 (GRCm39) Y3369H probably benign Het
Agl A G 3: 116,546,935 (GRCm39) I1305T probably benign Het
Apba3 A G 10: 81,108,889 (GRCm39) I551V probably damaging Het
Appbp2 A T 11: 85,082,577 (GRCm39) Y551* probably null Het
Btbd17 T C 11: 114,682,641 (GRCm39) N357S possibly damaging Het
Casp2 T C 6: 42,257,329 (GRCm39) F426S possibly damaging Het
Cdh5 A G 8: 104,839,633 (GRCm39) N35D probably benign Het
Cep350 G T 1: 155,790,494 (GRCm39) Q1354K probably damaging Het
Cep44 A G 8: 56,992,886 (GRCm39) C243R probably damaging Het
Chst4 A T 8: 110,757,471 (GRCm39) S131T probably damaging Het
Cox15 T C 19: 43,725,186 (GRCm39) N406D probably benign Het
Cttnbp2 C T 6: 18,380,467 (GRCm39) R1467H probably benign Het
Dock8 A G 19: 25,158,984 (GRCm39) D1714G probably null Het
Erbb2 G T 11: 98,318,135 (GRCm39) R457L probably damaging Het
Esyt3 T C 9: 99,203,493 (GRCm39) N463S probably benign Het
Fam171a1 C T 2: 3,226,189 (GRCm39) Q441* probably null Het
Fam186b T A 15: 99,181,773 (GRCm39) M142L probably benign Het
Git2 G T 5: 114,907,759 (GRCm39) C35* probably null Het
Gm21103 T G 14: 17,482,795 (GRCm39) Q202P probably damaging Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Hmcn2 C A 2: 31,250,908 (GRCm39) T790K probably benign Het
Hspg2 T A 4: 137,279,427 (GRCm39) L3114H probably damaging Het
Igkv3-10 A T 6: 70,549,965 (GRCm39) Q37L possibly damaging Het
Kcp G T 6: 29,487,511 (GRCm39) Y1106* probably null Het
Khsrp T C 17: 57,332,602 (GRCm39) D226G possibly damaging Het
Klre1 T A 6: 129,560,129 (GRCm39) W134R probably damaging Het
Lrrc66 A G 5: 73,787,320 (GRCm39) I10T probably benign Het
Map4 T C 9: 109,807,938 (GRCm39) M1T probably null Het
Met T A 6: 17,527,154 (GRCm39) I535K probably benign Het
Mmut T C 17: 41,263,730 (GRCm39) V500A possibly damaging Het
Mrgprb1 A G 7: 48,097,435 (GRCm39) V159A possibly damaging Het
Mrpl41 A G 2: 24,864,468 (GRCm39) L68P probably damaging Het
Mtmr4 T C 11: 87,491,439 (GRCm39) W135R probably damaging Het
Myh10 A G 11: 68,692,965 (GRCm39) D1420G probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Ncln G T 10: 81,323,683 (GRCm39) Y517* probably null Het
Nr1h4 G A 10: 89,334,091 (GRCm39) R100* probably null Het
Or5k1 G A 16: 58,617,771 (GRCm39) T146M probably benign Het
P2rx5 A T 11: 73,051,474 (GRCm39) T18S probably damaging Het
Pclo T C 5: 14,729,271 (GRCm39) S2710P unknown Het
Pdhx A T 2: 102,903,659 (GRCm39) F46I probably benign Het
Piezo2 A T 18: 63,278,181 (GRCm39) L241* probably null Het
Pitpnm1 G A 19: 4,152,787 (GRCm39) V65M probably damaging Het
Rgs3 A G 4: 62,608,724 (GRCm39) D330G probably damaging Het
Scaf8 T C 17: 3,209,457 (GRCm39) V60A unknown Het
Sema4c A G 1: 36,592,101 (GRCm39) Y249H probably damaging Het
Spp2 T C 1: 88,335,050 (GRCm39) Y27H probably damaging Het
Sugct T A 13: 17,819,372 (GRCm39) I158F possibly damaging Het
Sympk A T 7: 18,788,017 (GRCm39) I1178F probably benign Het
Tmppe T C 9: 114,234,036 (GRCm39) Y112H probably benign Het
Trp53bp2 A G 1: 182,276,073 (GRCm39) T187A Het
Tspoap1 A G 11: 87,665,523 (GRCm39) S754G probably damaging Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Vmn2r70 G C 7: 85,208,044 (GRCm39) S811C probably benign Het
Zfp638 T C 6: 83,844,181 (GRCm39) S15P unknown Het
Zfp763 A G 17: 33,237,769 (GRCm39) S459P probably damaging Het
Other mutations in Naglu
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCTCAGTCAAGTCTACCTGC -3'
(R):5'- CAGAGTCATCCAGCAATCTGC -3'

Sequencing Primer
(F):5'- CCTGCAGGTAAAGAGTGGC -3'
(R):5'- TCTGCAGTGGCTGACAGC -3'
Posted On 2019-05-15