Incidental Mutation 'IGL03135:Naga'
ID 410481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naga
Ensembl Gene ENSMUSG00000022453
Gene Name N-acetyl galactosaminidase, alpha
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03135
Quality Score
Status
Chromosome 15
Chromosomal Location 82213746-82222983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82214942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 339 (V339F)
Ref Sequence ENSEMBL: ENSMUSP00000023088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023088] [ENSMUST00000229294] [ENSMUST00000229388] [ENSMUST00000229733] [ENSMUST00000229948] [ENSMUST00000230380]
AlphaFold Q9QWR8
Predicted Effect probably damaging
Transcript: ENSMUST00000023088
AA Change: V339F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: V339F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Melibiase_2 25 394 2.1e-171 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229294
Predicted Effect probably benign
Transcript: ENSMUST00000229388
Predicted Effect probably benign
Transcript: ENSMUST00000229733
Predicted Effect probably benign
Transcript: ENSMUST00000229948
Predicted Effect probably benign
Transcript: ENSMUST00000230139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230664
Predicted Effect probably benign
Transcript: ENSMUST00000230380
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,429,035 (GRCm39) M196R possibly damaging Het
Arhgap27 T A 11: 103,229,891 (GRCm39) probably null Het
Arl8b A C 6: 108,795,506 (GRCm39) N148T probably benign Het
Baz1a A G 12: 54,976,375 (GRCm39) F434L probably damaging Het
Birc2 A G 9: 7,849,722 (GRCm39) probably benign Het
Brwd1 C A 16: 95,822,458 (GRCm39) R1249I probably damaging Het
Cab39l T C 14: 59,757,100 (GRCm39) F161L probably benign Het
Ccr8 A T 9: 119,923,689 (GRCm39) D268V possibly damaging Het
Col25a1 A T 3: 130,323,332 (GRCm39) probably benign Het
Cpn1 A G 19: 43,974,693 (GRCm39) L12P possibly damaging Het
Dnah6 A G 6: 73,121,987 (GRCm39) I1360T probably benign Het
Dnajb8 A G 6: 88,200,013 (GRCm39) E183G probably damaging Het
Dpp8 T A 9: 64,960,322 (GRCm39) probably null Het
Fsd1 C A 17: 56,297,416 (GRCm39) probably null Het
Grina T A 15: 76,132,162 (GRCm39) F28I possibly damaging Het
H2-M3 G A 17: 37,583,324 (GRCm39) D262N possibly damaging Het
Hdgfl3 G A 7: 81,543,587 (GRCm39) T188M probably damaging Het
Kif18b A G 11: 102,805,086 (GRCm39) I353T probably damaging Het
Lrrc41 C A 4: 115,945,728 (GRCm39) R148S probably benign Het
Lrrc8e T A 8: 4,285,776 (GRCm39) L667Q probably damaging Het
Lrrk1 A G 7: 65,912,638 (GRCm39) F1641L probably benign Het
Naaladl1 A T 19: 6,162,386 (GRCm39) T443S probably benign Het
Nedd4l A G 18: 65,338,741 (GRCm39) K702E probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Parp14 A G 16: 35,678,381 (GRCm39) M529T probably damaging Het
Parp8 A G 13: 117,047,478 (GRCm39) V198A probably benign Het
Pcdhb19 A T 18: 37,631,588 (GRCm39) H461L probably benign Het
Ppp6r1 T C 7: 4,645,159 (GRCm39) D236G possibly damaging Het
Psg21 T C 7: 18,388,843 (GRCm39) D83G probably benign Het
Ptpru A G 4: 131,546,111 (GRCm39) C308R probably damaging Het
Ralgds T A 2: 28,439,100 (GRCm39) S696T probably damaging Het
Rttn T A 18: 89,033,274 (GRCm39) L695Q probably damaging Het
Scel A T 14: 103,823,950 (GRCm39) I393F probably benign Het
Serpina3j T A 12: 104,281,166 (GRCm39) I113N probably damaging Het
Slc4a3 C A 1: 75,524,579 (GRCm39) probably benign Het
Slc6a11 A T 6: 114,171,570 (GRCm39) probably null Het
Slc8a3 C T 12: 81,249,023 (GRCm39) V802M probably damaging Het
Smarcal1 T A 1: 72,655,660 (GRCm39) probably null Het
Tmprss11c A G 5: 86,385,509 (GRCm39) V308A probably damaging Het
Trim10 A G 17: 37,185,113 (GRCm39) R279G possibly damaging Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Trio T C 15: 27,832,097 (GRCm39) probably benign Het
Urgcp G A 11: 5,666,091 (GRCm39) T749I possibly damaging Het
Vmn2r60 A G 7: 41,786,018 (GRCm39) I274V probably benign Het
Vps11 A G 9: 44,267,653 (GRCm39) F40L probably benign Het
Ywhab A G 2: 163,857,195 (GRCm39) I157V probably benign Het
Zfp638 G A 6: 83,919,857 (GRCm39) R485H probably damaging Het
Zfp944 A G 17: 22,558,737 (GRCm39) I170T probably benign Het
Other mutations in Naga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Naga APN 15 82,214,861 (GRCm39) missense possibly damaging 0.50
IGL01515:Naga APN 15 82,214,360 (GRCm39) missense probably benign 0.06
IGL02556:Naga APN 15 82,214,337 (GRCm39) missense probably damaging 1.00
IGL02934:Naga APN 15 82,214,401 (GRCm39) missense possibly damaging 0.46
IGL03308:Naga APN 15 82,220,088 (GRCm39) missense probably damaging 1.00
Gui_lin UTSW 15 82,221,095 (GRCm39) nonsense probably null
R0485:Naga UTSW 15 82,220,956 (GRCm39) splice site probably benign
R1179:Naga UTSW 15 82,214,357 (GRCm39) missense probably benign 0.31
R1466:Naga UTSW 15 82,218,989 (GRCm39) missense probably null 0.86
R1466:Naga UTSW 15 82,218,989 (GRCm39) missense probably null 0.86
R1584:Naga UTSW 15 82,218,989 (GRCm39) missense probably null 0.86
R1802:Naga UTSW 15 82,221,669 (GRCm39) missense probably benign 0.39
R2520:Naga UTSW 15 82,214,295 (GRCm39) missense probably benign 0.00
R4306:Naga UTSW 15 82,221,095 (GRCm39) nonsense probably null
R4493:Naga UTSW 15 82,216,715 (GRCm39) missense probably damaging 1.00
R5117:Naga UTSW 15 82,221,657 (GRCm39) missense probably damaging 1.00
R5738:Naga UTSW 15 82,219,054 (GRCm39) nonsense probably null
R6080:Naga UTSW 15 82,219,048 (GRCm39) missense probably benign 0.02
R6290:Naga UTSW 15 82,219,057 (GRCm39) missense possibly damaging 0.94
R6320:Naga UTSW 15 82,216,404 (GRCm39) splice site probably null
R6658:Naga UTSW 15 82,214,975 (GRCm39) missense probably benign 0.02
R7597:Naga UTSW 15 82,219,035 (GRCm39) missense probably benign 0.06
R7727:Naga UTSW 15 82,214,348 (GRCm39) missense probably benign 0.01
R9320:Naga UTSW 15 82,221,084 (GRCm39) missense probably damaging 1.00
Z1177:Naga UTSW 15 82,221,015 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02