Incidental Mutation 'IGL02556:Naga'
ID298524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naga
Ensembl Gene ENSMUSG00000022453
Gene NameN-acetyl galactosaminidase, alpha
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02556
Quality Score
Status
Chromosome15
Chromosomal Location82329532-82338925 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82330136 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 391 (N391K)
Ref Sequence ENSEMBL: ENSMUSP00000023088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023088] [ENSMUST00000229294] [ENSMUST00000229388] [ENSMUST00000229733] [ENSMUST00000229948] [ENSMUST00000230380]
Predicted Effect probably damaging
Transcript: ENSMUST00000023088
AA Change: N391K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: N391K

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 probably benign
Transcript: ENSMUST00000230380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230664
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T G 10: 100,610,717 probably null Het
Ace A G 11: 105,972,527 D376G probably damaging Het
Adgrb1 C T 15: 74,586,805 T1252I probably damaging Het
Bhmt T C 13: 93,637,500 probably benign Het
Ckap5 T C 2: 91,594,841 probably benign Het
Clcn4 T C 7: 7,296,066 T37A probably benign Het
Cnmd C T 14: 79,661,960 V18I probably benign Het
Cryl1 C T 14: 57,276,021 V248M probably benign Het
D830039M14Rik C T 10: 61,475,483 probably benign Het
Dido1 T C 2: 180,689,335 T107A possibly damaging Het
Efna5 C A 17: 62,651,028 V78F probably damaging Het
Eml1 A G 12: 108,537,366 I741V probably benign Het
Gfap A G 11: 102,896,954 L55P probably damaging Het
Gm884 A G 11: 103,613,283 S2620P probably benign Het
Itga6 A G 2: 71,838,683 I606V probably benign Het
Kif2c G T 4: 117,162,605 D579E probably damaging Het
Lef1 T C 3: 131,194,793 probably null Het
Lrrc1 T A 9: 77,435,122 I357L probably benign Het
Map3k20 T A 2: 72,371,895 F157I probably damaging Het
Ncaph T C 2: 127,126,105 probably benign Het
Olfr103 T A 17: 37,336,996 M79L probably benign Het
Olfr290 T G 7: 84,916,359 Y193* probably null Het
Olfr6 T A 7: 106,956,391 I182F possibly damaging Het
Olfr744 C A 14: 50,618,728 Q169K probably benign Het
Olfr769 T G 10: 129,112,035 Y130S probably damaging Het
Olfr972 T A 9: 39,873,610 C112S possibly damaging Het
Pappa C A 4: 65,156,626 D472E possibly damaging Het
Pdxk G A 10: 78,451,485 L81F probably damaging Het
Pkhd1 G T 1: 20,310,710 T2635K probably damaging Het
Psmb6 A T 11: 70,526,422 H99L possibly damaging Het
Ptpn6 C T 6: 124,728,660 G135E probably benign Het
Ptprz1 T A 6: 22,972,845 D251E probably benign Het
Ralgapa1 A G 12: 55,642,449 V1955A possibly damaging Het
Rsph4a T C 10: 33,905,152 probably benign Het
Sh2d4b T C 14: 40,820,743 T359A probably benign Het
Sh3bp5l A G 11: 58,346,261 D348G probably damaging Het
Skint5 A T 4: 113,940,735 M217K probably damaging Het
Slc30a6 T C 17: 74,404,059 L49P probably damaging Het
Slc8a1 C T 17: 81,648,744 M288I probably benign Het
Tmem127 C A 2: 127,256,002 probably null Het
Tnfrsf17 T C 16: 11,313,947 probably benign Het
Trak1 A T 9: 121,448,901 N341I probably damaging Het
Ubr5 A G 15: 38,002,448 I1453T probably benign Het
Wdr62 T C 7: 30,245,284 probably null Het
Xrn2 T C 2: 147,038,296 probably benign Het
Zscan10 C T 17: 23,608,145 A144V possibly damaging Het
Other mutations in Naga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Naga APN 15 82330660 missense possibly damaging 0.50
IGL01515:Naga APN 15 82330159 missense probably benign 0.06
IGL02934:Naga APN 15 82330200 missense possibly damaging 0.46
IGL03135:Naga APN 15 82330741 missense probably damaging 1.00
IGL03308:Naga APN 15 82335887 missense probably damaging 1.00
Gui_lin UTSW 15 82336894 nonsense probably null
R0485:Naga UTSW 15 82336755 splice site probably benign
R1179:Naga UTSW 15 82330156 missense probably benign 0.31
R1466:Naga UTSW 15 82334788 missense probably null 0.86
R1466:Naga UTSW 15 82334788 missense probably null 0.86
R1584:Naga UTSW 15 82334788 missense probably null 0.86
R1802:Naga UTSW 15 82337468 missense probably benign 0.39
R2520:Naga UTSW 15 82330094 missense probably benign 0.00
R4306:Naga UTSW 15 82336894 nonsense probably null
R4493:Naga UTSW 15 82332514 missense probably damaging 1.00
R5117:Naga UTSW 15 82337456 missense probably damaging 1.00
R5738:Naga UTSW 15 82334853 nonsense probably null
R6080:Naga UTSW 15 82334847 missense probably benign 0.02
R6290:Naga UTSW 15 82334856 missense possibly damaging 0.94
R6320:Naga UTSW 15 82332203 unclassified probably null
R6658:Naga UTSW 15 82330774 missense probably benign 0.02
R7597:Naga UTSW 15 82334834 missense probably benign 0.06
R7727:Naga UTSW 15 82330147 missense probably benign 0.01
Z1177:Naga UTSW 15 82336814 missense not run
Posted On2015-04-16