Incidental Mutation 'R4493:Naga'
ID330844
Institutional Source Beutler Lab
Gene Symbol Naga
Ensembl Gene ENSMUSG00000022453
Gene NameN-acetyl galactosaminidase, alpha
Synonyms
MMRRC Submission 041748-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4493 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location82329532-82338925 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82332514 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 259 (F259S)
Ref Sequence ENSEMBL: ENSMUSP00000023088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023088] [ENSMUST00000229294] [ENSMUST00000229388] [ENSMUST00000229733] [ENSMUST00000229948] [ENSMUST00000230269] [ENSMUST00000230380]
Predicted Effect probably damaging
Transcript: ENSMUST00000023088
AA Change: F259S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: F259S

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: ENSMUST00000230269
Predicted Effect probably benign
Transcript: ENSMUST00000230380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230664
Meta Mutation Damage Score 0.486 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 94% (45/48)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1b T C 2: 24,652,938 T1301A probably damaging Het
Ccdc141 A G 2: 77,132,297 V101A probably damaging Het
Ccdc146 T C 5: 21,303,193 E619G possibly damaging Het
Cmya5 T C 13: 93,094,065 E1505G probably benign Het
Cngb3 C A 4: 19,367,778 P229Q probably damaging Het
Ctnna2 A G 6: 76,981,848 V461A probably damaging Het
D430041D05Rik T C 2: 104,256,339 D764G probably benign Het
Dgki T C 6: 36,974,861 probably benign Het
Dhx36 A T 3: 62,488,504 probably benign Het
Gcn1l1 T C 5: 115,594,144 I1006T probably benign Het
Glt8d2 T A 10: 82,664,713 M20L possibly damaging Het
Greb1 C A 12: 16,698,610 G1122V probably benign Het
Hmcn1 A T 1: 150,701,899 I2037N probably damaging Het
Hspa4l A G 3: 40,768,002 I340V possibly damaging Het
Itpr3 A G 17: 27,104,612 K1204E probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 probably benign Het
Lyst G A 13: 13,635,383 R546H probably damaging Het
Maats1 T C 16: 38,341,768 T4A probably benign Het
Mcph1 T A 8: 18,631,736 C296* probably null Het
Mrc2 G A 11: 105,348,431 probably null Het
Nes A G 3: 87,976,813 E793G probably damaging Het
Nfkb2 A G 19: 46,308,439 D316G probably damaging Het
Pcdha4 A T 18: 36,954,591 Y609F possibly damaging Het
Pgam1 C T 19: 41,915,776 A104V possibly damaging Het
Piezo2 T C 18: 63,114,063 I525V probably damaging Het
Pold1 A G 7: 44,537,708 V683A probably damaging Het
Poteg T C 8: 27,480,097 V316A possibly damaging Het
Ppih A T 4: 119,310,845 N156K probably damaging Het
Prep T C 10: 45,120,819 F398L probably benign Het
Prlhr A T 19: 60,467,081 M349K probably benign Het
Rtp4 A T 16: 23,610,077 H30L probably benign Het
Stkld1 A G 2: 26,946,626 N268S probably benign Het
Syt6 A G 3: 103,585,630 E66G probably damaging Het
Tas2r129 A G 6: 132,951,354 I85V probably benign Het
Tma16 C T 8: 66,484,171 probably null Het
Tprn T C 2: 25,268,892 S643P probably damaging Het
Trrap T C 5: 144,831,048 V2605A probably benign Het
Vmn1r230 T A 17: 20,846,601 N17K probably benign Het
Xkrx T C X: 134,150,996 N302S possibly damaging Het
Zfp946 T A 17: 22,451,086 probably null 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
IGL02556:Naga APN 15 82330136 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTCCCAGTACCTTTAAGATCCTGC -3'
(R):5'- TCATCACCTGAGTCAGCCAC -3'

Sequencing Primer
(F):5'- TAAGATCCTGCGTCCCTGG -3'
(R):5'- AGGAAGGCCCATCACCCTG -3'
Posted On2015-07-21