Incidental Mutation 'R5117:Naga'
ID 392706
Institutional Source Beutler Lab
Gene Symbol Naga
Ensembl Gene ENSMUSG00000022453
Gene Name N-acetyl galactosaminidase, alpha
Synonyms
MMRRC Submission 042705-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5117 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82213746-82222983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 82221657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 28 (M28R)
Ref Sequence ENSEMBL: ENSMUSP00000155062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023088] [ENSMUST00000050349] [ENSMUST00000160994] [ENSMUST00000161178] [ENSMUST00000229948] [ENSMUST00000230380] [ENSMUST00000229388] [ENSMUST00000230269] [ENSMUST00000229294] [ENSMUST00000229733]
AlphaFold Q9QWR8
Predicted Effect probably damaging
Transcript: ENSMUST00000023088
AA Change: M28R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: M28R

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Melibiase_2 25 394 2.1e-171 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050349
SMART Domains Protein: ENSMUSP00000060598
Gene: ENSMUSG00000049687

DomainStartEndE-ValueType
PH 18 123 1.02e-10 SMART
coiled coil region 128 150 N/A INTRINSIC
Blast:PH 192 242 1e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159942
Predicted Effect probably benign
Transcript: ENSMUST00000160994
Predicted Effect probably benign
Transcript: ENSMUST00000161178
SMART Domains Protein: ENSMUSP00000124703
Gene: ENSMUSG00000049687

DomainStartEndE-ValueType
PH 18 123 1.02e-10 SMART
coiled coil region 128 150 N/A INTRINSIC
Blast:PH 192 242 1e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162983
Predicted Effect unknown
Transcript: ENSMUST00000229948
AA Change: M28R
Predicted Effect probably damaging
Transcript: ENSMUST00000230380
AA Change: M28R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000229388
AA Change: M28R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230269
AA Change: M12R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000229294
AA Change: M12R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230664
Predicted Effect probably benign
Transcript: ENSMUST00000230139
Predicted Effect probably benign
Transcript: ENSMUST00000229733
Meta Mutation Damage Score 0.9698 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (67/67)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G A 9: 124,055,715 (GRCm39) T403I probably benign Het
4921509C19Rik T C 2: 151,314,460 (GRCm39) E406G probably benign Het
Abca8b T C 11: 109,857,629 (GRCm39) E641G probably damaging Het
Agrn T C 4: 156,270,010 (GRCm39) N49S probably benign Het
Cacna1b A G 2: 24,622,340 (GRCm39) S215P probably damaging Het
Cacna1g T A 11: 94,323,329 (GRCm39) I1292F probably damaging Het
Card14 T A 11: 119,229,076 (GRCm39) I662N probably damaging Het
Cep135 A G 5: 76,779,276 (GRCm39) K762R probably benign Het
Ces1b A G 8: 93,799,837 (GRCm39) probably null Het
Erich6 T G 3: 58,530,626 (GRCm39) I448L probably benign Het
Fads3 T G 19: 10,019,322 (GRCm39) probably null Het
Fam234a A G 17: 26,432,512 (GRCm39) F546L probably benign Het
Fbxl9 T A 8: 106,039,492 (GRCm39) R595* probably null Het
Gm10717 T C 9: 3,025,625 (GRCm39) L70S probably benign Het
Gm11787 G T 4: 3,509,524 (GRCm39) noncoding transcript Het
Gm5519 A G 19: 33,802,471 (GRCm39) *171W probably null Het
Grid2 T C 6: 63,233,917 (GRCm39) I26T probably benign Het
Hmcn2 T G 2: 31,348,061 (GRCm39) C4902W possibly damaging Het
Hsp90aa1 T C 12: 110,661,698 (GRCm39) N106S possibly damaging Het
Il18 A T 9: 50,492,809 (GRCm39) N125I possibly damaging Het
Ints9 G T 14: 65,230,540 (GRCm39) E156* probably null Het
Kalrn T C 16: 33,853,971 (GRCm39) probably null Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Lipo3 A T 19: 33,536,952 (GRCm39) M256K probably benign Het
Mapk6 C A 9: 75,305,017 (GRCm39) M133I possibly damaging Het
Med21 T A 6: 146,548,781 (GRCm39) probably benign Het
Myrf T A 19: 10,189,857 (GRCm39) E984V probably damaging Het
Nphp4 T G 4: 152,608,689 (GRCm39) probably null Het
Nr1h4 T C 10: 89,314,284 (GRCm39) N295D probably damaging Het
Or10j27 T C 1: 172,958,484 (GRCm39) Q100R possibly damaging Het
Or13n4 A T 7: 106,422,869 (GRCm39) I288N probably damaging Het
Or55b3 T C 7: 102,126,709 (GRCm39) M123V probably damaging Het
Parp9 C A 16: 35,792,202 (GRCm39) probably null Het
Pax4 T C 6: 28,446,278 (GRCm39) I72V probably benign Het
Pcdh7 A G 5: 57,879,090 (GRCm39) I542V probably benign Het
Pcdhgb7 C T 18: 37,885,939 (GRCm39) R370W probably damaging Het
Pik3r1 G A 13: 101,828,744 (GRCm39) T18I probably benign Het
Ppara A G 15: 85,661,962 (GRCm39) I68V probably benign Het
Ptch2 T A 4: 116,963,146 (GRCm39) I211N probably damaging Het
Senp6 G A 9: 80,038,028 (GRCm39) V715M probably damaging Het
Serf2 C T 2: 121,281,184 (GRCm39) P41L possibly damaging Het
Serpina12 T C 12: 104,004,009 (GRCm39) I208V possibly damaging Het
Serpinf2 T C 11: 75,323,326 (GRCm39) D460G probably benign Het
Sh3d21 T C 4: 126,045,665 (GRCm39) E338G probably damaging Het
Slc7a11 T C 3: 50,333,599 (GRCm39) D384G probably damaging Het
Snx15 A G 19: 6,174,181 (GRCm39) probably null Het
Supt16 A G 14: 52,420,549 (GRCm39) F84L probably damaging Het
Tamalin A G 15: 101,128,418 (GRCm39) D152G probably damaging Het
Thoc2l A G 5: 104,668,121 (GRCm39) Y881C probably damaging Het
Tm9sf2 C A 14: 122,380,913 (GRCm39) Q169K probably benign Het
Trim56 A T 5: 137,142,832 (GRCm39) V228E probably benign Het
Triqk T A 4: 12,980,390 (GRCm39) probably null Het
Ttc21a T A 9: 119,795,631 (GRCm39) I1155N possibly damaging Het
Ube3b T G 5: 114,557,692 (GRCm39) Y1059D probably damaging Het
Vmn2r14 T C 5: 109,363,961 (GRCm39) T652A probably benign Het
Wdr4 A G 17: 31,718,798 (GRCm39) V304A probably benign Het
Wwp2 T C 8: 108,280,694 (GRCm39) S646P possibly damaging Het
Zfand5 T A 19: 21,257,009 (GRCm39) S130T probably benign Het
Zfp599 A T 9: 22,161,396 (GRCm39) Y256* probably null Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 T A 13: 92,642,197 (GRCm39) I1209L possibly damaging 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
IGL03135:Naga APN 15 82,214,942 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGGGCTAGGTGTCAGATACATTC -3'
(R):5'- TAACCCTACTGGCCTGTACC -3'

Sequencing Primer
(F):5'- GCTAGGTGTCAGATACATTCATTCTG -3'
(R):5'- TACTGGCCTGTACCTGGGGAG -3'
Posted On 2016-06-15