Incidental Mutation 'R6658:Naga'
ID 526739
Institutional Source Beutler Lab
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 # R6658 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 82213746-82222983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 82214975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 328 (K328Q)
Ref Sequence ENSEMBL: ENSMUSP00000023088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023088] [ENSMUST00000229294] [ENSMUST00000229388] [ENSMUST00000229733] [ENSMUST00000229948] [ENSMUST00000230380]
AlphaFold Q9QWR8
Predicted Effect probably benign
Transcript: ENSMUST00000023088
AA Change: K328Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: K328Q

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 96% (53/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,077,353 (GRCm39) N1340S probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Antxr1 C A 6: 87,261,291 (GRCm39) R167L probably damaging Het
BC107364 T C 3: 96,348,026 (GRCm39) S88G unknown Het
Cfap100 T G 6: 90,390,400 (GRCm39) E80A probably damaging Het
Dhx8 C A 11: 101,655,748 (GRCm39) H1107Q probably damaging Het
Dip2c G A 13: 9,543,213 (GRCm39) probably null Het
Dpep2 A T 8: 106,716,542 (GRCm39) D212E probably benign Het
Dpep3 T C 8: 106,705,728 (GRCm39) T66A probably benign Het
Fat4 G T 3: 38,997,077 (GRCm39) M1765I probably benign Het
Gbgt1 G A 2: 28,394,998 (GRCm39) R212H probably benign Het
Gimap4 T C 6: 48,668,338 (GRCm39) S215P possibly damaging Het
Gpr161 A T 1: 165,134,136 (GRCm39) T133S possibly damaging Het
Grin2c G T 11: 115,149,108 (GRCm39) S163R possibly damaging Het
Grip2 T A 6: 91,763,472 (GRCm39) N109Y probably damaging Het
H60c G A 10: 3,210,270 (GRCm39) T93I possibly damaging Het
Hmgcl A G 4: 135,682,962 (GRCm39) N138S probably damaging Het
Hoxa3 G T 6: 52,147,058 (GRCm39) Y398* probably null Het
Igkv1-132 A G 6: 67,737,091 (GRCm39) N19S probably benign Het
Ikbip A G 10: 90,932,181 (GRCm39) N275S probably benign Het
Il7 T A 3: 7,642,239 (GRCm39) T33S probably benign Het
Iqgap2 A T 13: 95,796,840 (GRCm39) Y1105N probably damaging Het
Lmo7 A G 14: 102,148,281 (GRCm39) D934G possibly damaging Het
Mroh4 T C 15: 74,492,978 (GRCm39) Q310R possibly damaging Het
Mtmr14 C A 6: 113,242,437 (GRCm39) Y22* probably null Het
Muc5b G T 7: 141,422,244 (GRCm39) probably null Het
Neo1 G A 9: 58,829,132 (GRCm39) T589I probably benign Het
Nme5 A C 18: 34,711,639 (GRCm39) I34S probably damaging Het
Nrip2 T C 6: 128,385,199 (GRCm39) L210P possibly damaging Het
Nup93 A G 8: 95,030,807 (GRCm39) D424G probably benign Het
Or12e9 T C 2: 87,202,497 (GRCm39) V207A probably benign Het
Or1e26 G A 11: 73,479,874 (GRCm39) S230F probably damaging Het
Papss1 T A 3: 131,311,696 (GRCm39) V308E probably benign Het
Pilrb1 T A 5: 137,855,789 (GRCm39) Y34F probably benign Het
Pira2 T A 7: 3,845,300 (GRCm39) E319D probably benign Het
Pkhd1 G A 1: 20,682,929 (GRCm39) T91M probably damaging Het
Prph2 A G 17: 47,230,790 (GRCm39) T228A probably benign Het
Ranbp17 G T 11: 33,169,214 (GRCm39) S1000* probably null Het
Rbm27 A C 18: 42,457,178 (GRCm39) H651P probably damaging Het
Scyl2 A T 10: 89,476,835 (GRCm39) D763E probably benign Het
Sltm A G 9: 70,488,644 (GRCm39) Y598C probably damaging Het
Smc2 A T 4: 52,451,322 (GRCm39) K322I probably benign Het
Tcf4 G A 18: 69,790,873 (GRCm39) R271Q probably null Het
Tex36 C T 7: 133,196,140 (GRCm39) D87N probably damaging Het
Tex44 A C 1: 86,354,751 (GRCm39) H220P probably benign Het
Tjp1 T C 7: 64,950,825 (GRCm39) D1683G possibly damaging Het
Trav7-2 T C 14: 53,628,573 (GRCm39) S104P probably damaging Het
Trim55 C T 3: 19,745,719 (GRCm39) R532C probably damaging Het
Ube3c T A 5: 29,807,215 (GRCm39) L338Q probably damaging Het
Ush2a A G 1: 188,546,556 (GRCm39) H3444R possibly damaging Het
Vars1 A G 17: 35,234,717 (GRCm39) D1182G probably benign Het
Vit T A 17: 78,930,232 (GRCm39) I399N possibly damaging Het
Vmn1r16 A T 6: 57,300,091 (GRCm39) L177* probably null 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
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
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'- GGTCATTCATCCCCAGTAGC -3'
(R):5'- ATGTCACATCTCCTCGGGTC -3'

Sequencing Primer
(F):5'- CAGTAGCTCATTCTACATAGCTGG -3'
(R):5'- ATCTCCTCGGGTCTCTGTGAC -3'
Posted On 2018-07-23