Incidental Mutation 'R1179:Naga'
| ID |
100253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naga
|
| Ensembl Gene |
ENSMUSG00000022453 |
| Gene Name |
N-acetyl galactosaminidase, alpha |
| Synonyms |
|
| MMRRC Submission |
039251-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1179 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82213746-82222983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82214357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 385
(N385Y)
|
| 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: N385Y
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: N385Y
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
- 1x: 98.8%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.3%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,117,054 (GRCm39) |
|
probably null |
Het |
| Aknad1 |
T |
C |
3: 108,659,783 (GRCm39) |
S266P |
possibly damaging |
Het |
| Gaa |
A |
T |
11: 119,171,954 (GRCm39) |
R686W |
probably damaging |
Het |
| Gls2 |
A |
T |
10: 128,035,103 (GRCm39) |
T79S |
probably damaging |
Het |
| Golga2 |
G |
T |
2: 32,193,707 (GRCm39) |
R511L |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,239,850 (GRCm39) |
S3363P |
unknown |
Het |
| Ift81 |
T |
C |
5: 122,740,773 (GRCm39) |
K187R |
probably benign |
Het |
| Kcnj1 |
T |
A |
9: 32,308,062 (GRCm39) |
I162N |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mc5r |
C |
G |
18: 68,471,741 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,362,762 (GRCm39) |
V163A |
probably damaging |
Het |
| Or6c202 |
A |
C |
10: 128,995,927 (GRCm39) |
S309A |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,785,371 (GRCm39) |
S267P |
possibly damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,094,205 (GRCm39) |
E378G |
probably damaging |
Het |
| Pnisr |
A |
G |
4: 21,865,937 (GRCm39) |
T309A |
possibly damaging |
Het |
| Rad54l |
A |
T |
4: 115,968,517 (GRCm39) |
L93Q |
probably benign |
Het |
| Ralgps2 |
G |
T |
1: 156,729,369 (GRCm39) |
P50Q |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,786,165 (GRCm39) |
V594A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmem17 |
A |
T |
11: 22,468,454 (GRCm39) |
N131I |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,714,749 (GRCm39) |
R107H |
possibly damaging |
Het |
| Vmp1 |
T |
C |
11: 86,498,055 (GRCm39) |
T287A |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,414,700 (GRCm39) |
H1185L |
probably damaging |
Het |
| Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Naga |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation