Incidental Mutation 'IGL01148:Naga'
| ID |
52874 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Naga
|
| Ensembl Gene |
ENSMUSG00000022453 |
| Gene Name |
N-acetyl galactosaminidase, alpha |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82213746-82222983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82214861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 366
(Y366H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023088]
[ENSMUST00000229294]
[ENSMUST00000229388]
[ENSMUST00000229733]
[ENSMUST00000229948]
[ENSMUST00000230380]
|
| AlphaFold |
Q9QWR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023088
AA Change: Y366H
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: Y366H
| 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 |
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
T |
11: 69,781,729 (GRCm39) |
C64* |
probably null |
Het |
| Ccng2 |
G |
A |
5: 93,418,746 (GRCm39) |
D124N |
probably damaging |
Het |
| Cttnbp2 |
G |
A |
6: 18,382,817 (GRCm39) |
P1317L |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,453,982 (GRCm39) |
V29E |
probably damaging |
Het |
| Exoc6b |
T |
C |
6: 84,885,208 (GRCm39) |
K244E |
probably benign |
Het |
| Fastkd5 |
A |
G |
2: 130,456,605 (GRCm39) |
F662L |
probably benign |
Het |
| Fbxl18 |
T |
C |
5: 142,871,580 (GRCm39) |
M488V |
probably damaging |
Het |
| Gas2l3 |
C |
T |
10: 89,249,366 (GRCm39) |
G584D |
probably benign |
Het |
| Gm28042 |
T |
C |
2: 119,869,519 (GRCm39) |
F405L |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,317,168 (GRCm39) |
K635E |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,654 (GRCm39) |
Y48C |
probably damaging |
Het |
| Hddc2 |
T |
C |
10: 31,192,330 (GRCm39) |
I78T |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,273,969 (GRCm39) |
M2708K |
probably benign |
Het |
| Ift88 |
T |
C |
14: 57,677,189 (GRCm39) |
S119P |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,925,668 (GRCm39) |
C388R |
probably damaging |
Het |
| Mymx |
G |
T |
17: 45,912,594 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,257,006 (GRCm39) |
E208G |
probably damaging |
Het |
| Nr4a2 |
C |
T |
2: 57,001,983 (GRCm39) |
V94M |
probably benign |
Het |
| Or4c124 |
G |
T |
2: 89,156,368 (GRCm39) |
T52K |
probably benign |
Het |
| Osbpl8 |
G |
T |
10: 111,112,424 (GRCm39) |
|
probably benign |
Het |
| Pitpnb |
T |
A |
5: 111,486,222 (GRCm39) |
V42D |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,623,141 (GRCm39) |
R801G |
probably benign |
Het |
| Pthlh |
G |
A |
6: 147,154,073 (GRCm39) |
T174M |
probably benign |
Het |
| Sco2 |
T |
C |
15: 89,255,924 (GRCm39) |
I243M |
probably benign |
Het |
| Sema5a |
G |
A |
15: 32,681,641 (GRCm39) |
V907M |
probably benign |
Het |
| Semp2l1 |
A |
G |
1: 32,584,735 (GRCm39) |
S392P |
possibly damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,724,253 (GRCm39) |
E309G |
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,934,387 (GRCm39) |
K106* |
probably null |
Het |
| Tas2r105 |
T |
A |
6: 131,663,815 (GRCm39) |
R204S |
probably damaging |
Het |
| Tgm5 |
A |
G |
2: 120,877,156 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,893,312 (GRCm39) |
I939V |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,674,205 (GRCm39) |
N574I |
probably damaging |
Het |
| Zfand3 |
A |
T |
17: 30,354,374 (GRCm39) |
T64S |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,307,644 (GRCm39) |
H312Y |
probably benign |
Het |
|
| Other mutations in Naga |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation