Incidental Mutation 'IGL03308:Naga'
ID |
416461 |
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 # |
IGL03308
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
82213746-82222983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82220088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 153
(L153Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155062
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023088]
[ENSMUST00000160994]
[ENSMUST00000161178]
[ENSMUST00000229294]
[ENSMUST00000229388]
[ENSMUST00000230380]
[ENSMUST00000229948]
[ENSMUST00000229733]
[ENSMUST00000230269]
|
AlphaFold |
Q9QWR8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023088
AA Change: L153Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023088 Gene: ENSMUSG00000022453 AA Change: L153Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Melibiase_2
|
25 |
394 |
2.1e-171 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159942
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161178
|
SMART Domains |
Protein: ENSMUSP00000124703 Gene: ENSMUSG00000049687
Domain | Start | End | E-Value | Type |
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: ENSMUST00000162983
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229294
AA Change: L137Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229388
AA Change: L153Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000230139
AA Change: L26Q
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230380
AA Change: L153Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229948
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229733
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230268
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230664
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230269
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,821 (GRCm39) |
I216V |
probably damaging |
Het |
Abcc1 |
A |
G |
16: 14,288,475 (GRCm39) |
I1367V |
possibly damaging |
Het |
Ap1g2 |
T |
A |
14: 55,342,333 (GRCm39) |
I175F |
probably benign |
Het |
Atad2 |
A |
G |
15: 57,965,919 (GRCm39) |
V671A |
probably benign |
Het |
Ccdc134 |
A |
G |
15: 82,015,721 (GRCm39) |
D67G |
probably damaging |
Het |
Cdk17 |
G |
A |
10: 93,057,506 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
G |
1: 45,369,777 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,719,675 (GRCm39) |
L228P |
unknown |
Het |
Eef1a2 |
A |
G |
2: 180,790,629 (GRCm39) |
|
probably benign |
Het |
Fars2 |
T |
G |
13: 36,388,670 (GRCm39) |
I53R |
possibly damaging |
Het |
Frmd4a |
G |
T |
2: 4,502,837 (GRCm39) |
A98S |
possibly damaging |
Het |
Gprin1 |
T |
A |
13: 54,887,957 (GRCm39) |
M106L |
probably benign |
Het |
Hspb8 |
T |
C |
5: 116,547,401 (GRCm39) |
T194A |
possibly damaging |
Het |
Ift27 |
A |
G |
15: 78,050,215 (GRCm39) |
S65P |
probably damaging |
Het |
Inpp5d |
A |
C |
1: 87,630,919 (GRCm39) |
Y430S |
probably damaging |
Het |
Kat6b |
T |
C |
14: 21,674,902 (GRCm39) |
S356P |
probably damaging |
Het |
Limch1 |
C |
T |
5: 67,159,901 (GRCm39) |
T443M |
possibly damaging |
Het |
Mcf2l |
C |
T |
8: 13,059,512 (GRCm39) |
R708C |
probably damaging |
Het |
Mlf1 |
T |
C |
3: 67,305,140 (GRCm39) |
W214R |
probably damaging |
Het |
Nbas |
A |
G |
12: 13,374,349 (GRCm39) |
Q559R |
possibly damaging |
Het |
Or2ab1 |
T |
C |
11: 58,488,525 (GRCm39) |
F101S |
probably damaging |
Het |
Or2t6 |
T |
A |
14: 14,175,161 (GRCm38) |
H307L |
probably benign |
Het |
Prex2 |
A |
G |
1: 11,255,399 (GRCm39) |
D1148G |
possibly damaging |
Het |
Prss23 |
A |
C |
7: 89,158,938 (GRCm39) |
L377R |
probably benign |
Het |
Ptprc |
G |
T |
1: 138,054,058 (GRCm39) |
T27K |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,364,998 (GRCm39) |
T4553A |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Skint3 |
T |
C |
4: 112,111,264 (GRCm39) |
F130L |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,749,624 (GRCm39) |
|
probably benign |
Het |
Stau1 |
T |
C |
2: 166,792,240 (GRCm39) |
N433D |
probably damaging |
Het |
Tapbpl |
G |
A |
6: 125,205,142 (GRCm39) |
A268V |
possibly damaging |
Het |
Tmem131l |
T |
C |
3: 83,848,209 (GRCm39) |
I314V |
probably benign |
Het |
Tmem44 |
A |
G |
16: 30,362,566 (GRCm39) |
W151R |
probably damaging |
Het |
Tnnc1 |
T |
C |
14: 30,931,798 (GRCm39) |
|
probably benign |
Het |
Traf5 |
T |
G |
1: 191,729,461 (GRCm39) |
N530T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,576,907 (GRCm39) |
I24662T |
probably damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,341 (GRCm39) |
H220Q |
possibly damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,498,785 (GRCm39) |
C375* |
probably null |
Het |
Vps26b |
T |
C |
9: 26,940,796 (GRCm39) |
Y41C |
probably damaging |
Het |
Wdr64 |
T |
C |
1: 175,594,562 (GRCm39) |
|
probably benign |
Het |
Xylt1 |
C |
T |
7: 117,236,978 (GRCm39) |
Q576* |
probably null |
Het |
Zfp106 |
T |
C |
2: 120,354,505 (GRCm39) |
D1422G |
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 |
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 |
2016-08-02 |