Incidental Mutation 'R6080:Naga'
| ID |
482898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naga
|
| Ensembl Gene |
ENSMUSG00000022453 |
| Gene Name |
N-acetyl galactosaminidase, alpha |
| Synonyms |
|
| MMRRC Submission |
044239-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82213746-82222983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82219048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 233
(V233A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023088]
[ENSMUST00000160994]
[ENSMUST00000229294]
[ENSMUST00000229388]
[ENSMUST00000229733]
[ENSMUST00000229948]
[ENSMUST00000230380]
[ENSMUST00000230269]
|
| AlphaFold |
Q9QWR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023088
AA Change: V233A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: V233A
| 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: ENSMUST00000229294
AA Change: V217A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229948
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230380
AA Change: V233A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230139
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,906,462 (GRCm39) |
M44I |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 90,802,211 (GRCm39) |
S1209* |
probably null |
Het |
| Atp9b |
A |
G |
18: 80,782,023 (GRCm39) |
V1039A |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,099,271 (GRCm39) |
S278P |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,992,876 (GRCm39) |
K246R |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,881,197 (GRCm39) |
D330E |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,882,961 (GRCm39) |
M2940L |
possibly damaging |
Het |
| Gm14326 |
T |
A |
2: 177,578,339 (GRCm39) |
T68S |
probably benign |
Het |
| Gm4922 |
A |
C |
10: 18,660,500 (GRCm39) |
I74S |
probably damaging |
Het |
| Ints14 |
G |
A |
9: 64,874,044 (GRCm39) |
V99I |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,332,345 (GRCm39) |
S1681P |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,678,316 (GRCm39) |
E513G |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,305,035 (GRCm39) |
N252I |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,352,408 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,814,050 (GRCm39) |
Y123S |
probably damaging |
Het |
| Or52n4 |
T |
C |
7: 104,294,517 (GRCm39) |
I19V |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,771,116 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i2 |
C |
A |
19: 13,816,464 (GRCm39) |
L24F |
possibly damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Plag1 |
T |
C |
4: 3,903,815 (GRCm39) |
T459A |
probably benign |
Het |
| Rnase9 |
T |
C |
14: 51,276,727 (GRCm39) |
T84A |
probably benign |
Het |
| Rps6kb2 |
T |
A |
19: 4,208,671 (GRCm39) |
I282F |
probably benign |
Het |
| Smg5 |
A |
G |
3: 88,258,816 (GRCm39) |
T596A |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,218,524 (GRCm39) |
V256A |
possibly damaging |
Het |
| Vgll4 |
T |
C |
6: 114,898,299 (GRCm39) |
I21V |
probably benign |
Het |
| Vipas39 |
T |
A |
12: 87,288,727 (GRCm39) |
H426L |
probably damaging |
Het |
| Vmn1r224 |
A |
G |
17: 20,639,818 (GRCm39) |
T132A |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,143,283 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,043 (GRCm39) |
N663K |
probably damaging |
Het |
| Zfp819 |
A |
G |
7: 43,266,120 (GRCm39) |
H201R |
probably benign |
Het |
| Zfp946 |
T |
A |
17: 22,674,090 (GRCm39) |
H281Q |
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 |
|
|
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 |
|
|
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'- GTGAATCCAGACCTTAAAGGGG -3'
(R):5'- CCAAGTCTCCAACTGTTAGCC -3'
Sequencing Primer
(F):5'- CCACAGCGTGAGGAACTGTATTAC -3'
(R):5'- AACTGTTAGCCTCCCCAGCTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation