Incidental Mutation 'R1802:Naga'
| ID |
203242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naga
|
| Ensembl Gene |
ENSMUSG00000022453 |
| Gene Name |
N-acetyl galactosaminidase, alpha |
| Synonyms |
|
| MMRRC Submission |
039832-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1802 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82213746-82222983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82221669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 24
(R24Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023088]
[ENSMUST00000050349]
[ENSMUST00000160994]
[ENSMUST00000161178]
[ENSMUST00000229948]
[ENSMUST00000230380]
[ENSMUST00000229388]
[ENSMUST00000229294]
[ENSMUST00000230269]
[ENSMUST00000229733]
|
| AlphaFold |
Q9QWR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023088
AA Change: R24Q
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: R24Q
| 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: ENSMUST00000050349
|
| SMART Domains |
Protein: ENSMUSP00000060598
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: 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: ENSMUST00000162705
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162983
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229948
AA Change: R24Q
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230380
AA Change: R24Q
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229388
AA Change: R24Q
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229294
AA Change: R8Q
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230269
AA Change: R8Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230139
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
G |
T |
15: 91,047,305 (GRCm39) |
R583S |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,993,029 (GRCm39) |
F492Y |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,816,878 (GRCm39) |
D610V |
probably damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,922,366 (GRCm39) |
|
probably null |
Het |
| Atxn7 |
T |
G |
14: 14,089,419 (GRCm38) |
S312A |
probably benign |
Het |
| Azgp1 |
A |
G |
5: 137,983,493 (GRCm39) |
Y56C |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,900,415 (GRCm39) |
V606A |
possibly damaging |
Het |
| Btnl9 |
T |
A |
11: 49,066,617 (GRCm39) |
I335F |
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,267,940 (GRCm39) |
R9G |
probably damaging |
Het |
| Cdyl |
T |
A |
13: 36,056,619 (GRCm39) |
L534* |
probably null |
Het |
| Celf2 |
T |
C |
2: 6,554,744 (GRCm39) |
E445G |
probably damaging |
Het |
| Cfap97d1 |
T |
A |
11: 101,879,302 (GRCm39) |
Y25N |
possibly damaging |
Het |
| Cimap3 |
T |
A |
3: 105,921,866 (GRCm39) |
Q19L |
possibly damaging |
Het |
| Cnot8 |
T |
C |
11: 58,008,361 (GRCm39) |
C276R |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,844,597 (GRCm39) |
I1135V |
possibly damaging |
Het |
| Edc3 |
A |
G |
9: 57,634,598 (GRCm39) |
D205G |
probably damaging |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| Fancl |
T |
G |
11: 26,409,709 (GRCm39) |
S188R |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,186,048 (GRCm39) |
K1767* |
probably null |
Het |
| Glrb |
A |
T |
3: 80,769,264 (GRCm39) |
H154Q |
probably damaging |
Het |
| Gm19965 |
C |
T |
1: 116,748,633 (GRCm39) |
R105* |
probably null |
Het |
| Grhpr |
C |
A |
4: 44,988,950 (GRCm39) |
Y202* |
probably null |
Het |
| Herc2 |
A |
G |
7: 55,834,080 (GRCm39) |
E3095G |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,502,447 (GRCm39) |
N89Y |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,483,625 (GRCm39) |
D261G |
probably benign |
Het |
| Jmjd7 |
C |
T |
2: 119,860,589 (GRCm39) |
L39F |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,993,871 (GRCm39) |
I360F |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,760,866 (GRCm39) |
Q828R |
unknown |
Het |
| Marchf10 |
C |
A |
11: 105,280,741 (GRCm39) |
A515S |
probably benign |
Het |
| Mios |
T |
A |
6: 8,216,385 (GRCm39) |
Y436* |
probably null |
Het |
| Mprip |
C |
T |
11: 59,645,867 (GRCm39) |
L684F |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,161,894 (GRCm39) |
N519Y |
possibly damaging |
Het |
| Nr2c1 |
G |
A |
10: 93,999,648 (GRCm39) |
V103M |
possibly damaging |
Het |
| Oca2 |
A |
G |
7: 55,904,728 (GRCm39) |
S65G |
possibly damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,977,854 (GRCm39) |
I54V |
probably benign |
Het |
| Phyhipl |
A |
T |
10: 70,434,855 (GRCm39) |
I28N |
probably benign |
Het |
| Pik3cb |
C |
A |
9: 98,983,342 (GRCm39) |
E89* |
probably null |
Het |
| Plekhm2 |
A |
T |
4: 141,361,658 (GRCm39) |
S262T |
probably benign |
Het |
| Ppm1a |
T |
A |
12: 72,840,481 (GRCm39) |
|
probably null |
Het |
| Relt |
T |
C |
7: 100,499,401 (GRCm39) |
I173V |
probably damaging |
Het |
| Rfx7 |
T |
A |
9: 72,526,919 (GRCm39) |
S1370T |
possibly damaging |
Het |
| Rps7 |
G |
A |
12: 28,684,258 (GRCm39) |
R81C |
probably benign |
Het |
| Saa3 |
T |
C |
7: 46,361,550 (GRCm39) |
*123W |
probably null |
Het |
| Serpina3b |
C |
A |
12: 104,104,896 (GRCm39) |
H357Q |
probably damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,378,644 (GRCm39) |
N493K |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,070,197 (GRCm39) |
Y782H |
probably benign |
Het |
| Tfap2a |
T |
C |
13: 40,878,646 (GRCm39) |
D166G |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,771,835 (GRCm39) |
M9K |
probably benign |
Het |
| Tmem269 |
A |
T |
4: 119,068,070 (GRCm39) |
|
probably null |
Het |
| Tnxb |
C |
A |
17: 34,922,863 (GRCm39) |
P2482Q |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,912,940 (GRCm39) |
V291A |
possibly damaging |
Het |
| Zfp930 |
G |
T |
8: 69,679,046 (GRCm39) |
A18S |
possibly damaging |
Het |
| Zup1 |
A |
T |
10: 33,819,714 (GRCm39) |
V200D |
probably damaging |
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 |
|
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 |
PCR Primer
(F):5'- GGCTAGGTGTCAGATACATTCATTC -3'
(R):5'- ACTCTAACCCTACTGGCCTG -3'
Sequencing Primer
(F):5'- GGTGTCAGATACATTCATTCTGACTC -3'
(R):5'- TACTGGCCTGTACCTGGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation