Incidental Mutation 'IGL01969:Nagpa'
| ID |
181628 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nagpa
|
| Ensembl Gene |
ENSMUSG00000023143 |
| Gene Name |
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
| Synonyms |
alpha-GlcNAcase, UCE |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
5013153-5021876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5013753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 362
(K362E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023911]
[ENSMUST00000147567]
|
| AlphaFold |
Q8BJ48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023911
AA Change: K505E
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000023911
Gene: ENSMUSG00000023143
AA Change: K505E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
|
Pfam:DUF2233
|
131 |
326 |
5.1e-42 |
PFAM |
|
EGF_like
|
329 |
359 |
7.09e1 |
SMART |
|
EGF
|
362 |
391 |
1.36e1 |
SMART |
|
transmembrane domain
|
451 |
473 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147567
AA Change: K362E
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000117051
Gene: ENSMUSG00000023143
AA Change: K362E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2233
|
1 |
183 |
2.1e-35 |
PFAM |
|
EGF_like
|
186 |
216 |
7.09e1 |
SMART |
|
EGF
|
219 |
248 |
1.36e1 |
SMART |
|
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156450
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele have an increased level of acid hydrolases, however the hydrolases contain GlcNAc-P-Man diesters, exhibit a decreased affinity for the cation-independent mannose 6-phosphate receptor and fail to bind to the cation-dependent mannose 6-phosphate receptor. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
A |
8: 124,207,170 (GRCm39) |
P74H |
probably damaging |
Het |
| Aire |
T |
A |
10: 77,878,816 (GRCm39) |
D77V |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,746,872 (GRCm39) |
H571L |
possibly damaging |
Het |
| Apol10b |
T |
C |
15: 77,472,885 (GRCm39) |
|
probably null |
Het |
| Cacna2d2 |
A |
T |
9: 107,386,415 (GRCm39) |
M181L |
probably benign |
Het |
| Ccnl1 |
T |
C |
3: 65,855,908 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,760,138 (GRCm39) |
E1961G |
possibly damaging |
Het |
| Dnajc12 |
C |
A |
10: 63,231,609 (GRCm39) |
H42N |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,753,409 (GRCm39) |
V248A |
possibly damaging |
Het |
| Epha10 |
A |
C |
4: 124,779,670 (GRCm39) |
K172T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,636 (GRCm39) |
Y796H |
probably damaging |
Het |
| Gpr176 |
A |
C |
2: 118,110,118 (GRCm39) |
F380L |
probably damaging |
Het |
| Guca1a |
A |
T |
17: 47,711,268 (GRCm39) |
M26K |
probably damaging |
Het |
| Gucy2g |
T |
G |
19: 55,215,870 (GRCm39) |
M501L |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,835,579 (GRCm39) |
|
probably benign |
Het |
| Itgav |
A |
G |
2: 83,633,627 (GRCm39) |
E1028G |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,354,652 (GRCm39) |
T179A |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,538,502 (GRCm39) |
T383A |
probably benign |
Het |
| Midn |
A |
G |
10: 79,991,093 (GRCm39) |
T325A |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,276,961 (GRCm39) |
Y788H |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,139,313 (GRCm39) |
D571V |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,302,499 (GRCm39) |
H316L |
probably benign |
Het |
| Ola1 |
G |
A |
2: 72,930,490 (GRCm39) |
A266V |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,435 (GRCm39) |
N172S |
possibly damaging |
Het |
| Or4a47 |
A |
G |
2: 89,666,064 (GRCm39) |
I75T |
probably benign |
Het |
| Or5b97 |
C |
A |
19: 12,878,416 (GRCm39) |
A243S |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,539,827 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
C |
16: 17,196,347 (GRCm39) |
V105G |
probably benign |
Het |
| Plppr4 |
G |
T |
3: 117,122,008 (GRCm39) |
T190K |
probably damaging |
Het |
| Pnpla3 |
G |
A |
15: 84,063,425 (GRCm39) |
A268T |
probably benign |
Het |
| Ppp6r2 |
C |
T |
15: 89,159,713 (GRCm39) |
H467Y |
probably damaging |
Het |
| Prkd2 |
C |
T |
7: 16,599,682 (GRCm39) |
T715M |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,415,738 (GRCm39) |
N348S |
probably benign |
Het |
| Ska3 |
A |
G |
14: 58,049,119 (GRCm39) |
V284A |
probably benign |
Het |
| Slc23a1 |
A |
T |
18: 35,757,807 (GRCm39) |
V199D |
possibly damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,312,601 (GRCm39) |
L445P |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,755,171 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
A |
G |
1: 36,864,541 (GRCm39) |
L564S |
possibly damaging |
Het |
| Ttc23l |
G |
A |
15: 10,551,520 (GRCm39) |
Q69* |
probably null |
Het |
|
| Other mutations in Nagpa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02719:Nagpa
|
APN |
16 |
5,019,357 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1248:Nagpa
|
UTSW |
16 |
5,016,480 (GRCm39) |
nonsense |
probably null |
|
|
R1465:Nagpa
|
UTSW |
16 |
5,019,392 (GRCm39) |
splice site |
probably benign |
|
|
R1746:Nagpa
|
UTSW |
16 |
5,021,503 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2919:Nagpa
|
UTSW |
16 |
5,021,651 (GRCm39) |
start gained |
probably benign |
|
|
R4382:Nagpa
|
UTSW |
16 |
5,021,819 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5011:Nagpa
|
UTSW |
16 |
5,013,743 (GRCm39) |
missense |
probably benign |
|
|
R5013:Nagpa
|
UTSW |
16 |
5,013,743 (GRCm39) |
missense |
probably benign |
|
|
R5207:Nagpa
|
UTSW |
16 |
5,017,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5225:Nagpa
|
UTSW |
16 |
5,021,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5327:Nagpa
|
UTSW |
16 |
5,017,877 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6195:Nagpa
|
UTSW |
16 |
5,021,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6539:Nagpa
|
UTSW |
16 |
5,021,565 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6874:Nagpa
|
UTSW |
16 |
5,013,921 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8225:Nagpa
|
UTSW |
16 |
5,016,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Nagpa
|
UTSW |
16 |
5,017,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nagpa
|
UTSW |
16 |
5,021,797 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2014-05-07 |
Incidental Mutation