Incidental Mutation 'R1248:Nagpa'
| ID |
152205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nagpa
|
| Ensembl Gene |
ENSMUSG00000023143 |
| Gene Name |
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
| Synonyms |
alpha-GlcNAcase, UCE |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
5013153-5021876 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 5016480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 236
(C236*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023911]
[ENSMUST00000147567]
|
| AlphaFold |
Q8BJ48 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023911
AA Change: C379*
|
| SMART Domains |
Protein: ENSMUSP00000023911
Gene: ENSMUSG00000023143
AA Change: C379*
| 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 null
Transcript: ENSMUST00000147567
AA Change: C236*
|
| SMART Domains |
Protein: ENSMUSP00000117051
Gene: ENSMUSG00000023143
AA Change: C236*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| 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 |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
probably damaging |
Het |
|
| Other mutations in Nagpa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01969:Nagpa
|
APN |
16 |
5,013,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02719:Nagpa
|
APN |
16 |
5,019,357 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCTGATGCTGAAACCACCC -3'
(R):5'- TGTGAATGCACCAGCCACTTCTG -3'
Sequencing Primer
(F):5'- GGGACTCTTTCAGTAGGTAGAACATC -3'
(R):5'- CAGCCACTTCTGGCGGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation