Incidental Mutation 'R6066:Ngly1'
| ID |
484057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngly1
|
| Ensembl Gene |
ENSMUSG00000021785 |
| Gene Name |
N-glycanase 1 |
| Synonyms |
PNGase, 1110002C09Rik, Png1 |
| MMRRC Submission |
044230-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R6066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
6157837-6220449 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 16294634 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 521
(M521I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022310]
[ENSMUST00000224656]
|
| AlphaFold |
Q9JI78 |
| PDB Structure |
Solution structure of the N-terminal portion of the PUB domain of mouse peptide:N-glycanase [SOLUTION NMR]
The Mouse PNGase-HR23 Complex Reveals a Complete Remodulation of the Protein-Protein Interface Compared to its Yeast Orthologs [X-RAY DIFFRACTION]
The Mouse PNGase-HR23 Complex Reveals a Complete Remodulation of the Protein-Protein Interface Compared to its Yeast Orthologs [X-RAY DIFFRACTION]
Crystal structure of intein-tagged mouse PNGase C-terminal domain [X-RAY DIFFRACTION]
Crystal structure of His-tagged mouse PNGase C-terminal domain [X-RAY DIFFRACTION]
Crystal structure of the PUB domain of mouse PNGase [X-RAY DIFFRACTION]
Crystal structure of the mouse p97/PNGase complex [X-RAY DIFFRACTION]
Crystal structure of mouse Peptide N-Glycanase C-terminal domain in complex with mannopentaose [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022310
AA Change: M521I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000022310
Gene: ENSMUSG00000021785
AA Change: M521I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
PUG
|
30 |
91 |
1.83e-22 |
SMART |
|
TGc
|
298 |
353 |
6.19e-14 |
SMART |
|
Blast:PAW
|
376 |
415 |
2e-15 |
BLAST |
|
low complexity region
|
416 |
433 |
N/A |
INTRINSIC |
|
Blast:PAW
|
434 |
472 |
3e-15 |
BLAST |
|
PAW
|
484 |
576 |
1.05e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224656
AA Change: M466I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit dysregulation of the endoplasmic reticulum (ER)-associated degradation (ERAD) process. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,412,308 (GRCm39) |
F429S |
probably damaging |
Het |
| Ahi1 |
A |
T |
10: 20,835,825 (GRCm39) |
M53L |
possibly damaging |
Het |
| Ahr |
A |
T |
12: 35,554,920 (GRCm39) |
F400I |
probably damaging |
Het |
| Ak7 |
G |
T |
12: 105,699,750 (GRCm39) |
G223V |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,726,698 (GRCm39) |
I128V |
possibly damaging |
Het |
| Ampd3 |
A |
T |
7: 110,392,974 (GRCm39) |
E247D |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Arhgef10l |
A |
G |
4: 140,304,391 (GRCm39) |
F243L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,269,537 (GRCm39) |
V661E |
probably damaging |
Het |
| Cox8c |
A |
G |
12: 102,866,534 (GRCm39) |
T53A |
probably benign |
Het |
| Creld2 |
C |
A |
15: 88,707,969 (GRCm39) |
T236K |
possibly damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,476 (GRCm39) |
C250S |
probably benign |
Het |
| Dhx37 |
A |
C |
5: 125,501,730 (GRCm39) |
F510V |
probably benign |
Het |
| Fblim1 |
T |
C |
4: 141,305,220 (GRCm39) |
D350G |
probably damaging |
Het |
| Lipm |
A |
G |
19: 34,090,374 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,768,049 (GRCm39) |
F348S |
probably benign |
Het |
| Misp |
A |
G |
10: 79,662,146 (GRCm39) |
R188G |
possibly damaging |
Het |
| Nbeal1 |
T |
G |
1: 60,287,564 (GRCm39) |
I936S |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,510 (GRCm39) |
Y376F |
probably benign |
Het |
| Oas3 |
T |
C |
5: 120,910,989 (GRCm39) |
K197R |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,511,276 (GRCm39) |
Y353H |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,822,828 (GRCm39) |
N625D |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,391,525 (GRCm39) |
S1530R |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,799,740 (GRCm39) |
P457L |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,831,258 (GRCm39) |
S565P |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,726,301 (GRCm39) |
M163V |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,171 (GRCm39) |
T2890A |
unknown |
Het |
| Tatdn3 |
A |
T |
1: 190,778,465 (GRCm39) |
V242E |
probably benign |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,864 (GRCm39) |
M38L |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,258,573 (GRCm39) |
F524L |
possibly damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,695 (GRCm39) |
S239P |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,919,778 (GRCm39) |
D679G |
probably null |
Het |
| Zbtb42 |
C |
A |
12: 112,646,041 (GRCm39) |
T72K |
probably damaging |
Het |
| Zfp493 |
G |
A |
13: 67,935,069 (GRCm39) |
A341T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,801 (GRCm39) |
C80R |
possibly damaging |
Het |
|
| Other mutations in Ngly1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01807:Ngly1
|
APN |
14 |
16,290,873 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL02199:Ngly1
|
APN |
14 |
16,290,844 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02809:Ngly1
|
APN |
14 |
16,281,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02865:Ngly1
|
APN |
14 |
16,290,939 (GRCm38) |
intron |
probably benign |
|
|
IGL03209:Ngly1
|
APN |
14 |
16,281,831 (GRCm38) |
nonsense |
probably null |
|
|
IGL03290:Ngly1
|
APN |
14 |
16,281,866 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02799:Ngly1
|
UTSW |
14 |
16,260,636 (GRCm38) |
missense |
probably benign |
|
|
R0518:Ngly1
|
UTSW |
14 |
16,290,774 (GRCm38) |
nonsense |
probably null |
|
|
R0521:Ngly1
|
UTSW |
14 |
16,290,774 (GRCm38) |
nonsense |
probably null |
|
|
R1612:Ngly1
|
UTSW |
14 |
16,290,867 (GRCm38) |
nonsense |
probably null |
|
|
R1851:Ngly1
|
UTSW |
14 |
16,260,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2060:Ngly1
|
UTSW |
14 |
16,277,877 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R2424:Ngly1
|
UTSW |
14 |
16,290,721 (GRCm38) |
splice site |
probably null |
|
|
R2696:Ngly1
|
UTSW |
14 |
16,283,439 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R3834:Ngly1
|
UTSW |
14 |
16,290,766 (GRCm38) |
intron |
probably benign |
|
|
R3883:Ngly1
|
UTSW |
14 |
16,270,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4700:Ngly1
|
UTSW |
14 |
16,281,809 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5160:Ngly1
|
UTSW |
14 |
16,281,751 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5555:Ngly1
|
UTSW |
14 |
16,270,508 (GRCm38) |
nonsense |
probably null |
|
|
R5603:Ngly1
|
UTSW |
14 |
16,260,762 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5764:Ngly1
|
UTSW |
14 |
16,260,799 (GRCm38) |
missense |
probably benign |
|
|
R5980:Ngly1
|
UTSW |
14 |
16,270,509 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6887:Ngly1
|
UTSW |
14 |
16,281,836 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6943:Ngly1
|
UTSW |
14 |
16,283,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7101:Ngly1
|
UTSW |
14 |
16,283,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7447:Ngly1
|
UTSW |
14 |
16,290,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7748:Ngly1
|
UTSW |
14 |
16,290,820 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8123:Ngly1
|
UTSW |
14 |
16,260,799 (GRCm38) |
missense |
probably benign |
|
|
R8482:Ngly1
|
UTSW |
14 |
16,310,377 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8854:Ngly1
|
UTSW |
14 |
16,281,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9094:Ngly1
|
UTSW |
14 |
16,280,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9349:Ngly1
|
UTSW |
14 |
16,281,801 (GRCm38) |
nonsense |
probably null |
|
|
X0053:Ngly1
|
UTSW |
14 |
16,254,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTGCCTCGTGTTATATCAG -3'
(R):5'- GGGAACATGACTTTCTTTTCCCAC -3'
Sequencing Primer
(F):5'- GCCTCGTGTTATATCAGTATTTGAC -3'
(R):5'- ACATGACTTTCTTTTCCCACTTCAAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation