Incidental Mutation 'IGL01807:Ngly1'
| ID |
155706 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ngly1
|
| Ensembl Gene |
ENSMUSG00000021785 |
| Gene Name |
N-glycanase 1 |
| Synonyms |
PNGase, 1110002C09Rik, Png1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
IGL01807
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
6157837-6220449 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 16290873 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 452
(L452F)
|
| 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: L452F
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022310
Gene: ENSMUSG00000021785
AA Change: L452F
| 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
|
| Coding Region Coverage |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
T |
6: 142,551,640 (GRCm39) |
L1223M |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,330,418 (GRCm39) |
E814G |
possibly damaging |
Het |
| Atf1 |
T |
C |
15: 100,149,945 (GRCm39) |
|
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,457,158 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,938,032 (GRCm39) |
I2625V |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,654,897 (GRCm39) |
S545P |
probably benign |
Het |
| Cacna1i |
T |
A |
15: 80,258,348 (GRCm39) |
I1173N |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,206,616 (GRCm39) |
E210G |
probably benign |
Het |
| Ccl2 |
G |
A |
11: 81,926,513 (GRCm39) |
G9D |
possibly damaging |
Het |
| Chmp2b |
T |
A |
16: 65,337,091 (GRCm39) |
T189S |
probably benign |
Het |
| Col4a1 |
A |
T |
8: 11,297,056 (GRCm39) |
|
probably benign |
Het |
| Ecm1 |
A |
G |
3: 95,643,891 (GRCm39) |
S236P |
probably damaging |
Het |
| Epha8 |
A |
G |
4: 136,658,993 (GRCm39) |
V887A |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,533,856 (GRCm39) |
M36V |
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,999,506 (GRCm39) |
|
probably benign |
Het |
| Mtmr4 |
A |
G |
11: 87,494,976 (GRCm39) |
I423V |
possibly damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,091 (GRCm39) |
W27R |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,936 (GRCm39) |
T166A |
possibly damaging |
Het |
| Pak2 |
T |
C |
16: 31,856,097 (GRCm39) |
K247E |
probably damaging |
Het |
| Pola2 |
A |
G |
19: 6,003,187 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
C |
T |
6: 5,158,248 (GRCm39) |
Q1219* |
probably null |
Het |
| Rasgrf1 |
T |
C |
9: 89,873,566 (GRCm39) |
I625T |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,613,189 (GRCm39) |
T120A |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,134,288 (GRCm39) |
Y252C |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,734,737 (GRCm39) |
*686R |
probably null |
Het |
| Smc1b |
T |
A |
15: 84,980,946 (GRCm39) |
D774V |
probably damaging |
Het |
| Uba6 |
C |
T |
5: 86,270,270 (GRCm39) |
R838Q |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,084,251 (GRCm39) |
S105P |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,374,729 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
A |
G |
2: 67,345,375 (GRCm39) |
T2539A |
probably benign |
Het |
| Zfpm2 |
T |
C |
15: 40,616,452 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ngly1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6066:Ngly1
|
UTSW |
14 |
16,294,634 (GRCm38) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation