Incidental Mutation 'IGL03290:Ngly1'
| ID |
415877 |
| 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 # |
IGL03290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
6157837-6220449 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16281866 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 248
(I248K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022310]
[ENSMUST00000223973]
[ENSMUST00000224656]
|
| AlphaFold |
Q9JI78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022310
AA Change: I374K
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022310
Gene: ENSMUSG00000021785
AA Change: I374K
| 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 |
noncoding transcript
Transcript: ENSMUST00000143947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153109
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223973
AA Change: I248K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224656
AA Change: I374K
PolyPhen 2
Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,302,646 (GRCm39) |
|
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,942,296 (GRCm39) |
S2P |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,770,715 (GRCm39) |
F398S |
probably damaging |
Het |
| BC034090 |
T |
G |
1: 155,101,856 (GRCm39) |
D136A |
probably damaging |
Het |
| Ces5a |
A |
C |
8: 94,246,260 (GRCm39) |
F310V |
probably damaging |
Het |
| Chsy1 |
T |
C |
7: 65,820,779 (GRCm39) |
V338A |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,064,944 (GRCm39) |
E385G |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,591,543 (GRCm39) |
|
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,650,097 (GRCm39) |
S262P |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,045 (GRCm39) |
N3984D |
probably benign |
Het |
| Fbxo38 |
A |
T |
18: 62,659,234 (GRCm39) |
H354Q |
probably benign |
Het |
| Fgf6 |
T |
A |
6: 127,001,095 (GRCm39) |
V201D |
probably damaging |
Het |
| Gm16181 |
A |
T |
17: 35,442,933 (GRCm39) |
|
probably benign |
Het |
| Gm6811 |
T |
C |
17: 21,314,311 (GRCm39) |
|
noncoding transcript |
Het |
| Gna11 |
A |
G |
10: 81,366,771 (GRCm39) |
F313S |
probably damaging |
Het |
| Gprc6a |
C |
T |
10: 51,491,968 (GRCm39) |
A523T |
probably damaging |
Het |
| Il22 |
T |
C |
10: 118,041,785 (GRCm39) |
|
probably null |
Het |
| Insr |
T |
C |
8: 3,308,574 (GRCm39) |
Y154C |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,449,780 (GRCm39) |
D86E |
probably benign |
Het |
| Itk |
C |
A |
11: 46,225,764 (GRCm39) |
W529L |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,765,887 (GRCm39) |
A572S |
probably benign |
Het |
| Ldhc |
C |
T |
7: 46,519,112 (GRCm39) |
R112C |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,779,685 (GRCm39) |
|
probably benign |
Het |
| Mdh2 |
A |
G |
5: 135,818,567 (GRCm39) |
E274G |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,575,161 (GRCm39) |
D711E |
probably benign |
Het |
| Or2ab1 |
A |
G |
11: 58,489,149 (GRCm39) |
N309S |
probably damaging |
Het |
| Or7e176 |
T |
C |
9: 20,171,556 (GRCm39) |
I140T |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,829,241 (GRCm39) |
E1421G |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,822,518 (GRCm39) |
R112H |
possibly damaging |
Het |
| Pgrmc2 |
T |
C |
3: 41,023,061 (GRCm39) |
|
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Pogz |
A |
T |
3: 94,782,402 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,771 (GRCm39) |
Y159H |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,231 (GRCm39) |
K135E |
probably damaging |
Het |
| Rbm7 |
T |
A |
9: 48,401,267 (GRCm39) |
M154L |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,420,264 (GRCm39) |
S283P |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,179,273 (GRCm39) |
S30P |
probably benign |
Het |
| Samd13 |
T |
C |
3: 146,352,070 (GRCm39) |
T75A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,848,508 (GRCm39) |
W22R |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,412,955 (GRCm39) |
R43W |
probably damaging |
Het |
| Smc5 |
A |
G |
19: 23,251,022 (GRCm39) |
V54A |
probably benign |
Het |
| Snap47 |
A |
G |
11: 59,319,424 (GRCm39) |
I238T |
probably damaging |
Het |
| Tecpr2 |
T |
G |
12: 110,934,267 (GRCm39) |
I1309S |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,953,992 (GRCm39) |
L1310P |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,915,408 (GRCm39) |
H118Q |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,194,244 (GRCm39) |
T731I |
probably damaging |
Het |
| Zfp287 |
A |
G |
11: 62,606,062 (GRCm39) |
F282L |
probably 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 |
|
|
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 |
2016-08-02 |
Incidental Mutation