Incidental Mutation 'R8482:Ngly1'
| ID |
657585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngly1
|
| Ensembl Gene |
ENSMUSG00000021785 |
| Gene Name |
N-glycanase 1 |
| Synonyms |
PNGase, 1110002C09Rik, Png1 |
| MMRRC Submission |
067926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R8482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
6157837-6220449 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16310377 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 501
(S501P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022310]
[ENSMUST00000224656]
|
| AlphaFold |
Q9JI78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022310
AA Change: S556P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022310
Gene: ENSMUSG00000021785
AA Change: S556P
| 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: S501P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (49/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,746,492 (GRCm39) |
V711I |
probably benign |
Het |
| Adprh |
A |
T |
16: 38,267,871 (GRCm39) |
M138K |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,591,107 (GRCm39) |
|
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,870 (GRCm39) |
T410M |
probably damaging |
Het |
| Atxn1 |
A |
T |
13: 45,721,426 (GRCm39) |
S156R |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,934,524 (GRCm39) |
T2850A |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,414,427 (GRCm39) |
D109G |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,441,147 (GRCm39) |
R196* |
probably null |
Het |
| Clec4a2 |
T |
C |
6: 123,100,630 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,720,477 (GRCm39) |
I317T |
probably damaging |
Het |
| D630003M21Rik |
G |
T |
2: 158,058,852 (GRCm39) |
S349R |
probably benign |
Het |
| Eml5 |
C |
A |
12: 98,842,560 (GRCm39) |
L179F |
probably damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Ets2 |
A |
T |
16: 95,516,019 (GRCm39) |
M200L |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,158,263 (GRCm39) |
T1116A |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,751,616 (GRCm38) |
V24A |
probably benign |
Het |
| Gm6685 |
T |
C |
11: 28,289,195 (GRCm39) |
N207S |
probably benign |
Het |
| Hdc |
G |
A |
2: 126,436,125 (GRCm39) |
T582M |
probably benign |
Het |
| Hmgxb4 |
G |
A |
8: 75,756,222 (GRCm39) |
C575Y |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,090,527 (GRCm39) |
S1164T |
probably benign |
Het |
| Ldb1 |
C |
A |
19: 46,024,709 (GRCm39) |
D5Y |
probably null |
Het |
| Lpcat1 |
G |
A |
13: 73,659,044 (GRCm39) |
R320H |
probably benign |
Het |
| Lrfn4 |
T |
C |
19: 4,664,333 (GRCm39) |
D67G |
probably damaging |
Het |
| Myo15b |
C |
T |
11: 115,774,083 (GRCm39) |
Q550* |
probably null |
Het |
| Myo18b |
C |
A |
5: 113,019,489 (GRCm39) |
E43* |
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,241,719 (GRCm39) |
C271R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,532,827 (GRCm39) |
S690G |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 70,999,901 (GRCm39) |
|
probably null |
Het |
| Npw |
A |
G |
17: 24,876,396 (GRCm39) |
W172R |
probably benign |
Het |
| Nudt8 |
T |
C |
19: 4,050,849 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,219,352 (GRCm39) |
Y458F |
probably damaging |
Het |
| Or10ag56 |
G |
A |
2: 87,139,726 (GRCm39) |
V198I |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,258,731 (GRCm39) |
T280S |
probably benign |
Het |
| Pex1 |
A |
T |
5: 3,662,923 (GRCm39) |
I505F |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,029,864 (GRCm39) |
E756G |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,558,166 (GRCm39) |
I282V |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,330,410 (GRCm39) |
S321P |
probably benign |
Het |
| Prxl2a |
C |
T |
14: 40,719,723 (GRCm39) |
E164K |
probably benign |
Het |
| Qdpr |
G |
T |
5: 45,596,688 (GRCm39) |
Q159K |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,206 (GRCm39) |
M45V |
probably benign |
Het |
| Rnaset2b |
G |
A |
17: 7,263,908 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
A |
11: 114,563,114 (GRCm39) |
*71R |
probably null |
Het |
| Sacs |
G |
T |
14: 61,440,404 (GRCm39) |
V817L |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,495,889 (GRCm39) |
F133S |
probably damaging |
Het |
| Sgcg |
G |
A |
14: 61,477,856 (GRCm39) |
L78F |
probably damaging |
Het |
| Slc19a1 |
A |
G |
10: 76,885,497 (GRCm39) |
R466G |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,309,451 (GRCm39) |
T1736A |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,674,511 (GRCm39) |
I1854V |
probably benign |
Het |
| Zfp652 |
T |
C |
11: 95,643,719 (GRCm39) |
S306P |
probably damaging |
Het |
| Zfp998 |
C |
T |
13: 66,579,797 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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'- AGCATTGTCTTTCTCGGTGC -3'
(R):5'- AATGCATACAGCCCTGAGTGTC -3'
Sequencing Primer
(F):5'- CGGTGCTTGCTTTAAGTAATAAACC -3'
(R):5'- GTCAGGCAAATGGTCACTTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation