Incidental Mutation 'R3834:Ngly1'
| ID |
275558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngly1
|
| Ensembl Gene |
ENSMUSG00000021785 |
| Gene Name |
N-glycanase 1 |
| Synonyms |
PNGase, 1110002C09Rik, Png1 |
| MMRRC Submission |
040889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R3834 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
6157837-6220449 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 16290766 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022310]
[ENSMUST00000224656]
|
| AlphaFold |
Q9JI78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022310
|
| SMART Domains |
Protein: ENSMUSP00000022310
Gene: ENSMUSG00000021785
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,964,683 (GRCm39) |
T1389A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,636,985 (GRCm39) |
|
probably benign |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Coq5 |
G |
T |
5: 115,422,635 (GRCm39) |
G180W |
probably damaging |
Het |
| Cyp2d34 |
A |
G |
15: 82,500,947 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
C |
T |
4: 95,944,794 (GRCm39) |
|
probably null |
Het |
| Fam114a1 |
C |
T |
5: 65,163,416 (GRCm39) |
T197I |
possibly damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,240,707 (GRCm39) |
Y227H |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,161 (GRCm39) |
H486L |
possibly damaging |
Het |
| Grik4 |
T |
C |
9: 42,540,419 (GRCm39) |
R254G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,304,380 (GRCm39) |
I47T |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,912,428 (GRCm39) |
Y278C |
probably damaging |
Het |
| Lbhd1 |
G |
A |
19: 8,861,421 (GRCm39) |
C43Y |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,886,816 (GRCm39) |
D201E |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,137,803 (GRCm39) |
G2635D |
probably damaging |
Het |
| Ms4a4a |
A |
T |
19: 11,356,219 (GRCm39) |
M35L |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Mug2 |
T |
C |
6: 122,026,746 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
A |
7: 49,195,606 (GRCm39) |
I994N |
possibly damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,074,291 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
A |
G |
7: 102,424,493 (GRCm39) |
Y254C |
probably damaging |
Het |
| Or52h9 |
T |
A |
7: 104,202,552 (GRCm39) |
V142D |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,279 (GRCm39) |
D194V |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,266 (GRCm39) |
V372I |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,720,796 (GRCm39) |
K48N |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,011,305 (GRCm39) |
N584I |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Rps20 |
A |
T |
4: 3,834,610 (GRCm39) |
I84N |
probably damaging |
Het |
| Scd3 |
A |
G |
19: 44,230,156 (GRCm39) |
Y313C |
probably damaging |
Het |
| Sertad2 |
T |
C |
11: 20,598,482 (GRCm39) |
I226T |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Slco1a1 |
G |
T |
6: 141,889,163 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,785,776 (GRCm39) |
I622N |
possibly damaging |
Het |
| Tmc4 |
C |
T |
7: 3,675,006 (GRCm39) |
V222M |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,010,786 (GRCm39) |
F359L |
probably damaging |
Het |
| Tmem238 |
C |
A |
7: 4,792,078 (GRCm39) |
R155L |
possibly damaging |
Het |
| Vmn1r32 |
C |
A |
6: 66,530,647 (GRCm39) |
C43F |
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,250,183 (GRCm39) |
R696K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGCCCATTTTAAAGCTGC -3'
(R):5'- CAGCCTTCTTGCCTAGAACAC -3'
Sequencing Primer
(F):5'- GCTGCAATAATCCAGGTCATG -3'
(R):5'- TCTTGCCTAGAACACATACCTCTAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation