Incidental Mutation 'R2424:Ngly1'
ID 266156
Institutional Source Beutler Lab
Gene Symbol Ngly1
Ensembl Gene ENSMUSG00000021785
Gene Name N-glycanase 1
Synonyms PNGase, 1110002C09Rik, Png1
MMRRC Submission 040386-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R2424 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 6157837-6220449 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 16290721 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000022310
SMART Domains Protein: ENSMUSP00000022310
Gene: ENSMUSG00000021785

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,590,159 (GRCm39) probably null Het
Acot3 G T 12: 84,100,638 (GRCm39) R138L probably damaging Het
Ago3 A G 4: 126,298,040 (GRCm39) V160A probably damaging Het
Akap9 A C 5: 4,115,279 (GRCm39) E166D probably damaging Het
Arid5a T C 1: 36,357,582 (GRCm39) Y136H probably damaging Het
Ascc3 T C 10: 50,494,297 (GRCm39) V244A probably benign Het
Atp10a A T 7: 58,444,303 (GRCm39) H560L probably benign Het
Btbd6 A G 12: 112,941,980 (GRCm39) T482A probably benign Het
Cacna1d A T 14: 29,770,980 (GRCm39) Y1828N probably damaging Het
Capzb A G 4: 138,921,441 (GRCm39) M1V probably null Het
Cdh9 T G 15: 16,850,440 (GRCm39) F524L probably damaging Het
Ctnna1 T C 18: 35,386,760 (GRCm39) S846P probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dock7 T A 4: 98,833,544 (GRCm39) R1886* probably null Het
Dpp3 A T 19: 4,957,735 (GRCm39) L711* probably null Het
Dst T A 1: 34,206,141 (GRCm39) I566N probably damaging Het
Eif2b3 T A 4: 116,928,045 (GRCm39) S421R probably benign Het
Epg5 T C 18: 78,011,828 (GRCm39) V825A probably benign Het
Eya1 T A 1: 14,341,072 (GRCm39) probably benign Het
Fam187a T C 11: 102,776,780 (GRCm39) Y195H probably damaging Het
Fbn2 C T 18: 58,336,859 (GRCm39) C132Y probably damaging Het
Fbxw21 A T 9: 108,986,587 (GRCm39) Y97* probably null Het
Grin1 A T 2: 25,208,664 (GRCm39) C79S probably null Het
Haao T A 17: 84,142,991 (GRCm39) Y118F probably damaging Het
Il11ra1 T A 4: 41,768,222 (GRCm39) S378T probably damaging Het
Kcnj5 A T 9: 32,234,116 (GRCm39) N66K probably damaging Het
Kif21a T A 15: 90,855,399 (GRCm39) N668I probably damaging Het
Kprp A T 3: 92,732,912 (GRCm39) L46Q probably damaging Het
Lama1 C T 17: 68,105,660 (GRCm39) T2056I probably benign Het
Madd G C 2: 90,996,967 (GRCm39) D824E probably damaging Het
Mapk9 A G 11: 49,754,499 (GRCm39) N84S probably damaging Het
Mrpl39 A G 16: 84,527,748 (GRCm39) V160A probably benign Het
Mrpl9 T C 3: 94,351,113 (GRCm39) S98P probably benign Het
Mybpc3 A T 2: 90,966,138 (GRCm39) M1233L probably benign Het
Neb A G 2: 52,099,671 (GRCm39) probably benign Het
Nt5c1b A T 12: 10,420,072 (GRCm39) T4S probably damaging Het
Obscn T C 11: 58,885,277 (GRCm39) probably benign Het
Or2h2c T C 17: 37,422,408 (GRCm39) I155M probably benign Het
Or4k15b T C 14: 50,272,281 (GRCm39) Y193C probably damaging Het
Or8b1b T C 9: 38,376,128 (GRCm39) S264P probably damaging Het
Or8g53 A G 9: 39,683,593 (GRCm39) F168L probably benign Het
Otog A T 7: 45,947,593 (GRCm39) K64* probably null Het
Papola A G 12: 105,793,311 (GRCm39) T544A probably benign Het
Phc1 A G 6: 122,297,002 (GRCm39) V790A probably damaging Het
Phf3 G T 1: 30,845,430 (GRCm39) R1252S probably damaging Het
Phf8-ps T C 17: 33,284,730 (GRCm39) T691A probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rgs17 T A 10: 5,783,111 (GRCm39) I159F probably damaging Het
Rgs17 T A 10: 5,792,560 (GRCm39) E62V probably benign Het
Rnase1 A G 14: 51,383,004 (GRCm39) Y117H possibly damaging Het
Rnf214 T C 9: 45,811,096 (GRCm39) D189G probably damaging Het
Sema4b A G 7: 79,869,023 (GRCm39) N365S probably damaging Het
Setd2 A G 9: 110,446,590 (GRCm39) H2480R probably benign Het
Slc27a6 G T 18: 58,738,189 (GRCm39) C415F probably benign Het
Stim1 A G 7: 102,057,612 (GRCm39) I142V probably benign Het
Supt5 T C 7: 28,014,590 (GRCm39) I1070V possibly damaging Het
Tbp T C 17: 15,733,795 (GRCm39) F174L possibly damaging Het
Tex26 A G 5: 149,393,913 (GRCm39) probably benign Het
Tmem132d A G 5: 127,941,663 (GRCm39) V479A probably benign Het
Ttn T C 2: 76,711,489 (GRCm39) probably benign Het
Urb2 T A 8: 124,757,165 (GRCm39) N957K probably benign Het
Usp24 T C 4: 106,256,310 (GRCm39) probably null Het
Vmn2r114 T C 17: 23,515,842 (GRCm39) T550A possibly damaging Het
Vmn2r72 A G 7: 85,400,161 (GRCm39) V296A probably damaging Het
Vmn2r91 C A 17: 18,356,431 (GRCm39) Y699* probably null Het
Other mutations in Ngly1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers
Posted On 2015-02-05