Incidental Mutation 'IGL03209:Ngly1'
ID413227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ngly1
Ensembl Gene ENSMUSG00000021785
Gene NameN-glycanase 1
SynonymsPng1, PNGase, 1110002C09Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.836) question?
Stock #IGL03209
Quality Score
Status
Chromosome14
Chromosomal Location16249280-16311926 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 16281831 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 362 (Y362*)
Ref Sequence ENSEMBL: ENSMUSP00000152998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022310] [ENSMUST00000223973] [ENSMUST00000224656]
Predicted Effect probably null
Transcript: ENSMUST00000022310
AA Change: Y362*
SMART Domains Protein: ENSMUSP00000022310
Gene: ENSMUSG00000021785
AA Change: Y362*

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 noncoding transcript
Transcript: ENSMUST00000143947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153109
Predicted Effect probably null
Transcript: ENSMUST00000223973
AA Change: Y236*
Predicted Effect probably null
Transcript: ENSMUST00000224656
AA Change: Y362*
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,992,961 A841V probably benign Het
Alms1 A G 6: 85,599,973 probably benign Het
Arc A T 15: 74,671,984 L130Q probably damaging Het
Arhgap28 C T 17: 67,868,956 V383I probably damaging Het
Atf6 T C 1: 170,834,894 S266G probably benign Het
Cd59b A G 2: 104,084,560 E101G probably benign Het
Cdc26 T C 4: 62,395,014 K30R possibly damaging Het
Clns1a A G 7: 97,711,730 D103G probably null Het
Crispld2 C A 8: 120,031,098 A394E possibly damaging Het
Cyp51 A T 5: 4,104,195 L38H probably damaging Het
Dnah7a T G 1: 53,686,614 probably benign Het
Fbxw2 T C 2: 34,822,663 R129G probably damaging Het
Fgd3 T C 13: 49,285,818 Q234R probably damaging Het
Gdpgp1 A G 7: 80,239,099 T293A probably damaging Het
Gm4951 T A 18: 60,246,071 I226N probably damaging Het
Hspa12a T G 19: 58,822,061 probably null Het
Ier5l G T 2: 30,473,055 D319E possibly damaging Het
Ikzf1 T C 11: 11,700,226 V3A probably benign Het
Itga2 T C 13: 114,880,632 N180D probably damaging Het
Lipt1 T C 1: 37,875,069 S69P probably damaging Het
Lvrn A G 18: 46,889,498 I734V probably benign Het
Man2c1 A G 9: 57,141,830 T871A probably benign Het
Ndufs1 A T 1: 63,164,737 C129S probably damaging Het
Neb A T 2: 52,290,819 F1232I probably damaging Het
Olfr92 A T 17: 37,111,521 S154T probably benign Het
Olfr993 A T 2: 85,414,379 S167T probably benign Het
Patj A G 4: 98,465,140 D640G probably null Het
Plxnd1 A T 6: 115,962,357 M1502K probably damaging Het
Sccpdh T C 1: 179,686,673 V429A possibly damaging Het
Slc25a48 T C 13: 56,470,459 V303A probably benign Het
Sult2a6 T C 7: 14,225,972 D212G probably benign Het
Tep1 A T 14: 50,840,703 probably benign Het
Tmem65 A G 15: 58,784,902 probably benign Het
Togaram2 T C 17: 71,695,745 probably null Het
Trim36 T C 18: 46,167,508 T687A probably benign Het
Unc13b T A 4: 43,239,351 D3471E probably damaging Het
Urgcp T C 11: 5,717,238 probably null Het
Zfhx4 A T 3: 5,401,171 I2155F probably damaging Het
Zfp831 T A 2: 174,645,266 V578E probably benign Het
Other mutations in Ngly1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01807:Ngly1 APN 14 16290873 missense probably benign 0.14
IGL02199:Ngly1 APN 14 16290844 missense probably damaging 0.96
IGL02809:Ngly1 APN 14 16281791 missense probably damaging 1.00
IGL02865:Ngly1 APN 14 16290939 intron probably benign
IGL03290:Ngly1 APN 14 16281866 missense probably damaging 0.98
IGL02799:Ngly1 UTSW 14 16260636 missense probably benign
R0518:Ngly1 UTSW 14 16290774 nonsense probably null
R0521:Ngly1 UTSW 14 16290774 nonsense probably null
R1612:Ngly1 UTSW 14 16290867 nonsense probably null
R1851:Ngly1 UTSW 14 16260585 missense probably damaging 1.00
R2060:Ngly1 UTSW 14 16277877 missense possibly damaging 0.72
R2424:Ngly1 UTSW 14 16290721 splice site probably null
R2696:Ngly1 UTSW 14 16283439 missense possibly damaging 0.52
R3834:Ngly1 UTSW 14 16290766 intron probably benign
R3883:Ngly1 UTSW 14 16270574 missense probably damaging 1.00
R4700:Ngly1 UTSW 14 16281809 missense probably benign 0.01
R5160:Ngly1 UTSW 14 16281751 missense probably damaging 0.98
R5555:Ngly1 UTSW 14 16270508 nonsense probably null
R5603:Ngly1 UTSW 14 16260762 missense probably benign 0.01
R5764:Ngly1 UTSW 14 16260799 missense probably benign
R5980:Ngly1 UTSW 14 16270509 missense possibly damaging 0.85
R6066:Ngly1 UTSW 14 16294634 missense probably benign 0.01
R6887:Ngly1 UTSW 14 16281836 missense probably benign 0.02
R6943:Ngly1 UTSW 14 16283467 missense probably damaging 1.00
R7101:Ngly1 UTSW 14 16283445 missense probably damaging 1.00
R7447:Ngly1 UTSW 14 16290844 missense probably damaging 1.00
R7748:Ngly1 UTSW 14 16290820 missense possibly damaging 0.62
R8123:Ngly1 UTSW 14 16260799 missense probably benign
X0053:Ngly1 UTSW 14 16254743 missense probably damaging 1.00
Posted On2016-08-02