Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03209:Ngly1'

413227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ngly1

Ensembl Gene

ENSMUSG00000021785

Gene Name

N-glycanase 1

Synonyms

Png1, PNGase, 1110002C09Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.836) question?

Stock #

IGL03209

Quality Score

Status

Chromosome

Chromosomal Location

16249280-16311926 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 16281831 bp

Zygosity

Heterozygous

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*

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 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2016-08-02