Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02799:Ngly1'

392303

Institutional Source

Beutler Lab

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: 0.771) question?

Stock #

IGL02799 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

16249280-16311926 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16260636 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 107 (I107L)

Ref Sequence

ENSEMBL: ENSMUSP00000152998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022310] [ENSMUST00000223973] [ENSMUST00000224154] [ENSMUST00000224656]

Predicted Effect

probably benign
Transcript: ENSMUST00000022310
AA Change: I107L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022310
Gene: ENSMUSG00000021785
AA Change: I107L

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: ENSMUST00000153109

Predicted Effect

probably benign
Transcript: ENSMUST00000223973
AA Change: I6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224154

Predicted Effect

probably benign
Transcript: ENSMUST00000224656
AA Change: I107L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226089

Meta Mutation Damage Score

0.0585

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (67/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	G	6: 86,106,252	N444S	possibly damaging	Het
Atp2b2	A	T	6: 113,762,852	Y823*	probably null	Het
Atp2c1	A	C	9: 105,413,043		probably benign	Het
Capns1	A	T	7: 30,192,219	D133E	probably benign	Het
Cast	A	G	13: 74,736,752	V361A	probably damaging	Het
Cd69	G	A	6: 129,268,260		probably benign	Het
Celsr2	T	A	3: 108,414,062	D478V	probably damaging	Het
Cenpf	T	C	1: 189,659,652	E661G	probably damaging	Het
Chrna1	A	G	2: 73,574,641		probably benign	Het
Clec5a	C	A	6: 40,578,049	V138F	probably damaging	Het
Ctsj	T	A	13: 61,003,820	I95F	probably benign	Het
Dcaf1	T	A	9: 106,857,940	S696T	probably benign	Het
Dcp1a	T	C	14: 30,519,679		probably null	Het
Dnajc14	C	T	10: 128,806,856	P216S	possibly damaging	Het
Dst	T	C	1: 34,179,849	I1790T	possibly damaging	Het
Ehmt1	A	T	2: 24,815,806	H789Q	probably damaging	Het
Exoc7	A	T	11: 116,301,181	L188Q	probably damaging	Het
Faap100	A	G	11: 120,370,735	L823P	probably damaging	Het
Fdxacb1	T	A	9: 50,772,596	S620T	probably benign	Het
Fhl2	C	T	1: 43,128,402	R177Q	probably benign	Het
Gars	C	A	6: 55,063,099	T337K	probably damaging	Het
Ggta1	A	T	2: 35,422,199	F56I	probably damaging	Het
Gm10715	A	C	9: 3,038,062		probably benign	Het
Gpr108	T	A	17: 57,237,482	I343F	probably damaging	Het
Gpr12	T	A	5: 146,583,819	I98F	possibly damaging	Het
Hk2	A	G	6: 82,760,238	L3P	probably damaging	Het
Imp4	C	A	1: 34,440,177		probably benign	Het
Insrr	G	A	3: 87,813,581	V1049M	probably damaging	Het
Klhl24	T	C	16: 20,114,581	V314A	probably damaging	Het
Krt32	A	T	11: 100,087,907	V107D	possibly damaging	Het
Krtap5-1	G	A	7: 142,296,505	Q189*	probably null	Het
Lrrc9	A	G	12: 72,506,404	E1360G	probably damaging	Het
Mdc1	G	T	17: 35,846,191	L163F	possibly damaging	Het
Mroh1	T	G	15: 76,392,461		probably null	Het
Myh8	A	G	11: 67,301,592		probably benign	Het
Ndufab1	A	T	7: 122,093,726		probably benign	Het
Nek3	A	G	8: 22,158,719		probably benign	Het
Nkain4	A	T	2: 180,935,935		probably null	Het
Nsd2	T	A	5: 33,864,788		probably benign	Het
Olfr1094	A	T	2: 86,828,956	H68L	probably damaging	Het
Olfr513	A	T	7: 108,755,623	M256L	probably benign	Het
Olfr732	A	G	14: 50,281,344	I303T	probably benign	Het
Olfr857	T	A	9: 19,713,018	Y64N	probably damaging	Het
Olfr874	T	A	9: 37,746,509	I125N	probably damaging	Het
Pcnt	G	A	10: 76,412,583	Q901*	probably null	Het
Pctp	C	A	11: 89,991,087	W81C	probably damaging	Het
Pik3r5	A	T	11: 68,495,947	I801F	probably damaging	Het
Ptprj	A	T	2: 90,469,598	N193K	probably benign	Het
Rab11fip1	A	T	8: 27,152,760	D670E	probably benign	Het
Racgap1	T	C	15: 99,632,747	K201E	probably benign	Het
Ranbp2	T	C	10: 58,480,264	F2269L	probably damaging	Het
Rint1	C	A	5: 23,819,480	A760D	possibly damaging	Het
Ryr2	G	A	13: 11,665,962	P3166S	probably damaging	Het
Snap29	A	G	16: 17,422,503	N158D	probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
St6galnac1	G	T	11: 116,766,647		probably benign	Het
Strc	G	A	2: 121,379,236	T202I	probably damaging	Het
Stxbp4	A	G	11: 90,494,600		probably null	Het
Syne1	A	T	10: 5,359,059	M650K	probably damaging	Het
Tbc1d2b	C	T	9: 90,223,434		probably benign	Het
Tcfl5	A	T	2: 180,638,626	I328N	possibly damaging	Het
Tenm2	A	G	11: 36,273,408	Y337H	probably damaging	Het
Tgfbr2	T	C	9: 116,110,136	K233E	possibly damaging	Het
Tnk2	T	C	16: 32,665,881		probably benign	Het
Trbv13-2	A	G	6: 41,121,537		probably benign	Het
Usp6nl	T	A	2: 6,427,549		probably benign	Het
Vmn2r62	A	G	7: 42,787,972	S363P	possibly damaging	Het
Vnn3	T	C	10: 23,851,971	I93T	possibly damaging	Het
Ylpm1	A	G	12: 85,044,484	D1108G	probably damaging	Het
Zbtb17	G	A	4: 141,463,380	G170S	probably benign	Het
Zcchc11	T	C	4: 108,513,528	Y875H	probably benign	Het
Zfyve26	T	C	12: 79,273,310	E1087G	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
IGL03209:Ngly1	APN	14	16281831	nonsense	probably null
IGL03290:Ngly1	APN	14	16281866	missense	probably damaging	0.98
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	intron	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

Predicted Primers

PCR Primer
(F):5'- CCTGGATTACATCAAATATGCCAAG -3'
(R):5'- CACAGTACCATTGGAGCAGAG -3'

Sequencing Primer
(F):5'- AGTGAAGCAGACACTTCTCTGTC -3'
(R):5'- AGGGTAGGCTTGGCAGC -3'

Posted On

2016-06-09