Mutagenetix > Incidental Mutation

Incidental Mutation 'R7101:Ngly1'

550852

Institutional Source

Beutler Lab

Gene Symbol

Ngly1

Ensembl Gene

ENSMUSG00000021785

Gene Name

N-glycanase 1

Synonyms

PNGase, 1110002C09Rik, Png1

MMRRC Submission

045193-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R7101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6157837-6220449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 16283445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 408 (R408Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022310] [ENSMUST00000223973] [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 damaging
Transcript: ENSMUST00000022310
AA Change: R408Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022310
Gene: ENSMUSG00000021785
AA Change: R408Q

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: ENSMUST00000223973

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224656
AA Change: R408Q

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,438 (GRCm39)	D568G	probably benign	Het
Angpt1	T	C	15: 42,386,965 (GRCm39)	I130V	probably benign	Het
Ankrd11	G	T	8: 123,622,194 (GRCm39)	Q553K	probably benign	Het
Ankrd42	A	T	7: 92,280,752 (GRCm39)	H59Q	possibly damaging	Het
Ankrd52	C	T	10: 128,218,249 (GRCm39)	R318C	probably damaging	Het
Arrdc5	G	A	17: 56,601,522 (GRCm39)	T201M	probably damaging	Het
Atxn1l	A	G	8: 110,459,132 (GRCm39)	S377P	probably benign	Het
Baz2a	T	C	10: 127,957,056 (GRCm39)	F936S	possibly damaging	Het
Bicc1	T	C	10: 70,766,483 (GRCm39)	D913G	probably damaging	Het
Blnk	T	A	19: 40,961,082 (GRCm39)	M21L	probably benign	Het
Cabin1	T	C	10: 75,587,401 (GRCm39)	H132R	probably benign	Het
Ccdc154	A	G	17: 25,382,442 (GRCm39)	H88R	probably benign	Het
Cfap20dc	G	T	14: 8,511,171 (GRCm38)	S414R	possibly damaging	Het
Clic5	G	T	17: 44,586,179 (GRCm39)	A223S	probably benign	Het
Col28a1	T	A	6: 8,014,795 (GRCm39)	Y870F	possibly damaging	Het
Dhx37	G	A	5: 125,502,006 (GRCm39)	Q497*	probably null	Het
Dnah11	T	C	12: 118,031,880 (GRCm39)	T1763A	probably benign	Het
Dnajc13	T	C	9: 104,042,221 (GRCm39)	R2005G	possibly damaging	Het
Dop1a	G	A	9: 86,389,722 (GRCm39)	G541S	probably benign	Het
Drosha	C	T	15: 12,865,153 (GRCm39)	T627M	probably damaging	Het
Ephb3	C	T	16: 21,037,268 (GRCm39)	H455Y	possibly damaging	Het
Eri1	A	C	8: 35,949,777 (GRCm39)	C127G	probably damaging	Het
Faf1	A	T	4: 109,783,153 (GRCm39)	E548D	probably benign	Het
Gm3285	C	A	10: 77,698,194 (GRCm39)	C114*	probably null	Het
Gm9736	C	T	10: 77,587,167 (GRCm39)	V8I	unknown	Het
Gnptab	A	T	10: 88,276,174 (GRCm39)	M1154L	probably benign	Het
Grin1	G	A	2: 25,186,647 (GRCm39)	T770M	probably damaging	Het
Haus1	A	G	18: 77,854,570 (GRCm39)	S67P	possibly damaging	Het
Homer1	C	A	13: 93,492,562 (GRCm39)	Q184K	probably benign	Het
Hook2	A	G	8: 85,723,680 (GRCm39)	T401A	probably benign	Het
Il6st	G	A	13: 112,631,907 (GRCm39)		probably null	Het
Kcnh8	A	T	17: 53,212,038 (GRCm39)	D612V	probably damaging	Het
Ltbr	C	G	6: 125,289,763 (GRCm39)	E144Q	probably benign	Het
Mcf2l	G	T	8: 13,063,579 (GRCm39)	R961L	possibly damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo1b	G	T	1: 51,797,160 (GRCm39)	Q961K	probably benign	Het
Myo1h	C	A	5: 114,480,258 (GRCm39)	T531N		Het
Nup133	T	C	8: 124,632,966 (GRCm39)	E1055G	possibly damaging	Het
Nutm2	A	G	13: 50,626,934 (GRCm39)	K363R	probably benign	Het
Obox8	A	T	7: 14,066,752 (GRCm39)	Y97*	probably null	Het
Odc1	A	G	12: 17,597,319 (GRCm39)	D7G	probably benign	Het
Ogfod2	C	T	5: 124,252,558 (GRCm39)	T182I	unknown	Het
Or2t49	A	G	11: 58,393,379 (GRCm39)	M7T	probably benign	Het
Or4c111	A	T	2: 88,844,324 (GRCm39)	V28E	possibly damaging	Het
Or8b12b	T	C	9: 37,684,287 (GRCm39)	S111P	probably damaging	Het
Or8b46	G	A	9: 38,450,966 (GRCm39)	M258I	probably benign	Het
Parp4	A	G	14: 56,827,430 (GRCm39)	D188G	probably benign	Het
Phactr2	T	C	10: 13,122,922 (GRCm39)	E400G	probably benign	Het
Phlpp1	G	A	1: 106,100,397 (GRCm39)	V222M	possibly damaging	Het
Ppp1r16b	T	C	2: 158,603,683 (GRCm39)	V536A	probably damaging	Het
Prex2	T	C	1: 11,223,833 (GRCm39)	V719A	possibly damaging	Het
Prpf8	C	T	11: 75,381,226 (GRCm39)	A242V	possibly damaging	Het
Prr14l	A	G	5: 32,986,771 (GRCm39)	L908P	probably damaging	Het
Prrc2b	A	G	2: 32,117,005 (GRCm39)	N2146D	possibly damaging	Het
Rtkn	T	C	6: 83,126,993 (GRCm39)	V333A	possibly damaging	Het
Samd8	T	C	14: 21,825,442 (GRCm39)	Y196H	probably benign	Het
Six5	A	G	7: 18,828,784 (GRCm39)	T75A	probably benign	Het
Slc35a4	T	A	18: 36,814,591 (GRCm39)	L42H	probably damaging	Het
Svs3a	A	T	2: 164,131,933 (GRCm39)	D168V	probably damaging	Het
Themis	T	A	10: 28,637,422 (GRCm39)	Y175*	probably null	Het
Tspan33	G	T	6: 29,716,783 (GRCm39)	R180L	probably benign	Het
Ttc28	C	T	5: 111,232,958 (GRCm39)	S145F	probably damaging	Het
Txn2	G	A	15: 77,810,878 (GRCm39)	T102I	unknown	Het
Usp34	T	A	11: 23,376,183 (GRCm39)	V1908E		Het
Vmn2r101	A	G	17: 19,809,350 (GRCm39)	I160V	probably null	Het
Vmn2r104	A	T	17: 20,250,358 (GRCm39)	C638S	possibly damaging	Het
Wdfy4	C	T	14: 32,682,777 (GRCm39)	R3136Q		Het
Zan	C	A	5: 137,396,552 (GRCm39)	A4335S	unknown	Het
Zfp180	G	T	7: 23,803,958 (GRCm39)	V126F	probably benign	Het
Zfp429	T	A	13: 67,538,931 (GRCm39)	D171V	possibly damaging	Het
Zfp638	T	C	6: 83,931,708 (GRCm39)	I798T	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
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
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'- ATTGAACAATACCCTCAACTCTGG -3'
(R):5'- AAGGTGAATCTGGGGATACTTG -3'

Sequencing Primer
(F):5'- GTAAGAGTTCCTTGCATTGTAGC -3'
(R):5'- CTTGTGGGGTGGTAAATATCAAAATG -3'

Posted On

2019-05-15