Mutagenetix > Incidental Mutations

Incidental Mutation 'R7961:Engase'

650128

Institutional Source

Beutler Lab

Gene Symbol

Engase

Ensembl Gene

ENSMUSG00000033857

Gene Name

endo-beta-N-acetylglucosaminidase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118476829-118489209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118486860 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 571 (D571G)

Ref Sequence

ENSEMBL: ENSMUSP00000117538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017576] [ENSMUST00000043447] [ENSMUST00000069343] [ENSMUST00000103023] [ENSMUST00000106278] [ENSMUST00000117731] [ENSMUST00000135383] [ENSMUST00000139917] [ENSMUST00000166995] [ENSMUST00000168689] [ENSMUST00000171769]

Predicted Effect

probably benign
Transcript: ENSMUST00000017576

SMART Domains

Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	171	1.01e-24	SMART
Pfam:Fox-1_C	208	269	1e-22	PFAM
Pfam:Fox-1_C	279	345	3.9e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043447

Predicted Effect

probably benign
Transcript: ENSMUST00000069343

SMART Domains

Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	165	8.3e-2	SMART
Pfam:Fox-1_C	176	229	4.1e-15	PFAM
Pfam:Fox-1_C	226	314	4.8e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103023

SMART Domains

Protein: ENSMUSP00000099312
Gene: ENSMUSG00000025576

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	171	1.01e-24	SMART
Pfam:Fox-1_C	207	298	4.2e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106278

SMART Domains

Protein: ENSMUSP00000101885
Gene: ENSMUSG00000025576

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	171	1.01e-24	SMART
Pfam:Fox-1_C	207	298	4.2e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117731

SMART Domains

Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	171	1.01e-24	SMART
Pfam:Fox-1_C	207	260	3.5e-15	PFAM
Pfam:Fox-1_C	257	345	4.3e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135383
AA Change: D571G

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117538
Gene: ENSMUSG00000033857
AA Change: D571G

Domain	Start	End	E-Value	Type
low complexity region	30	40	N/A	INTRINSIC
low complexity region	102	120	N/A	INTRINSIC
Pfam:Glyco_hydro_85	127	404	2.6e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139917

SMART Domains

Protein: ENSMUSP00000129698
Gene: ENSMUSG00000033857

Domain	Start	End	E-Value	Type
low complexity region	30	40	N/A	INTRINSIC
low complexity region	79	92	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166995

SMART Domains

Protein: ENSMUSP00000127862
Gene: ENSMUSG00000033857

Domain	Start	End	E-Value	Type
low complexity region	30	40	N/A	INTRINSIC
low complexity region	102	120	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168689
AA Change: D210G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125886
Gene: ENSMUSG00000033857
AA Change: D210G

Domain	Start	End	E-Value	Type
PDB:3FHA\|D	13	143	1e-5	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000171769

SMART Domains

Protein: ENSMUSP00000132734
Gene: ENSMUSG00000033857

Domain	Start	End	E-Value	Type
low complexity region	30	40	N/A	INTRINSIC
low complexity region	79	92	N/A	INTRINSIC

Meta Mutation Damage Score

0.2152

Coding Region Coverage

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

Validation Efficiency

94% (44/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozgyous for knock-out alleles of this gene and Ngly1 exhibit restored endoplasmic reticulum (ER)-associated degradation (ERAD) process compared with MEFs lacking only Ngly1. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,828,870	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,631,478	R288W	probably damaging	Het
C87414	T	C	5: 93,636,684	D307G	probably damaging	Het
Ccng1	G	A	11: 40,751,269	H229Y	probably benign	Het
Cenpn	C	A	8: 116,937,237	T256N	probably benign	Het
Ciart	A	G	3: 95,881,317	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,661,458	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,178,295	A192T	probably benign	Het
Dmrt1	T	A	19: 25,545,881	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,610,908	V37A	possibly damaging	Het
Dock1	T	A	7: 134,745,057	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,136,258		probably null	Het
Gm45871	C	T	18: 90,591,759	H374Y	probably damaging	Het
Icam5	T	C	9: 21,038,755	V870A	possibly damaging	Het
Idh2	T	C	7: 80,098,253	H233R	probably benign	Het
Kcna5	A	G	6: 126,533,554	L537P	probably benign	Het
Krt71	T	C	15: 101,735,442	I454V	probably damaging	Het
Krtap5-4	C	T	7: 142,303,934	Q114*	probably null	Het
Loxl3	T	C	6: 83,050,809	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,511,379	T420I	probably damaging	Het
Mia2	T	A	12: 59,159,639		probably null	Het
Neurod4	A	T	10: 130,270,487	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,619,802		probably benign	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,453,328	D408V	probably benign	Het
Nubpl	T	A	12: 52,181,297	L168*	probably null	Het
Odf1	A	G	15: 38,226,596	I247V	unknown	Het
Olfr1170	C	A	2: 88,224,689	M114I	possibly damaging	Het
Olfr1260	A	G	2: 89,977,787	Q3R	probably benign	Het
Olfr1298	G	A	2: 111,645,937	S20F	probably damaging	Het
Pcsk1	T	C	13: 75,126,839	S516P	probably benign	Het
Pikfyve	A	G	1: 65,255,134	D1411G	probably damaging	Het
Polm	T	C	11: 5,830,155	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,419,065	S281T	probably benign	Het
Pspc1	G	A	14: 56,771,847	Q177*	probably null	Het
Rbm33	G	A	5: 28,394,608	G185R		Het
Satb2	A	G	1: 56,871,758	S243P	probably benign	Het
Serinc5	T	C	13: 92,661,191		probably null	Het
Sgsm1	T	C	5: 113,282,644	T292A	probably damaging	Het
Smad3	G	A	9: 63,650,282	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,363,570	V486I	probably damaging	Het
Tep1	A	G	14: 50,824,230	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,994,006	S122P	probably damaging	Het
Tnks2	T	A	19: 36,852,501	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,078,767	Q28P	probably damaging	Het
Trpm5	T	C	7: 143,080,369	E700G	probably benign	Het
Ubqln3	T	A	7: 104,142,590	I98L	probably benign	Het
Usp25	A	G	16: 77,059,262	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,265,193	V7A	probably benign	Het
Zfp60	G	A	7: 27,748,456	G183D	probably benign	Het

Other mutations in Engase

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Engase	APN	11	118482970	missense	possibly damaging	0.91
IGL00963:Engase	APN	11	118482998	missense	probably damaging	1.00
IGL02652:Engase	APN	11	118478950	missense	probably damaging	0.99
R0135:Engase	UTSW	11	118484478	missense	possibly damaging	0.68
R1337:Engase	UTSW	11	118482574	missense	possibly damaging	0.46
R1435:Engase	UTSW	11	118484901	missense	probably damaging	1.00
R1515:Engase	UTSW	11	118487140	missense	possibly damaging	0.53
R1889:Engase	UTSW	11	118478933	missense	probably damaging	1.00
R1939:Engase	UTSW	11	118479186	missense	probably damaging	1.00
R4628:Engase	UTSW	11	118484905	missense	probably damaging	1.00
R4730:Engase	UTSW	11	118482922	missense	probably damaging	1.00
R4762:Engase	UTSW	11	118487094	missense	possibly damaging	0.89
R4775:Engase	UTSW	11	118482671	missense	probably benign	0.22
R5155:Engase	UTSW	11	118481281	missense	probably benign	0.25
R5271:Engase	UTSW	11	118481397	missense	probably damaging	0.99
R5688:Engase	UTSW	11	118487320	missense	possibly damaging	0.91
R6659:Engase	UTSW	11	118481316	missense	probably benign	0.07
R7104:Engase	UTSW	11	118481295	missense	probably damaging	0.98
R7233:Engase	UTSW	11	118483001	missense	probably damaging	1.00
R8047:Engase	UTSW	11	118486456	missense	probably benign
Z1177:Engase	UTSW	11	118485757	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GGGGAACTTAGAGTCTGCAC -3'
(R):5'- GCCCAGGGATAAAGGACATC -3'

Sequencing Primer
(F):5'- CTTAGAGTCTGCACTGAGAAATCC -3'
(R):5'- GGATAAAGGACATCCCCTCAC -3'

Posted On

2020-09-15