Mutagenetix > Incidental Mutation

Incidental Mutation 'R5688:Engase'

443520

Institutional Source

Beutler Lab

Gene Symbol

Engase

Ensembl Gene

ENSMUSG00000033857

Gene Name

endo-beta-N-acetylglucosaminidase

Synonyms

D230014K01Rik

MMRRC Submission

043321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118367655-118380035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 118378146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 312 (E312A)

Ref Sequence

ENSEMBL: ENSMUSP00000125886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017576] [ENSMUST00000043447] [ENSMUST00000069343] [ENSMUST00000103023] [ENSMUST00000106278] [ENSMUST00000117731] [ENSMUST00000120061] [ENSMUST00000168689] [ENSMUST00000135383] [ENSMUST00000139917] [ENSMUST00000171769] [ENSMUST00000166995]

AlphaFold

Q8BX80

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

probably benign
Transcript: ENSMUST00000120061

SMART Domains

Protein: ENSMUSP00000113987
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	6.1e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168689
AA Change: E312A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125886
Gene: ENSMUSG00000033857
AA Change: E312A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135383
AA Change: E673A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117538
Gene: ENSMUSG00000033857
AA Change: E673A

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

noncoding transcript
Transcript: ENSMUST00000168785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139813

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: 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

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,315,920 (GRCm39)	A222V	probably benign	Het
Ahnak	A	G	19: 8,979,883 (GRCm39)	D389G	probably benign	Het
Aldh1l2	A	T	10: 83,337,789 (GRCm39)	S559T	possibly damaging	Het
Alms1	T	A	6: 85,576,877 (GRCm39)	N144K	possibly damaging	Het
Anp32b	T	A	4: 46,469,868 (GRCm39)		probably null	Het
Atf7	C	T	15: 102,459,944 (GRCm39)	R57H	probably damaging	Het
Atp10b	A	T	11: 43,092,000 (GRCm39)	H345L	probably benign	Het
Cacna2d1	A	T	5: 16,563,950 (GRCm39)	I859F	probably damaging	Het
Calcr	T	A	6: 3,714,730 (GRCm39)		probably null	Het
Cd248	A	G	19: 5,119,963 (GRCm39)	T604A	probably benign	Het
Cemip	C	T	7: 83,610,849 (GRCm39)	V702M	probably damaging	Het
Cep295	G	T	9: 15,243,282 (GRCm39)	Q469K	probably damaging	Het
Cntn5	A	G	9: 9,748,427 (GRCm39)	W485R	probably damaging	Het
Cpe	T	C	8: 65,062,189 (GRCm39)	N289S	possibly damaging	Het
Cyp2j11	G	A	4: 96,233,358 (GRCm39)	R113C	probably damaging	Het
Dcp1b	T	C	6: 119,194,872 (GRCm39)	S531P	probably benign	Het
Defb7	T	G	8: 19,545,167 (GRCm39)	L15R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Ednrb	T	C	14: 104,060,831 (GRCm39)	D198G	probably damaging	Het
Evl	G	A	12: 108,639,612 (GRCm39)		probably null	Het
Faf1	C	A	4: 109,652,010 (GRCm39)	Q234K	probably damaging	Het
Garre1	T	A	7: 33,953,416 (GRCm39)	T449S	possibly damaging	Het
Garre1	T	G	7: 33,984,134 (GRCm39)	D163A	probably damaging	Het
Gm5460	C	A	14: 33,767,752 (GRCm39)	N453K	possibly damaging	Het
Gm7356	T	A	17: 14,220,869 (GRCm39)	I387F	possibly damaging	Het
H1f2	A	G	13: 23,923,148 (GRCm39)	K106R	probably damaging	Het
Hagh	T	C	17: 25,069,568 (GRCm39)	M1T	probably null	Het
Hars1	A	T	18: 36,905,369 (GRCm39)	V155E	probably damaging	Het
Lca5	C	A	9: 83,280,619 (GRCm39)	D394Y	probably benign	Het
Lmtk3	T	C	7: 45,440,834 (GRCm39)	L280P	probably damaging	Het
Lrit1	C	T	14: 36,784,385 (GRCm39)	A571V	possibly damaging	Het
Map4k2	C	A	19: 6,396,836 (GRCm39)	P584H	probably damaging	Het
Mgst1	T	C	6: 138,118,798 (GRCm39)		probably benign	Het
Mtrex	A	T	13: 113,009,590 (GRCm39)	C936*	probably null	Het
Neb	C	T	2: 52,086,339 (GRCm39)	V5245I	probably damaging	Het
Oas3	T	C	5: 120,896,867 (GRCm39)	N918S	probably benign	Het
Or4c106	C	T	2: 88,683,023 (GRCm39)	T243I	probably benign	Het
Or5d16	T	A	2: 87,773,552 (GRCm39)	Q140L	probably benign	Het
Or8b8	A	C	9: 37,809,359 (GRCm39)	I220L	possibly damaging	Het
Ovch2	A	G	7: 107,393,201 (GRCm39)	L224P	probably damaging	Het
Patj	A	T	4: 98,409,047 (GRCm39)	K34*	probably null	Het
Pcf11	T	A	7: 92,308,016 (GRCm39)	R717S	possibly damaging	Het
Plcb1	A	T	2: 135,177,400 (GRCm39)	E577D	probably benign	Het
Plxnb2	T	C	15: 89,042,899 (GRCm39)	K1497E	probably damaging	Het
Pyroxd1	C	A	6: 142,299,266 (GRCm39)	L141I	probably damaging	Het
Rhobtb3	G	T	13: 76,020,537 (GRCm39)	N588K	probably benign	Het
Rnasel	G	A	1: 153,629,452 (GRCm39)		probably benign	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shank1	A	T	7: 44,003,911 (GRCm39)	I1868F	possibly damaging	Het
Slc28a3	A	T	13: 58,706,463 (GRCm39)	S593T	probably damaging	Het
Slc29a4	T	C	5: 142,699,853 (GRCm39)	I168T	possibly damaging	Het
Slc35f5	C	T	1: 125,518,775 (GRCm39)	P502L	probably benign	Het
Slco6d1	T	C	1: 98,408,493 (GRCm39)	I463T	probably damaging	Het
Slk	A	G	19: 47,608,451 (GRCm39)	D468G	probably benign	Het
Spata31d1d	G	T	13: 59,874,322 (GRCm39)	P1071Q	probably damaging	Het
Tert	G	A	13: 73,787,275 (GRCm39)	V754I	probably damaging	Het
Thada	T	C	17: 84,759,155 (GRCm39)	T235A	probably benign	Het
Ttn	T	C	2: 76,564,472 (GRCm39)	D28555G	probably damaging	Het
Ttn	T	A	2: 76,710,328 (GRCm39)		probably null	Het
Ubqln4	T	C	3: 88,472,575 (GRCm39)	L464P	probably damaging	Het
Unc45b	A	T	11: 82,813,643 (GRCm39)	N350I	possibly damaging	Het
Vmn2r65	T	C	7: 84,589,900 (GRCm39)	D672G	probably benign	Het
Zfp947	T	A	17: 22,365,066 (GRCm39)	I203L	probably benign	Het
Zfp964	T	A	8: 70,116,766 (GRCm39)	H454Q	probably benign	Het

Other mutations in Engase

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Engase	APN	11	118,373,796 (GRCm39)	missense	possibly damaging	0.91
IGL00963:Engase	APN	11	118,373,824 (GRCm39)	missense	probably damaging	1.00
IGL02652:Engase	APN	11	118,369,776 (GRCm39)	missense	probably damaging	0.99
R0135:Engase	UTSW	11	118,375,304 (GRCm39)	missense	possibly damaging	0.68
R1337:Engase	UTSW	11	118,373,400 (GRCm39)	missense	possibly damaging	0.46
R1435:Engase	UTSW	11	118,375,727 (GRCm39)	missense	probably damaging	1.00
R1515:Engase	UTSW	11	118,377,966 (GRCm39)	missense	possibly damaging	0.53
R1889:Engase	UTSW	11	118,369,759 (GRCm39)	missense	probably damaging	1.00
R1939:Engase	UTSW	11	118,370,012 (GRCm39)	missense	probably damaging	1.00
R4628:Engase	UTSW	11	118,375,731 (GRCm39)	missense	probably damaging	1.00
R4730:Engase	UTSW	11	118,373,748 (GRCm39)	missense	probably damaging	1.00
R4762:Engase	UTSW	11	118,377,920 (GRCm39)	missense	possibly damaging	0.89
R4775:Engase	UTSW	11	118,373,497 (GRCm39)	missense	probably benign	0.22
R5155:Engase	UTSW	11	118,372,107 (GRCm39)	missense	probably benign	0.25
R5271:Engase	UTSW	11	118,372,223 (GRCm39)	missense	probably damaging	0.99
R6659:Engase	UTSW	11	118,372,142 (GRCm39)	missense	probably benign	0.07
R7104:Engase	UTSW	11	118,372,121 (GRCm39)	missense	probably damaging	0.98
R7233:Engase	UTSW	11	118,373,827 (GRCm39)	missense	probably damaging	1.00
R7961:Engase	UTSW	11	118,377,686 (GRCm39)	missense	possibly damaging	0.67
R8047:Engase	UTSW	11	118,377,282 (GRCm39)	missense	probably benign
Z1177:Engase	UTSW	11	118,376,583 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CAGATACGATGGCTTCCTCTG -3'
(R):5'- AACCTCGAGTCTTGAGGTGG -3'

Sequencing Primer
(F):5'- AGATACGATGGCTTCCTCTGATCAC -3'
(R):5'- AGGAGACGCTGTGCTCTG -3'

Posted On

2016-11-09