Mutagenetix > Incidental Mutation

Incidental Mutation 'R6714:Edem2'

529240

Institutional Source

Beutler Lab

Gene Symbol

Edem2

Ensembl Gene

ENSMUSG00000038312

Gene Name

ER degradation enhancer, mannosidase alpha-like 2

Synonyms

9530090G24Rik

MMRRC Submission

044832-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R6714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155543597-155571395 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 155570809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040833]

AlphaFold

Q8BJT9

Predicted Effect

probably null
Transcript: ENSMUST00000040833

SMART Domains

Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Glyco_hydro_47	42	482	8.3e-118	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (48/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC061237	A	T	14: 44,741,639 (GRCm39)	R127S	possibly damaging	Het
Bub1	C	A	2: 127,656,652 (GRCm39)	M463I	probably benign	Het
Cdh23	T	C	10: 60,167,609 (GRCm39)	I1794V	possibly damaging	Het
Clspn	C	T	4: 126,459,561 (GRCm39)	T320M	probably damaging	Het
Coch	A	C	12: 51,649,520 (GRCm39)	D277A	probably damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Dnah7c	A	T	1: 46,779,966 (GRCm39)	I3223F	probably damaging	Het
E2f6	G	A	12: 16,869,003 (GRCm39)	V109I	probably damaging	Het
Efcab8	A	G	2: 153,631,130 (GRCm39)	K187E	probably damaging	Het
Fam184a	T	C	10: 53,574,979 (GRCm39)	N210S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fsip2	A	G	2: 82,809,878 (GRCm39)	I2066V	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gpc5	C	T	14: 115,789,715 (GRCm39)	Q530*	probably null	Het
Hmcn1	A	T	1: 150,579,926 (GRCm39)	I1937K	probably damaging	Het
Hpx	G	A	7: 105,244,302 (GRCm39)	R269C	probably damaging	Het
Ice1	T	C	13: 70,763,382 (GRCm39)		probably null	Het
Kbtbd4	A	T	2: 90,736,183 (GRCm39)		probably benign	Het
Ldlrad3	T	C	2: 101,783,297 (GRCm39)	T310A	probably benign	Het
Lrp4	G	A	2: 91,306,710 (GRCm39)	S341N	possibly damaging	Het
Map3k3	T	C	11: 106,005,048 (GRCm39)	V69A	possibly damaging	Het
Myh8	T	C	11: 67,197,775 (GRCm39)	Y1881H	probably damaging	Het
Nectin4	A	T	1: 171,198,218 (GRCm39)		probably benign	Het
Nhsl1	G	T	10: 18,400,459 (GRCm39)	V562L	possibly damaging	Het
Or4k5	A	T	14: 50,385,671 (GRCm39)	I220K	possibly damaging	Het
Or6c205	T	A	10: 129,086,809 (GRCm39)	N135K	possibly damaging	Het
Pcdhga7	T	A	18: 37,850,330 (GRCm39)	V779E	probably benign	Het
Peg12	T	A	7: 62,113,317 (GRCm39)	H260L	unknown	Het
Qrfpr	A	T	3: 36,234,405 (GRCm39)	M312K	possibly damaging	Het
Rbl2	T	A	8: 91,833,415 (GRCm39)	I730N	possibly damaging	Het
Rbm39	G	C	2: 156,003,538 (GRCm39)	L281V	possibly damaging	Het
Setd1b	A	G	5: 123,295,654 (GRCm39)	E1074G	unknown	Het
Sfr1	A	G	19: 47,723,405 (GRCm39)	D303G	probably damaging	Het
Slc7a12	T	C	3: 14,546,380 (GRCm39)	V175A	probably benign	Het
Slc8a1	A	T	17: 81,715,678 (GRCm39)	L785Q	probably damaging	Het
Spdl1	T	A	11: 34,713,830 (GRCm39)		probably null	Het
Spg11	T	C	2: 121,926,212 (GRCm39)	I694M	probably damaging	Het
Tasor2	A	T	13: 3,644,189 (GRCm39)	F143L	probably benign	Het
Trpc1	A	T	9: 95,605,326 (GRCm39)	L111Q	probably damaging	Het
Tti1	A	G	2: 157,848,971 (GRCm39)	V756A	possibly damaging	Het
Unc93a2	T	G	17: 7,643,937 (GRCm39)	E124A	probably benign	Het
Usp32	A	T	11: 84,917,696 (GRCm39)	I777N	probably damaging	Het
Zbtb8b	C	T	4: 129,326,776 (GRCm39)	E97K	probably damaging	Het
Zfhx4	A	G	3: 5,306,897 (GRCm39)	D41G	probably damaging	Het
Zfp493	A	T	13: 67,934,499 (GRCm39)	S151C	probably benign	Het
Zfp503	T	C	14: 22,035,825 (GRCm39)	T364A	probably benign	Het
Zfp507	T	C	7: 35,487,152 (GRCm39)	K772R	probably damaging	Het
Zfp804b	T	A	5: 6,819,239 (GRCm39)	M1275L	probably benign	Het
Zfp811	G	A	17: 33,016,736 (GRCm39)	H434Y	probably damaging	Het

Other mutations in Edem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Edem2	APN	2	155,550,948 (GRCm39)	missense	probably benign	0.01
IGL01417:Edem2	APN	2	155,570,898 (GRCm39)	missense	probably damaging	1.00
IGL02043:Edem2	APN	2	155,547,661 (GRCm39)	missense	probably damaging	1.00
IGL02403:Edem2	APN	2	155,550,983 (GRCm39)	missense	possibly damaging	0.81
R0488:Edem2	UTSW	2	155,558,043 (GRCm39)	missense	probably damaging	1.00
R1312:Edem2	UTSW	2	155,544,505 (GRCm39)	missense	probably damaging	0.99
R1547:Edem2	UTSW	2	155,564,436 (GRCm39)	missense	probably damaging	1.00
R2092:Edem2	UTSW	2	155,550,969 (GRCm39)	missense	probably benign	0.03
R2114:Edem2	UTSW	2	155,544,479 (GRCm39)	missense	probably damaging	1.00
R2250:Edem2	UTSW	2	155,552,893 (GRCm39)	splice site	probably null
R2268:Edem2	UTSW	2	155,544,137 (GRCm39)	missense	probably benign
R2287:Edem2	UTSW	2	155,555,279 (GRCm39)	missense	probably benign
R2919:Edem2	UTSW	2	155,550,947 (GRCm39)	missense	probably damaging	1.00
R4730:Edem2	UTSW	2	155,547,618 (GRCm39)	missense	possibly damaging	0.96
R4806:Edem2	UTSW	2	155,570,913 (GRCm39)	missense	possibly damaging	0.56
R5574:Edem2	UTSW	2	155,558,075 (GRCm39)	missense	probably damaging	1.00
R6913:Edem2	UTSW	2	155,568,594 (GRCm39)	missense	probably damaging	1.00
R7016:Edem2	UTSW	2	155,557,992 (GRCm39)	missense	possibly damaging	0.77
R7234:Edem2	UTSW	2	155,552,886 (GRCm39)	missense	probably benign	0.19
R8063:Edem2	UTSW	2	155,544,376 (GRCm39)	missense	probably benign	0.00
R9072:Edem2	UTSW	2	155,571,212 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCTGCCAAGTTAAGCCAAG -3'
(R):5'- TCGGCAGAAATCATTTTGTGGTTC -3'

Sequencing Primer
(F):5'- AGGTCGGAAACTTTCCAC -3'
(R):5'- CAGAAATCATTTTGTGGTTCCCATTC -3'

Posted On

2018-07-24