Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02403:Edem2'

291957

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edem2

Ensembl Gene

ENSMUSG00000038312

Gene Name

ER degradation enhancer, mannosidase alpha-like 2

Synonyms

9530090G24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

IGL02403

Quality Score

Status

Chromosome

Chromosomal Location

155543597-155571395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155550983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 328 (D328G)

Ref Sequence

ENSEMBL: ENSMUSP00000041202 (fasta)

Gene Model

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

AlphaFold

Q8BJT9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040833
AA Change: D328G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
AA Change: D328G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148571

Coding Region Coverage

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,755,227 (GRCm39)		probably null	Het
Alk	C	A	17: 72,208,388 (GRCm39)	G944V	probably damaging	Het
Alox15	T	C	11: 70,236,727 (GRCm39)	D446G	probably damaging	Het
Apof	A	G	10: 128,105,353 (GRCm39)		probably null	Het
Arhgap28	T	G	17: 68,180,154 (GRCm39)	D81A	possibly damaging	Het
Bltp1	T	C	3: 37,084,813 (GRCm39)	S3922P	probably benign	Het
Bms1	T	C	6: 118,382,185 (GRCm39)	E451G	possibly damaging	Het
C9orf72	A	G	4: 35,205,887 (GRCm39)		probably benign	Het
Capn13	T	A	17: 73,658,421 (GRCm39)	T216S	possibly damaging	Het
Ccdc28a	A	T	10: 18,089,931 (GRCm39)		probably benign	Het
Cdip1	T	C	16: 4,586,676 (GRCm39)	T150A	probably damaging	Het
Chrnb3	T	A	8: 27,883,836 (GRCm39)	L191Q	probably damaging	Het
Chst2	G	A	9: 95,287,285 (GRCm39)	Q354*	probably null	Het
Cldn11	T	C	3: 31,204,345 (GRCm39)	V16A	probably benign	Het
Cyp4f18	A	G	8: 72,752,072 (GRCm39)	M198T	probably damaging	Het
Dhx30	A	G	9: 109,920,587 (GRCm39)	L280P	probably damaging	Het
Disc1	A	G	8: 125,862,258 (GRCm39)		probably benign	Het
Dnm1l	T	C	16: 16,154,840 (GRCm39)	I172V	possibly damaging	Het
Fbxo10	G	A	4: 45,062,517 (GRCm39)	T3M	probably benign	Het
Fdxacb1	T	A	9: 50,682,863 (GRCm39)	S275R	possibly damaging	Het
Gm7275	C	A	16: 47,893,991 (GRCm39)		noncoding transcript	Het
Helz2	A	T	2: 180,872,815 (GRCm39)	I2468N	probably damaging	Het
Ift46	C	A	9: 44,698,176 (GRCm39)	P213Q	probably damaging	Het
Ift56	A	G	6: 38,386,373 (GRCm39)	M365V	possibly damaging	Het
Irf2	G	T	8: 47,299,207 (GRCm39)	V334F	probably damaging	Het
Lrp4	T	A	2: 91,338,927 (GRCm39)	V1786E	probably benign	Het
Mfsd5	A	G	15: 102,188,973 (GRCm39)	Y115C	probably benign	Het
Muc5ac	A	G	7: 141,357,187 (GRCm39)	R1154G	possibly damaging	Het
Nek4	G	T	14: 30,686,008 (GRCm39)	E314*	probably null	Het
Oas2	C	T	5: 120,886,815 (GRCm39)	G117D	possibly damaging	Het
Or8j3b	A	T	2: 86,204,867 (GRCm39)	D296E	probably benign	Het
Pikfyve	C	T	1: 65,283,663 (GRCm39)	H767Y	probably damaging	Het
Pkhd1	T	C	1: 20,632,642 (GRCm39)	H591R	probably benign	Het
Pygl	T	A	12: 70,241,032 (GRCm39)	I672F	probably benign	Het
Rft1	G	T	14: 30,382,278 (GRCm39)		probably benign	Het
Ripor3	A	C	2: 167,831,250 (GRCm39)	L517R	probably damaging	Het
Serpina3b	A	G	12: 104,096,721 (GRCm39)	M1V	probably null	Het
Sgce	C	T	6: 4,694,059 (GRCm39)	R263Q	probably damaging	Het
Stard6	A	T	18: 70,629,183 (GRCm39)		probably null	Het
Them4	T	C	3: 94,230,978 (GRCm39)	F117L	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Vmn2r116	G	T	17: 23,606,338 (GRCm39)	D417Y	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
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
R6714:Edem2	UTSW	2	155,570,809 (GRCm39)	critical splice donor site	probably null
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

Posted On

2015-04-16