Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00503:Edem3'

332509

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edem3

Ensembl Gene

ENSMUSG00000043019

Gene Name

ER degradation enhancer, mannosidase alpha-like 3

Synonyms

2310050N11Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.370) question?

Stock #

IGL00503

Quality Score

Status

Chromosome

Chromosomal Location

151755371-151822051 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 151818513 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 852 (S852A)

Ref Sequence

ENSEMBL: ENSMUSP00000140234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059498] [ENSMUST00000187951] [ENSMUST00000188145] [ENSMUST00000191070]

Predicted Effect

probably benign
Transcript: ENSMUST00000059498
AA Change: S866A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: S866A

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:Glyco_hydro_47	60	499	3.5e-118	PFAM
low complexity region	635	648	N/A	INTRINSIC
Pfam:PA	672	778	9.4e-16	PFAM
low complexity region	838	855	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187951
AA Change: S848A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: S848A

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:Glyco_hydro_47	60	499	1.8e-147	PFAM
low complexity region	617	630	N/A	INTRINSIC
Pfam:PA	658	762	1.6e-17	PFAM
low complexity region	820	837	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188145
AA Change: S882A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: S882A

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
Pfam:Glyco_hydro_47	60	499	3.3e-144	PFAM
low complexity region	635	648	N/A	INTRINSIC
Pfam:PA	676	780	4.3e-15	PFAM
low complexity region	854	871	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191070
AA Change: S852A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: S852A

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
Pfam:Glyco_hydro_47	60	499	3e-144	PFAM
low complexity region	616	629	N/A	INTRINSIC
Pfam:PA	657	761	4.1e-15	PFAM
low complexity region	824	841	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	A	18: 68,950,102	R14*	probably null	Het
Abcb5	A	G	12: 118,907,601	S688P	probably benign	Het
Adgb	T	A	10: 10,406,099	Q597L	possibly damaging	Het
Aga	G	A	8: 53,518,921	V210I	probably benign	Het
Akap17b	A	G	X: 36,612,310	S515P	probably damaging	Het
Brinp3	A	T	1: 146,901,167	T451S	probably benign	Het
Cabcoco1	G	T	10: 68,541,805	T18N	possibly damaging	Het
Ccar2	C	T	14: 70,142,531	W402*	probably null	Het
Ccdc15	G	A	9: 37,320,473	A185V	probably damaging	Het
Ccdc50	G	A	16: 27,409,352	E90K	probably damaging	Het
Cckbr	G	A	7: 105,434,242	M217I	probably benign	Het
Clec16a	A	G	16: 10,694,649	T398A	possibly damaging	Het
Col4a1	A	G	8: 11,240,076		probably benign	Het
Cyp4v3	T	A	8: 45,307,021	E498V	probably damaging	Het
Dgke	T	C	11: 89,041,501	I488V	probably benign	Het
Dip2c	A	G	13: 9,567,898	D443G	probably damaging	Het
Fbxo8	T	A	8: 56,588,023	M158K	probably benign	Het
Galnt15	C	T	14: 32,052,356	T359M	possibly damaging	Het
Herc6	A	G	6: 57,607,145	N330D	probably benign	Het
Kdf1	T	C	4: 133,528,157	S62P	probably damaging	Het
Larp4	T	A	15: 99,987,421	I51N	probably damaging	Het
Mfsd6l	T	A	11: 68,556,473	I50N	probably damaging	Het
Mroh2b	A	G	15: 4,899,197	Y4C	probably benign	Het
Muc3	G	T	5: 137,137,123	Y343*	probably null	Het
Myom2	A	C	8: 15,114,289		probably null	Het
Npat	A	T	9: 53,572,649		probably benign	Het
Pamr1	A	T	2: 102,642,272	I639F	possibly damaging	Het
Pcsk2	A	G	2: 143,793,239	S345G	probably damaging	Het
Pcyt1a	A	G	16: 32,467,101	T197A	probably damaging	Het
Pkd1	A	G	17: 24,565,427	M316V	probably benign	Het
Plekhs1	T	C	19: 56,464,599		probably null	Het
Sema3e	G	T	5: 14,240,572	R557M	probably damaging	Het
Sgsm1	T	C	5: 113,276,142	N154S	probably benign	Het
Smg1	A	T	7: 118,185,483		probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Spats1	A	T	17: 45,454,085		probably null	Het
Tnfaip6	T	G	2: 52,055,847	V235G	probably damaging	Het
Trim34a	A	T	7: 104,261,331	T447S	probably damaging	Het
Tut1	G	A	19: 8,959,096	A95T	probably damaging	Het
Urgcp	C	T	11: 5,716,448	R630Q	possibly damaging	Het
Vmn1r125	G	T	7: 21,272,181	M1I	probably null	Het
Vmn2r99	A	G	17: 19,378,854	T267A	probably benign	Het
Wdr5	A	G	2: 27,520,867	K162E	probably benign	Het
Zscan26	T	G	13: 21,445,101	K285Q	probably damaging	Het

Other mutations in Edem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Edem3	APN	1	151777551	missense	probably damaging	1.00
IGL01351:Edem3	APN	1	151792385	missense	possibly damaging	0.95
IGL01451:Edem3	APN	1	151818628	missense	probably benign	0.21
IGL01831:Edem3	APN	1	151796082	missense	probably damaging	0.97
IGL02096:Edem3	APN	1	151804719	missense	probably benign	0.00
IGL02207:Edem3	APN	1	151808360	missense	possibly damaging	0.77
IGL02507:Edem3	APN	1	151811656	missense	probably benign	0.20
IGL02690:Edem3	APN	1	151804799	missense	probably damaging	1.00
Abel	UTSW	1	151811519	missense	probably damaging	1.00
adam	UTSW	1	151811596	nonsense	probably null
eve	UTSW	1	151812614	splice site	probably null
R0421:Edem3	UTSW	1	151792438	splice site	probably benign
R1463:Edem3	UTSW	1	151807510	missense	possibly damaging	0.81
R1934:Edem3	UTSW	1	151804283	missense	probably damaging	1.00
R1958:Edem3	UTSW	1	151804325	missense	probably damaging	1.00
R2090:Edem3	UTSW	1	151804826	splice site	probably benign
R2126:Edem3	UTSW	1	151794731	missense	possibly damaging	0.76
R2191:Edem3	UTSW	1	151796883	missense	probably damaging	1.00
R2211:Edem3	UTSW	1	151804702	missense	possibly damaging	0.74
R4005:Edem3	UTSW	1	151759755	missense	probably damaging	1.00
R4018:Edem3	UTSW	1	151804826	splice site	probably benign
R4723:Edem3	UTSW	1	151804698	missense	possibly damaging	0.95
R4818:Edem3	UTSW	1	151792385	missense	possibly damaging	0.95
R4871:Edem3	UTSW	1	151804231	splice site	probably null
R5205:Edem3	UTSW	1	151811519	missense	probably damaging	1.00
R5347:Edem3	UTSW	1	151807451	missense	probably damaging	0.97
R5910:Edem3	UTSW	1	151770827	splice site	probably null
R7021:Edem3	UTSW	1	151755672	missense	probably benign	0.01
R7366:Edem3	UTSW	1	151812614	splice site	probably null
R7481:Edem3	UTSW	1	151808222	missense	probably damaging	0.98
R7481:Edem3	UTSW	1	151808223	missense	possibly damaging	0.46
R7734:Edem3	UTSW	1	151818585	missense	probably benign	0.00
R7773:Edem3	UTSW	1	151811596	nonsense	probably null
R7828:Edem3	UTSW	1	151811635	missense	possibly damaging	0.51
R8556:Edem3	UTSW	1	151784835	missense	possibly damaging	0.77
X0028:Edem3	UTSW	1	151818562	missense	probably benign	0.24

Posted On

2015-08-05