Mutagenetix > Incidental Mutation

Incidental Mutation 'R5347:Edem3'

422647

Institutional Source

Beutler Lab

Gene Symbol

Edem3

Ensembl Gene

ENSMUSG00000043019

Gene Name

ER degradation enhancer, mannosidase alpha-like 3

Synonyms

2310050N11Rik

MMRRC Submission

042926-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

R5347 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151631122-151697802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151683202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 626 (Q626R)

Ref Sequence

ENSEMBL: ENSMUSP00000140234 (fasta)

Gene Model

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

AlphaFold

Q2HXL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000059498
AA Change: Q645R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: Q645R

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

possibly damaging
Transcript: ENSMUST00000187951
AA Change: Q627R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: Q627R

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

possibly damaging
Transcript: ENSMUST00000188145
AA Change: Q645R

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: Q645R

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 damaging
Transcript: ENSMUST00000191070
AA Change: Q626R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: Q626R

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

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,782,166 (GRCm39)	Y233C	probably damaging	Het
Agl	A	G	3: 116,584,814 (GRCm39)	S169P	probably damaging	Het
Arid1b	C	T	17: 5,341,332 (GRCm39)	Q879*	probably null	Het
Bbs2	A	G	8: 94,819,178 (GRCm39)	S64P	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Cacna2d2	A	G	9: 107,391,313 (GRCm39)	T447A	probably benign	Het
Ccdc168	T	A	1: 44,096,955 (GRCm39)	Y1381F	probably benign	Het
Ccdc169	A	T	3: 55,049,740 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,560,546 (GRCm39)	S275P	possibly damaging	Het
Cdh15	A	G	8: 123,588,802 (GRCm39)	N292S	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnnm1	A	G	19: 43,430,301 (GRCm39)	H473R	probably benign	Het
Cplx4	G	A	18: 66,103,157 (GRCm39)		probably benign	Het
Crb1	C	T	1: 139,265,109 (GRCm39)	G103E	probably damaging	Het
Dnaja3	T	A	16: 4,512,346 (GRCm39)	V250E	possibly damaging	Het
Dync2h1	T	G	9: 7,129,727 (GRCm39)	Q1757P	probably damaging	Het
Eif2b1	T	C	5: 124,716,862 (GRCm39)		probably benign	Het
Esf1	T	A	2: 139,996,801 (GRCm39)	K521*	probably null	Het
Fbxl3	A	C	14: 103,320,730 (GRCm39)	V239G	probably damaging	Het
Fhip2a	A	G	19: 57,367,051 (GRCm39)	D198G	probably benign	Het
Fto	A	G	8: 92,118,107 (GRCm39)		probably benign	Het
Gm5773	T	C	3: 93,681,090 (GRCm39)	L254P	probably damaging	Het
Gm5916	A	T	9: 36,032,012 (GRCm39)	W91R	probably benign	Het
Gpam	A	T	19: 55,077,269 (GRCm39)	L174H	probably damaging	Het
Grk1	G	A	8: 13,464,478 (GRCm39)	R450Q	probably damaging	Het
Hc	G	A	2: 34,927,636 (GRCm39)	A326V	probably benign	Het
Hectd4	T	C	5: 121,442,511 (GRCm39)	I1317T	probably benign	Het
Hlcs	A	G	16: 94,068,383 (GRCm39)	V426A	possibly damaging	Het
Ighv1-23	T	C	12: 114,728,376 (GRCm39)		probably benign	Het
Itgax	G	A	7: 127,740,474 (GRCm39)	V754I	probably benign	Het
Krt24	T	A	11: 99,173,556 (GRCm39)	D255V	probably damaging	Het
Lnpk	T	C	2: 74,403,935 (GRCm39)		probably benign	Het
Loxhd1	G	T	18: 77,454,237 (GRCm39)	R478L	probably damaging	Het
Lrrc56	A	G	7: 140,789,537 (GRCm39)	Q518R	probably benign	Het
Mbl1	A	T	14: 40,880,786 (GRCm39)	I225F	probably damaging	Het
Mmp21	T	C	7: 133,277,651 (GRCm39)	S392G	probably benign	Het
Mug2	T	G	6: 122,058,551 (GRCm39)	F1318V	probably damaging	Het
Myo5c	A	G	9: 75,202,487 (GRCm39)	N1447S	probably null	Het
Nbea	A	C	3: 55,948,297 (GRCm39)	V543G	probably damaging	Het
Necap1	A	G	6: 122,857,706 (GRCm39)	I96V	probably benign	Het
Nr3c2	T	A	8: 77,937,377 (GRCm39)	M872K	possibly damaging	Het
Nrf1	C	T	6: 30,118,967 (GRCm39)	T362M	probably benign	Het
Or14j2	T	C	17: 37,885,618 (GRCm39)	E232G	probably damaging	Het
Pcare	A	G	17: 72,056,930 (GRCm39)	S916P	probably benign	Het
Plekhm3	T	C	1: 64,859,149 (GRCm39)	E685G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sbk3	A	T	7: 4,970,422 (GRCm39)	S316T	probably benign	Het
Serpinb9e	T	C	13: 33,441,767 (GRCm39)	L233P	probably damaging	Het
Set	T	A	2: 29,959,422 (GRCm39)	S132T	possibly damaging	Het
Slc17a4	C	T	13: 24,092,800 (GRCm39)	E11K	possibly damaging	Het
Slc22a6	T	A	19: 8,595,917 (GRCm39)	N86K	possibly damaging	Het
Slco1a6	A	G	6: 142,032,325 (GRCm39)	L600P	probably damaging	Het
Sp8	A	G	12: 118,812,246 (GRCm39)	K34E	possibly damaging	Het
Spen	T	A	4: 141,198,796 (GRCm39)	E3254V	probably benign	Het
Tcf12	G	A	9: 71,792,525 (GRCm39)	P53S	probably damaging	Het
Tcf3	A	G	10: 80,246,045 (GRCm39)	V626A	probably damaging	Het
Trpc4ap	A	G	2: 155,514,908 (GRCm39)		probably null	Het
Ttc3	T	A	16: 94,230,479 (GRCm39)	V892D	probably damaging	Het
Tub	G	T	7: 108,625,978 (GRCm39)	R243L	possibly damaging	Het
Tubgcp5	A	G	7: 55,473,433 (GRCm39)	Y837C	probably damaging	Het
Utp25	A	T	1: 192,810,687 (GRCm39)	D105E	probably benign	Het
Wdhd1	A	T	14: 47,506,181 (GRCm39)	Y244*	probably null	Het
Xdh	T	A	17: 74,232,027 (GRCm39)	T228S	probably benign	Het
Zfp418	A	C	7: 7,185,534 (GRCm39)	Q499P	probably benign	Het
Zfpm1	G	A	8: 123,062,269 (GRCm39)	E443K	possibly damaging	Het
Zfy1	T	C	Y: 725,950 (GRCm39)	H605R	possibly damaging	Het

Other mutations in Edem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Edem3	APN	1	151,694,264 (GRCm39)	missense	probably benign
IGL01065:Edem3	APN	1	151,653,302 (GRCm39)	missense	probably damaging	1.00
IGL01351:Edem3	APN	1	151,668,136 (GRCm39)	missense	possibly damaging	0.95
IGL01451:Edem3	APN	1	151,694,379 (GRCm39)	missense	probably benign	0.21
IGL01831:Edem3	APN	1	151,671,833 (GRCm39)	missense	probably damaging	0.97
IGL02096:Edem3	APN	1	151,680,470 (GRCm39)	missense	probably benign	0.00
IGL02207:Edem3	APN	1	151,684,111 (GRCm39)	missense	possibly damaging	0.77
IGL02507:Edem3	APN	1	151,687,407 (GRCm39)	missense	probably benign	0.20
IGL02690:Edem3	APN	1	151,680,550 (GRCm39)	missense	probably damaging	1.00
Abel	UTSW	1	151,687,270 (GRCm39)	missense	probably damaging	1.00
adam	UTSW	1	151,687,347 (GRCm39)	nonsense	probably null
eve	UTSW	1	151,688,365 (GRCm39)	splice site	probably null
R0421:Edem3	UTSW	1	151,668,189 (GRCm39)	splice site	probably benign
R1463:Edem3	UTSW	1	151,683,261 (GRCm39)	missense	possibly damaging	0.81
R1934:Edem3	UTSW	1	151,680,034 (GRCm39)	missense	probably damaging	1.00
R1958:Edem3	UTSW	1	151,680,076 (GRCm39)	missense	probably damaging	1.00
R2090:Edem3	UTSW	1	151,680,577 (GRCm39)	splice site	probably benign
R2126:Edem3	UTSW	1	151,670,482 (GRCm39)	missense	possibly damaging	0.76
R2191:Edem3	UTSW	1	151,672,634 (GRCm39)	missense	probably damaging	1.00
R2211:Edem3	UTSW	1	151,680,453 (GRCm39)	missense	possibly damaging	0.74
R4005:Edem3	UTSW	1	151,635,506 (GRCm39)	missense	probably damaging	1.00
R4018:Edem3	UTSW	1	151,680,577 (GRCm39)	splice site	probably benign
R4723:Edem3	UTSW	1	151,680,449 (GRCm39)	missense	possibly damaging	0.95
R4818:Edem3	UTSW	1	151,668,136 (GRCm39)	missense	possibly damaging	0.95
R4871:Edem3	UTSW	1	151,679,982 (GRCm39)	splice site	probably null
R5205:Edem3	UTSW	1	151,687,270 (GRCm39)	missense	probably damaging	1.00
R5910:Edem3	UTSW	1	151,646,578 (GRCm39)	splice site	probably null
R7021:Edem3	UTSW	1	151,631,423 (GRCm39)	missense	probably benign	0.01
R7366:Edem3	UTSW	1	151,688,365 (GRCm39)	splice site	probably null
R7481:Edem3	UTSW	1	151,683,974 (GRCm39)	missense	possibly damaging	0.46
R7481:Edem3	UTSW	1	151,683,973 (GRCm39)	missense	probably damaging	0.98
R7734:Edem3	UTSW	1	151,694,336 (GRCm39)	missense	probably benign	0.00
R7773:Edem3	UTSW	1	151,687,347 (GRCm39)	nonsense	probably null
R7828:Edem3	UTSW	1	151,687,386 (GRCm39)	missense	possibly damaging	0.51
R8556:Edem3	UTSW	1	151,660,586 (GRCm39)	missense	possibly damaging	0.77
R8559:Edem3	UTSW	1	151,694,169 (GRCm39)	missense	probably benign	0.27
R8724:Edem3	UTSW	1	151,651,624 (GRCm39)	missense	possibly damaging	0.79
R9193:Edem3	UTSW	1	151,694,270 (GRCm39)	missense	probably benign	0.00
R9201:Edem3	UTSW	1	151,694,324 (GRCm39)	missense	probably benign
X0028:Edem3	UTSW	1	151,694,313 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- AGAAATTCCACGCACAGTTTG -3'
(R):5'- CTGAGTATGTGTTTCCACCACTG -3'

Sequencing Primer
(F):5'- CCACGCACAGTTTGTAATTTAGGAC -3'
(R):5'- AGTATGTGTTTCCACCACTGAGTCC -3'

Posted On

2016-08-04