Mutagenetix > Incidental Mutation

Incidental Mutation 'R2090:Edem3'

231686

Institutional Source

Beutler Lab

Gene Symbol

Edem3

Ensembl Gene

ENSMUSG00000043019

Gene Name

ER degradation enhancer, mannosidase alpha-like 3

Synonyms

2310050N11Rik

MMRRC Submission

040095-MU

Accession Numbers

Essential gene?

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

Stock #

R2090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151631122-151697802 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 151680577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140234 (fasta)

Gene Model

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

AlphaFold

Q2HXL6

Predicted Effect

probably benign
Transcript: ENSMUST00000059498

SMART Domains

Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019

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

SMART Domains

Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019

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

SMART Domains

Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019

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

SMART Domains

Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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
Adam32	A	G	8: 25,391,456 (GRCm39)		probably null	Het
Adcy7	A	T	8: 89,042,485 (GRCm39)	T451S	probably damaging	Het
Adgrg3	A	T	8: 95,766,558 (GRCm39)	T410S	possibly damaging	Het
Alg11	G	T	8: 22,555,646 (GRCm39)	L302F	possibly damaging	Het
Ankrd17	A	G	5: 90,445,905 (GRCm39)	V310A	possibly damaging	Het
Atg16l2	C	T	7: 100,942,575 (GRCm39)		probably null	Het
B3gnt2	A	G	11: 22,786,291 (GRCm39)	V299A	probably benign	Het
Birc6	A	G	17: 74,969,791 (GRCm39)	N4258S	probably benign	Het
C2cd4d	A	G	3: 94,271,321 (GRCm39)	K196E	probably benign	Het
Calhm6	A	G	10: 34,002,358 (GRCm39)	S242P	probably damaging	Het
Cdr2l	A	G	11: 115,281,827 (GRCm39)	K111E	probably damaging	Het
Crtam	T	C	9: 40,895,612 (GRCm39)	Q41R	possibly damaging	Het
Cspp1	A	G	1: 10,160,493 (GRCm39)	K560R	possibly damaging	Het
Dcaf15	A	T	8: 84,824,400 (GRCm39)	Y571*	probably null	Het
Defa39	A	T	8: 22,192,805 (GRCm39)	W64R	possibly damaging	Het
Dpy19l4	T	C	4: 11,304,344 (GRCm39)	Y99C	probably benign	Het
Enpp6	A	T	8: 47,518,405 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,824 (GRCm39)	D254E	probably benign	Het
Gjb5	T	C	4: 127,249,794 (GRCm39)	N117D	probably benign	Het
Glmn	G	A	5: 107,709,794 (GRCm39)	L337F	probably damaging	Het
Gsdmc2	T	A	15: 63,698,675 (GRCm39)	Y307F	probably benign	Het
Gsdmc3	T	A	15: 63,738,631 (GRCm39)	M144L	probably benign	Het
Ibtk	A	G	9: 85,603,046 (GRCm39)	I653T	probably benign	Het
Il24	T	G	1: 130,812,574 (GRCm39)	D99A	possibly damaging	Het
Intu	A	G	3: 40,637,966 (GRCm39)	Q484R	probably benign	Het
Iqca1l	A	G	5: 24,755,674 (GRCm39)	S283P	probably benign	Het
Lsp1	T	C	7: 142,045,544 (GRCm39)		probably benign	Het
Mad1l1	A	G	5: 139,995,011 (GRCm39)	S672P	probably benign	Het
Man2a2	A	T	7: 80,013,858 (GRCm39)		probably benign	Het
Morc3	C	A	16: 93,663,341 (GRCm39)	H515N	probably benign	Het
Nav1	T	C	1: 135,534,903 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,230 (GRCm39)	L247P	probably damaging	Het
Nfkbiz	A	T	16: 55,636,818 (GRCm39)	F494L	probably benign	Het
Nr1d1	G	A	11: 98,661,436 (GRCm39)	P277S	probably damaging	Het
Nrg2	T	C	18: 36,151,496 (GRCm39)	D682G	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Oasl1	G	A	5: 115,073,993 (GRCm39)	D301N	probably damaging	Het
Or10ag56	A	T	2: 87,139,762 (GRCm39)	I230F	probably benign	Het
Or14a258	A	T	7: 86,035,289 (GRCm39)	I193N	probably benign	Het
Or5h26	A	G	16: 58,988,503 (GRCm39)	M1T	probably null	Het
Palmd	A	G	3: 116,721,083 (GRCm39)	S123P	probably damaging	Het
Patj	A	G	4: 98,325,560 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,655 (GRCm39)	D162G	probably benign	Het
Plppr5	A	G	3: 117,369,520 (GRCm39)	D59G	possibly damaging	Het
Pmvk	A	C	3: 89,369,189 (GRCm39)	R11S	possibly damaging	Het
Pnliprp1	A	G	19: 58,728,901 (GRCm39)	T363A	probably benign	Het
Poll	A	T	19: 45,547,277 (GRCm39)	I65N	probably benign	Het
Prox1	T	A	1: 189,893,009 (GRCm39)	S479C	probably damaging	Het
Prss50	A	T	9: 110,691,361 (GRCm39)	S222C	probably damaging	Het
Rasa3	A	C	8: 13,632,381 (GRCm39)		probably benign	Het
Sec14l3	T	C	11: 4,025,481 (GRCm39)	V335A	probably benign	Het
Setbp1	C	T	18: 78,899,935 (GRCm39)	S1244N	probably benign	Het
Sgcg	A	T	14: 61,483,213 (GRCm39)	F63I	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc2a13	T	A	15: 91,400,695 (GRCm39)	I176F	probably benign	Het
Smc6	A	G	12: 11,339,987 (GRCm39)	T432A	probably benign	Het
Snx25	G	A	8: 46,509,150 (GRCm39)	P478L	probably damaging	Het
Taf2	A	T	15: 54,879,882 (GRCm39)	H1151Q	probably damaging	Het
Thsd1	A	G	8: 22,749,673 (GRCm39)	K795R	possibly damaging	Het
Tmem108	G	A	9: 103,361,976 (GRCm39)	L537F	possibly damaging	Het
Ubr3	T	C	2: 69,766,361 (GRCm39)	Y410H	probably damaging	Het
Vav3	T	C	3: 109,555,055 (GRCm39)		probably null	Het
Vmn1r224	T	C	17: 20,639,524 (GRCm39)	Y34H	probably benign	Het
Zeb1	T	C	18: 5,766,458 (GRCm39)	V323A	possibly damaging	Het
Zfp652	A	G	11: 95,644,834 (GRCm39)	D240G	probably benign	Het
Zfp963	A	T	8: 70,195,996 (GRCm39)	C152*	probably null	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
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
R5347:Edem3	UTSW	1	151,683,202 (GRCm39)	missense	probably damaging	0.97
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'- AGGAGGGGTTACTTACAATATTGTC -3'
(R):5'- CTGTCTTTCCACTATGCAGAAAC -3'

Sequencing Primer
(F):5'- TGTCTCATTTTCTTTTAGGACATCAC -3'
(R):5'- TTTCCACTATGCAGAAACTACAAAG -3'

Posted On

2014-09-18