Mutagenetix > Incidental Mutation

Incidental Mutation 'R5910:Edem3'

460892

Institutional Source

Beutler Lab

Gene Symbol

Edem3

Ensembl Gene

ENSMUSG00000043019

Gene Name

ER degradation enhancer, mannosidase alpha-like 3

Synonyms

2310050N11Rik

MMRRC Submission

044107-MU

Accession Numbers

Essential gene?

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

Stock #

R5910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151631122-151697802 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 151646578 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 null
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 null
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 null
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 null
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

0.9755

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

95% (93/98)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,076 (GRCm39)	N976D	probably damaging	Het
Adamts1	G	A	16: 85,599,037 (GRCm39)	R188W	probably benign	Het
Adcy4	A	T	14: 56,016,470 (GRCm39)	V327D	probably damaging	Het
Alg8	T	C	7: 97,039,493 (GRCm39)	I408T	possibly damaging	Het
Ankib1	T	C	5: 3,743,217 (GRCm39)	S933G	probably benign	Het
Ap2a2	A	G	7: 141,178,691 (GRCm39)	D106G	probably damaging	Het
Arhgap22	A	T	14: 33,088,572 (GRCm39)	H351L	probably damaging	Het
Arhgef2	A	G	3: 88,542,327 (GRCm39)	Y310C	probably damaging	Het
Atm	A	T	9: 53,359,380 (GRCm39)	S2804R	probably damaging	Het
Baz2b	A	G	2: 59,807,770 (GRCm39)	L163P	possibly damaging	Het
Bcl2l12	C	T	7: 44,645,967 (GRCm39)		probably null	Het
Cdh23	A	G	10: 60,213,600 (GRCm39)	V1495A	possibly damaging	Het
Cep78	A	G	19: 15,946,492 (GRCm39)	S447P	possibly damaging	Het
Cfap43	G	A	19: 47,768,710 (GRCm39)	T778I	possibly damaging	Het
Cfap54	A	T	10: 92,901,043 (GRCm39)	N170K	probably damaging	Het
Cmya5	A	T	13: 93,229,151 (GRCm39)	L1979Q	probably damaging	Het
Col15a1	A	T	4: 47,289,514 (GRCm39)	E846D	probably damaging	Het
Col5a1	A	G	2: 27,926,900 (GRCm39)	K308E	possibly damaging	Het
Dcst1	T	A	3: 89,257,731 (GRCm39)	T680S	possibly damaging	Het
Dsp	T	C	13: 38,376,445 (GRCm39)	L1410P	possibly damaging	Het
Efcab3	A	T	11: 104,581,760 (GRCm39)	E34V	probably benign	Het
Eif4e2	T	A	1: 87,148,696 (GRCm39)	Y64N	probably damaging	Het
Fcgbp	C	T	7: 27,784,928 (GRCm39)		probably benign	Het
Gm7275	A	T	16: 47,893,826 (GRCm39)		noncoding transcript	Het
Grin3b	G	T	10: 79,808,855 (GRCm39)	V202L	probably benign	Het
Gsdmc4	G	A	15: 63,767,101 (GRCm39)	S223F	possibly damaging	Het
H2bc14	A	G	13: 21,906,470 (GRCm39)	N68S	probably benign	Het
Hbp1	T	C	12: 31,987,651 (GRCm39)	H183R	probably benign	Het
Hectd3	A	G	4: 116,859,331 (GRCm39)	M652V	probably benign	Het
Hmgxb4	T	C	8: 75,726,193 (GRCm39)	F13L	probably benign	Het
Hnrnpab	T	C	11: 51,492,281 (GRCm39)	K271R	probably benign	Het
Ilvbl	A	T	10: 78,412,947 (GRCm39)	K156N	probably benign	Het
Iqce	A	T	5: 140,687,973 (GRCm39)		probably benign	Het
Itpr2	C	A	6: 146,231,069 (GRCm39)	V1194L	probably benign	Het
Kif18b	A	G	11: 102,804,370 (GRCm39)	F384L	probably benign	Het
Klf14	A	G	6: 30,934,774 (GRCm39)	Y287H	probably benign	Het
Klhl6	A	G	16: 19,775,844 (GRCm39)	M238T	probably benign	Het
Lbp	G	A	2: 158,166,477 (GRCm39)	V344I	probably benign	Het
Lrp12	T	C	15: 39,739,439 (GRCm39)		probably null	Het
Mapk7	T	A	11: 61,384,447 (GRCm39)	M1L	probably benign	Het
Muc5b	A	G	7: 141,415,048 (GRCm39)	T2665A	possibly damaging	Het
Ncln	A	T	10: 81,331,912 (GRCm39)		probably null	Het
Nfxl1	T	C	5: 72,697,708 (GRCm39)	R347G	probably benign	Het
Npnt	C	A	3: 132,612,179 (GRCm39)	C231F	probably damaging	Het
Nrap	T	A	19: 56,330,743 (GRCm39)	H1070L	probably benign	Het
Nrxn1	G	T	17: 91,011,746 (GRCm39)	Y294*	probably null	Het
Or4c126	A	G	2: 89,823,782 (GRCm39)	D15G	probably benign	Het
Or9s27	T	C	1: 92,516,429 (GRCm39)	Y126H	probably damaging	Het
Otog	A	G	7: 45,948,022 (GRCm39)	H2341R	possibly damaging	Het
Paqr3	T	C	5: 97,243,887 (GRCm39)		probably null	Het
Pcdhb11	T	C	18: 37,556,796 (GRCm39)	F709L	probably benign	Het
Phf12	G	A	11: 77,918,224 (GRCm39)	R812Q	probably damaging	Het
Polr2a	A	T	11: 69,637,696 (GRCm39)	L216Q	probably damaging	Het
Polrmt	A	G	10: 79,579,331 (GRCm39)	L140P	probably benign	Het
Pou2f3	C	T	9: 43,045,769 (GRCm39)		probably null	Het
Prkcd	A	T	14: 30,317,938 (GRCm39)	N548K	probably benign	Het
Pygb	A	G	2: 150,657,620 (GRCm39)	D361G	probably benign	Het
Rpl9	A	T	5: 65,546,044 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,272,912 (GRCm39)	T211S	probably benign	Het
Rusc1	C	T	3: 88,999,027 (GRCm39)	G252S	probably benign	Het
Scnn1g	A	G	7: 121,337,318 (GRCm39)	T60A	probably damaging	Het
Sipa1l2	T	G	8: 126,218,423 (GRCm39)	T305P	probably benign	Het
Slc18b1	T	A	10: 23,700,565 (GRCm39)		probably benign	Het
Sp100	G	A	1: 85,608,861 (GRCm39)		probably null	Het
Tekt5	A	T	16: 10,205,017 (GRCm39)		probably null	Het
Tlnrd1	T	A	7: 83,533,693 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,685,462 (GRCm39)		probably benign	Het
Tpcn2	T	C	7: 144,814,719 (GRCm39)	I461V	probably benign	Het
Traf3ip1	A	G	1: 91,455,467 (GRCm39)	K643E	probably damaging	Het
Trim33	T	C	3: 103,251,892 (GRCm39)	C914R	probably damaging	Het
Trip11	G	A	12: 101,849,738 (GRCm39)	T1442I	probably damaging	Het
Ttll6	A	G	11: 96,026,415 (GRCm39)	M107V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,445 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,553,370 (GRCm39)	I914N	possibly damaging	Het
Usp24	A	G	4: 106,237,665 (GRCm39)	T1107A	probably damaging	Het
Usp40	A	T	1: 87,896,122 (GRCm39)	C811*	probably null	Het
Vps11	T	C	9: 44,270,432 (GRCm39)		probably null	Het
Wdr91	A	T	6: 34,868,422 (GRCm39)	I433N	possibly damaging	Het
Zfp770	G	C	2: 114,026,713 (GRCm39)	S452*	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
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
R5347:Edem3	UTSW	1	151,683,202 (GRCm39)	missense	probably damaging	0.97
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'- GAGGGAAATCAGATTATCCGGTTTTG -3'
(R):5'- GGATTTTCTCTCCGACCCAG -3'

Sequencing Primer
(F):5'- TTTTCAAGATAGAGCAGCCCTGG -3'
(R):5'- GACCCAGCTACTCTGAAGGC -3'

Posted On

2017-02-28