Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Edem3'

238073

Institutional Source

Beutler Lab

Gene Symbol

Edem3

Ensembl Gene

ENSMUSG00000043019

Gene Name

ER degradation enhancer, mannosidase alpha-like 3

Synonyms

2310050N11Rik

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.394) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151631122-151697802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151672634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 450 (V450D)

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: V450D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: V450D

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 damaging
Transcript: ENSMUST00000187951
AA Change: V450D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: V450D

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 damaging
Transcript: ENSMUST00000188145
AA Change: V450D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: V450D

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: V450D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: V450D

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: 97.7%
20x: 96.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,865 (GRCm39)	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,831,691 (GRCm39)	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,676,857 (GRCm39)	E479D	probably damaging	Het
Actn1	A	T	12: 80,218,576 (GRCm39)	L736*	probably null	Het
Adcyap1	A	G	17: 93,507,454 (GRCm39)	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,714,409 (GRCm39)	N958S	possibly damaging	Het
Armc1	T	A	3: 19,188,225 (GRCm39)	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,796,266 (GRCm39)	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,319,591 (GRCm39)	Q1370K	probably damaging	Het
Cdip1	C	T	16: 4,587,927 (GRCm39)	S12N	probably benign	Het
Chrna3	T	A	9: 54,923,329 (GRCm39)	I160F	probably damaging	Het
Cnot1	A	G	8: 96,488,054 (GRCm39)	I534T	probably damaging	Het
Cr2	T	A	1: 194,845,689 (GRCm39)	I465F	possibly damaging	Het
Daw1	A	G	1: 83,170,384 (GRCm39)	D232G	probably benign	Het
Dcaf6	T	C	1: 165,250,433 (GRCm39)	T144A	probably benign	Het
Dhx30	A	T	9: 109,915,186 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,645,034 (GRCm39)	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,253,856 (GRCm39)	T184A	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ephb6	G	T	6: 41,593,019 (GRCm39)	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811 (GRCm39)	P608R	probably damaging	Het
Flrt1	A	G	19: 7,073,194 (GRCm39)	I451T	probably damaging	Het
Gm6309	A	T	5: 146,105,681 (GRCm39)	V161E	possibly damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Igsf1	C	A	X: 48,872,027 (GRCm39)	L714F	probably damaging	Het
Inpp4b	C	T	8: 82,723,931 (GRCm39)	P488S	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Itprid1	A	T	6: 55,944,704 (GRCm39)	Q475L	probably benign	Het
Kdm2a	A	T	19: 4,406,959 (GRCm39)		probably null	Het
Khdrbs3	G	T	15: 68,964,809 (GRCm39)	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,758,930 (GRCm39)		probably null	Het
Laptm4a	T	C	12: 8,972,296 (GRCm39)		probably null	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc37	A	C	11: 103,509,793 (GRCm39)		probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myo18a	A	G	11: 77,709,441 (GRCm39)	D138G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,587 (GRCm39)	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720 (GRCm39)	R719H	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or2a54	T	C	6: 43,092,999 (GRCm39)	S108P	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or8g23	A	T	9: 38,971,701 (GRCm39)	I87K	probably benign	Het
Pclo	C	T	5: 14,763,862 (GRCm39)	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,634,931 (GRCm39)	N477S	probably benign	Het
Phf20	T	C	2: 156,118,574 (GRCm39)	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,021,680 (GRCm39)		probably null	Het
Plagl1	A	C	10: 13,004,685 (GRCm39)		probably benign	Het
Ppip5k2	A	G	1: 97,671,835 (GRCm39)	V479A	probably damaging	Het
Prkdc	A	C	16: 15,516,688 (GRCm39)	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,724,467 (GRCm39)	V6I	probably benign	Het
Rictor	A	T	15: 6,789,095 (GRCm39)	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,113,772 (GRCm39)		probably null	Het
Setd5	C	T	6: 113,088,390 (GRCm39)	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,443,465 (GRCm39)	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,396 (GRCm39)	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,709,301 (GRCm39)	A52T	probably damaging	Het
Srebf1	T	C	11: 60,111,365 (GRCm39)	D2G	probably damaging	Het
Stab1	A	T	14: 30,864,757 (GRCm39)	M66K	probably benign	Het
Stab1	T	C	14: 30,881,227 (GRCm39)	N601S	probably damaging	Het
Sv2b	C	T	7: 74,773,836 (GRCm39)	G545D	probably damaging	Het
Syt5	G	A	7: 4,546,088 (GRCm39)	Q101*	probably null	Het
Thada	A	G	17: 84,753,949 (GRCm39)	F341L	probably benign	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413 (GRCm39)		probably null	Het
Tonsl	G	T	15: 76,516,880 (GRCm39)	L917M	probably damaging	Het
Ttk	A	G	9: 83,744,236 (GRCm39)	K519E	probably damaging	Het
Ttn	T	C	2: 76,537,478 (GRCm39)	T34817A	probably benign	Het
Ubr1	A	T	2: 120,756,528 (GRCm39)	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566 (GRCm39)	C1312*	probably null	Het
Usp36	A	G	11: 118,175,849 (GRCm39)	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,283,403 (GRCm39)	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,723,147 (GRCm39)	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,085,121 (GRCm39)	F289L	probably benign	Het
Ythdf3	T	C	3: 16,257,375 (GRCm39)		probably benign	Het
Zfp507	T	A	7: 35,494,268 (GRCm39)	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,234,442 (GRCm39)	H156R	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
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'- GTGGTGTATTTCCAAACCTATTTCCTG -3'
(R):5'- TACTACACATGTGGCACTATGG -3'

Sequencing Primer
(F):5'- CACTGCCTAACTACTGGATGGATG -3'
(R):5'- CACATGTGGCACTATGGTAAAAAC -3'

Posted On

2014-10-02