Mutagenetix > Incidental Mutation

Incidental Mutation 'R5368:Emc2'

429499

Institutional Source

Beutler Lab

Gene Symbol

Emc2

Ensembl Gene

ENSMUSG00000022337

Gene Name

ER membrane protein complex subunit 2

Synonyms

MMRRC Submission

043204-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R5368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43477229-43527763 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 43511811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022962]

AlphaFold

Q9CRD2

Predicted Effect

probably null
Transcript: ENSMUST00000022962

SMART Domains

Protein: ENSMUSP00000022962
Gene: ENSMUSG00000022337

Domain	Start	End	E-Value	Type
coiled coil region	13	36	N/A	INTRINSIC
Pfam:TPR_2	88	120	6.8e-5	PFAM
Pfam:TPR_19	98	151	5.9e-8	PFAM
Pfam:TPR_19	131	198	3.7e-8	PFAM
Pfam:TPR_2	155	188	2.4e-6	PFAM
Pfam:TPR_8	155	188	1.4e-4	PFAM

Meta Mutation Damage Score

0.9588

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 131,139,196	H97L	possibly damaging	Het
Abca9	T	A	11: 110,145,546	N579I	probably damaging	Het
Acbd3	A	T	1: 180,722,095		probably benign	Het
Ankrd50	A	T	3: 38,455,050	I1056N	probably damaging	Het
Ceacam18	T	C	7: 43,642,034	V300A	probably benign	Het
Cfap46	C	A	7: 139,627,473	R1843S	possibly damaging	Het
D430041D05Rik	A	G	2: 104,248,284	V1229A	probably damaging	Het
Dbx2	G	A	15: 95,640,641	S206L	probably benign	Het
Dnah11	A	T	12: 117,954,893	D1530E	probably damaging	Het
Ecm2	A	C	13: 49,520,943	T280P	probably benign	Het
Epb42	C	T	2: 121,019,462	V689I	probably benign	Het
Fam114a1	T	A	5: 65,006,109	M209K	possibly damaging	Het
Fam117a	C	T	11: 95,375,633	S193F	probably damaging	Het
Foxp2	A	T	6: 15,377,914		probably benign	Het
Frmd6	T	A	12: 70,864,100	C19*	probably null	Het
Fyb	A	G	15: 6,580,678		probably null	Het
Gata6	C	A	18: 11,063,059	H442Q	possibly damaging	Het
Gldc	A	G	19: 30,158,521	S160P	probably benign	Het
Gm3952	A	G	8: 128,745,974	S1626P	possibly damaging	Het
Gm9762	T	A	3: 78,966,435		noncoding transcript	Het
Gtpbp2	T	C	17: 46,166,304		probably benign	Het
Hgd	A	T	16: 37,589,751	T50S	probably benign	Het
Itpr1	C	T	6: 108,387,498	T22M	probably damaging	Het
Kif26b	G	A	1: 178,915,884	E1182K	probably damaging	Het
Kirrel3	A	G	9: 35,007,738	E230G	probably damaging	Het
Leng8	A	G	7: 4,139,988	Y88C	probably damaging	Het
Lpo	T	C	11: 87,821,069	D54G	possibly damaging	Het
Lypd2	G	T	15: 74,733,059	A29E	probably benign	Het
Mdn1	C	T	4: 32,723,690	P2542L	probably damaging	Het
Mical3	T	C	6: 120,959,473	Y1364C	probably damaging	Het
Mroh2b	A	G	15: 4,905,572	N163S	probably damaging	Het
Mtf1	G	A	4: 124,825,079	C295Y	probably damaging	Het
Nbn	T	A	4: 15,969,391	L212Q	probably damaging	Het
Obscn	A	T	11: 59,069,026		probably null	Het
Olfr1118	T	A	2: 87,308,782		probably null	Het
Olfr1215	A	G	2: 89,002,091	S66P	probably damaging	Het
Peli1	A	G	11: 21,148,389	T375A	probably damaging	Het
Picalm	T	C	7: 90,207,595	*611Q	probably null	Het
Plch1	G	T	3: 63,701,973	Q938K	possibly damaging	Het
Plxnb2	A	G	15: 89,159,593	V1352A	possibly damaging	Het
Pmepa1	G	A	2: 173,228,322	R147W	probably damaging	Het
Prdm16	T	G	4: 154,345,391	K373Q	probably damaging	Het
Qk	T	G	17: 10,239,035	E135A	probably damaging	Het
Rad50	T	C	11: 53,684,246	K556E	probably benign	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Sin3a	T	A	9: 57,110,800	D834E	possibly damaging	Het
Smg8	G	A	11: 87,080,260	S895L	probably benign	Het
Sorl1	T	C	9: 41,979,390	I1944M	probably benign	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Tmprss7	A	T	16: 45,660,889	W645R	probably damaging	Het
Tns1	T	C	1: 73,941,017	M1111V	probably benign	Het
Ttn	A	C	2: 76,778,382	D17763E	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubr4	G	A	4: 139,397,528		probably benign	Het
Usp31	T	C	7: 121,661,365	H637R	probably damaging	Het
Vps50	A	C	6: 3,567,739	E545A	possibly damaging	Het
Wdfy3	G	T	5: 101,872,858	L2527M	probably damaging	Het
Wfdc2	T	C	2: 164,563,434	V85A	possibly damaging	Het

Other mutations in Emc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Emc2	APN	15	43511749	missense	probably damaging	1.00
IGL02815:Emc2	APN	15	43507930	splice site	probably benign
IGL03211:Emc2	APN	15	43507672	nonsense	probably null
IGL03238:Emc2	APN	15	43507853	splice site	probably null
R0433:Emc2	UTSW	15	43497124	splice site	probably null
R1965:Emc2	UTSW	15	43527467	missense	probably damaging	1.00
R2373:Emc2	UTSW	15	43513758	missense	probably damaging	1.00
R2507:Emc2	UTSW	15	43511698	critical splice acceptor site	probably null
R4986:Emc2	UTSW	15	43511784	missense	probably benign	0.29
R5212:Emc2	UTSW	15	43510844	missense	probably damaging	1.00
R5751:Emc2	UTSW	15	43497057	splice site	probably null
R8136:Emc2	UTSW	15	43511806	missense	probably benign	0.07
R9242:Emc2	UTSW	15	43495243	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCATCAAGAGCTAGGGTGTG -3'
(R):5'- ATGTCAAACGGCAAGAATGTAC -3'

Sequencing Primer
(F):5'- CATCAAGAGCTAGGGTGTGTTTTAC -3'
(R):5'- ACGGCAAGAATGTACTAAAATTCAC -3'

Posted On

2016-09-06