Mutagenetix > Incidental Mutation

Incidental Mutation 'R2024:Emc1'

220247

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

MMRRC Submission

040033-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R2024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139352587-139378730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139360946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 342 (E342K)

Ref Sequence

ENSEMBL: ENSMUSP00000137103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042096] [ENSMUST00000082262] [ENSMUST00000147999] [ENSMUST00000155700] [ENSMUST00000179784]

AlphaFold

Q8C7X2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042096
AA Change: E342K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: E342K

Domain	Start	End	E-Value	Type
Pfam:PQQ_2	21	258	5.3e-9	PFAM
Pfam:DUF1620	787	993	1.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082262
AA Change: E342K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: E342K

Domain	Start	End	E-Value	Type
Pfam:PQQ_2	21	258	4.7e-10	PFAM
Pfam:DUF1620	791	996	1.1e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147999

SMART Domains

Protein: ENSMUSP00000117419
Gene: ENSMUSG00000066036

Domain	Start	End	E-Value	Type
low complexity region	170	226	N/A	INTRINSIC
low complexity region	617	629	N/A	INTRINSIC
Pfam:E3_UbLigase_R4	1205	1301	4.5e-60	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155700
AA Change: E169K

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179784
AA Change: E342K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: E342K

Domain	Start	End	E-Value	Type
Pfam:PQQ_2	21	258	5.3e-9	PFAM
Pfam:DUF1620	790	996	1.1e-66	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 90.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,361,799	D280G	probably damaging	Het
Azi2	C	T	9: 118,049,322	R77*	probably null	Het
Chd8	T	C	14: 52,231,493	D556G	probably benign	Het
Cit	T	C	5: 115,947,924	M849T	probably damaging	Het
Cit	T	C	5: 116,005,840	S1923P	probably damaging	Het
Col17a1	T	A	19: 47,650,746	H1120L	probably benign	Het
Col6a5	G	T	9: 105,936,994	H606Q	unknown	Het
Dnajc2	A	C	5: 21,776,790	H45Q	probably damaging	Het
Dpp6	A	G	5: 27,709,459	D514G	possibly damaging	Het
Dync2h1	A	G	9: 7,129,062	S1818P	probably damaging	Het
Efemp1	A	T	11: 28,914,696	Y250F	possibly damaging	Het
Fam214a	A	G	9: 75,010,390	D757G	probably damaging	Het
Fam3c	T	C	6: 22,329,593	D45G	probably benign	Het
Fchsd2	A	C	7: 101,198,533	D210A	possibly damaging	Het
Flg	T	A	3: 93,279,415	M58K	probably damaging	Het
Gabra5	G	A	7: 57,488,950	R117C	probably damaging	Het
Gm6741	G	A	17: 91,236,881	S24N	probably benign	Het
Grin2a	T	C	16: 9,644,243	D675G	possibly damaging	Het
Hectd4	T	G	5: 121,281,918	V642G	possibly damaging	Het
Herc6	C	T	6: 57,583,332	T119M	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmgcs2	T	C	3: 98,299,214	S371P	probably damaging	Het
Idua	C	T	5: 108,680,734	A271V	probably damaging	Het
Inpp5d	T	A	1: 87,695,350	C125*	probably null	Het
Krt14	C	T	11: 100,207,218	G80R	unknown	Het
Lama5	T	C	2: 180,179,130	Y3176C	probably benign	Het
Lce1k	C	T	3: 92,806,502	C125Y	unknown	Het
Lig4	A	T	8: 9,972,436	L448Q	probably damaging	Het
Macf1	C	T	4: 123,371,918	A4821T	probably damaging	Het
Meioc	C	T	11: 102,675,358	A600V	probably benign	Het
Mepe	T	C	5: 104,327,091	S13P	possibly damaging	Het
Mms22l	A	G	4: 24,588,365	Y999C	probably damaging	Het
Ncbp3	T	A	11: 73,053,520	M116K	possibly damaging	Het
Ndufa10	A	G	1: 92,439,892	Y339H	probably damaging	Het
Nkx3-1	T	C	14: 69,190,817	I38T	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr1299	T	A	2: 111,664,823	M199K	possibly damaging	Het
Padi6	T	G	4: 140,728,968	I572L	possibly damaging	Het
Pdss2	A	T	10: 43,393,875	N238I	possibly damaging	Het
Pkd1l2	A	G	8: 117,019,533	V1906A	probably benign	Het
Pom121	T	C	5: 135,381,550		probably benign	Het
Psmd9	T	C	5: 123,241,862	F115L	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rai1	T	C	11: 60,185,589	F160L	probably damaging	Het
Rhbdl2	A	T	4: 123,826,872	R234S	probably damaging	Het
Rnase2a	T	A	14: 51,255,788	Y40F	probably damaging	Het
Setd2	T	C	9: 110,549,133	V672A	possibly damaging	Het
Sgpp2	A	G	1: 78,417,220	I287V	probably benign	Het
Sh3pxd2a	T	C	19: 47,267,264	E1033G	probably benign	Het
Slc5a9	G	A	4: 111,890,531	T284I	probably damaging	Het
Slfn9	A	G	11: 82,981,681	L743P	probably damaging	Het
Smchd1	T	A	17: 71,370,928	N1473I	probably benign	Het
Stx1b	A	T	7: 127,815,403	D16E	probably benign	Het
Tectb	T	C	19: 55,181,929	F71L	probably damaging	Het
Tmem220	T	C	11: 67,034,153	I138T	possibly damaging	Het
Tmtc4	T	C	14: 122,921,265	N682S	probably benign	Het
Tnc	A	G	4: 63,964,621	V1921A	probably damaging	Het
Ubn1	T	G	16: 5,064,623	L316W	probably damaging	Het
Vwa5a	T	C	9: 38,736,061	S579P	probably damaging	Het
Xdh	A	G	17: 73,921,305	L367P	possibly damaging	Het
Zfp280b	T	C	10: 76,038,494	L69S	probably damaging	Het
Zfp990	A	C	4: 145,537,404	Y324S	possibly damaging	Het

Other mutations in Emc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Emc1	APN	4	139355082	splice site	probably benign
IGL00898:Emc1	APN	4	139371630	missense	probably damaging	1.00
IGL01481:Emc1	APN	4	139362099	missense	probably benign	0.00
IGL02174:Emc1	APN	4	139371668	missense	possibly damaging	0.95
IGL02264:Emc1	APN	4	139375464	missense	probably damaging	1.00
IGL02501:Emc1	APN	4	139370984	missense	probably benign	0.00
IGL02697:Emc1	APN	4	139352644	missense	probably benign
IGL03355:Emc1	APN	4	139371593	splice site	probably benign
IGL03386:Emc1	APN	4	139363781	critical splice donor site	probably null
PIT4480001:Emc1	UTSW	4	139359277	missense	possibly damaging	0.69
R0023:Emc1	UTSW	4	139371009	missense	probably damaging	1.00
R0023:Emc1	UTSW	4	139371009	missense	probably damaging	1.00
R0051:Emc1	UTSW	4	139375163	missense	possibly damaging	0.81
R0094:Emc1	UTSW	4	139360485	missense	probably damaging	0.99
R0613:Emc1	UTSW	4	139375072	splice site	probably benign
R1464:Emc1	UTSW	4	139370937	missense	probably damaging	0.97
R1464:Emc1	UTSW	4	139370937	missense	probably damaging	0.97
R1512:Emc1	UTSW	4	139360184	splice site	probably null
R1702:Emc1	UTSW	4	139375201	missense	probably damaging	1.00
R1839:Emc1	UTSW	4	139360485	missense	probably damaging	0.98
R1843:Emc1	UTSW	4	139375512	missense	probably benign	0.02
R1850:Emc1	UTSW	4	139359373	splice site	probably benign
R2196:Emc1	UTSW	4	139366530	missense	probably benign	0.08
R2912:Emc1	UTSW	4	139365260	missense	possibly damaging	0.51
R3696:Emc1	UTSW	4	139365386	missense	possibly damaging	0.46
R3697:Emc1	UTSW	4	139365386	missense	possibly damaging	0.46
R3698:Emc1	UTSW	4	139365386	missense	possibly damaging	0.46
R3803:Emc1	UTSW	4	139367163	missense	possibly damaging	0.91
R3923:Emc1	UTSW	4	139363185	nonsense	probably null
R4738:Emc1	UTSW	4	139362202	missense	possibly damaging	0.52
R4914:Emc1	UTSW	4	139375165	nonsense	probably null
R5033:Emc1	UTSW	4	139371696	missense	probably damaging	1.00
R5322:Emc1	UTSW	4	139354246	missense	probably damaging	1.00
R5375:Emc1	UTSW	4	139366491	missense	probably damaging	0.96
R5483:Emc1	UTSW	4	139375376	missense	probably damaging	1.00
R5587:Emc1	UTSW	4	139362148	missense	probably damaging	0.98
R5687:Emc1	UTSW	4	139375380	missense	probably damaging	1.00
R5938:Emc1	UTSW	4	139357620	missense	probably benign
R6056:Emc1	UTSW	4	139354222	missense	possibly damaging	0.51
R6170:Emc1	UTSW	4	139366378	missense	probably benign	0.01
R6174:Emc1	UTSW	4	139366531	missense	probably benign	0.01
R6208:Emc1	UTSW	4	139354271	missense	probably damaging	0.99
R6340:Emc1	UTSW	4	139365563	missense	probably damaging	1.00
R6371:Emc1	UTSW	4	139371665	nonsense	probably null
R6889:Emc1	UTSW	4	139365350	missense	probably damaging	0.97
R7592:Emc1	UTSW	4	139360566	missense	probably benign	0.00
R7699:Emc1	UTSW	4	139354870	missense	probably benign
R7715:Emc1	UTSW	4	139371623	missense	probably damaging	1.00
R7984:Emc1	UTSW	4	139375449	missense	probably damaging	1.00
R8112:Emc1	UTSW	4	139367187	missense	probably benign	0.00
R8325:Emc1	UTSW	4	139365210	missense	possibly damaging	0.94
R8387:Emc1	UTSW	4	139361289	missense	probably benign
R8751:Emc1	UTSW	4	139369968	missense	possibly damaging	0.58
R9032:Emc1	UTSW	4	139367163	missense	possibly damaging	0.91
R9085:Emc1	UTSW	4	139367163	missense	possibly damaging	0.91
R9474:Emc1	UTSW	4	139366394	missense	probably damaging	0.98
R9482:Emc1	UTSW	4	139360890	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCGTGACTCTGCTTAAGAACTTC -3'
(R):5'- GGCTACATCAGGATCCTGTTCC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- ACATCAGGATCCTGTTCCTATTGAGG -3'

Posted On

2014-08-25