Mutagenetix > Incidental Mutation

Incidental Mutation 'R1850:Emc1'

207990

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

MMRRC Submission

039874-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139352587-139378730 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 139359373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137103 (fasta)

Gene Model

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

AlphaFold

Q8C7X2

Predicted Effect

probably benign
Transcript: ENSMUST00000042096

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517

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

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517

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

noncoding transcript
Transcript: ENSMUST00000144335

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

probably benign
Transcript: ENSMUST00000155700

Predicted Effect

probably benign
Transcript: ENSMUST00000179784

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517

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: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4430402I18Rik	T	C	19: 28,939,171		probably null	Het
6030419C18Rik	A	T	9: 58,499,109	M101L	probably benign	Het
Adam28	T	A	14: 68,639,195	Q202L	probably benign	Het
Adgb	C	A	10: 10,442,502	V199F	probably damaging	Het
Aff1	G	T	5: 103,833,907	R645S	probably damaging	Het
Aoc1	C	T	6: 48,905,268	S48F	probably benign	Het
Atf6	A	T	1: 170,819,286	N339K	probably damaging	Het
Bpifb3	C	G	2: 153,929,344	S392C	possibly damaging	Het
Camk1d	T	C	2: 5,362,015	M130V	probably benign	Het
Ces1a	T	A	8: 93,027,326	N350Y	probably damaging	Het
Cfap57	G	A	4: 118,599,894	R453C	probably damaging	Het
Chd4	T	A	6: 125,121,656	N1532K	probably damaging	Het
Chd5	T	C	4: 152,370,533	L824P	probably damaging	Het
Ckap5	G	A	2: 91,595,713	R1306H	probably damaging	Het
Crybg1	A	G	10: 43,997,674	F1146S	probably damaging	Het
Dusp12	G	A	1: 170,880,629	T173M	probably benign	Het
Dync2h1	T	C	9: 7,001,448	T3854A	probably benign	Het
Echdc1	A	T	10: 29,344,603	I252F	probably damaging	Het
Fbn2	C	A	18: 58,039,305		probably benign	Het
Fsip2	T	A	2: 82,984,589	N3555K	possibly damaging	Het
Gabra1	T	A	11: 42,179,576	T20S	probably benign	Het
H2afy	T	C	13: 56,096,239		probably benign	Het
Igf1	A	C	10: 87,861,374	T2P	possibly damaging	Het
Jcad	C	A	18: 4,675,730	T1164N	possibly damaging	Het
Kalrn	A	T	16: 33,975,923	S2830T	probably damaging	Het
Lepr	C	A	4: 101,733,423	A66E	possibly damaging	Het
Lmntd1	T	A	6: 145,413,480	M315L	probably benign	Het
Lrch3	A	G	16: 32,986,793	T479A	probably benign	Het
Matr3	A	G	18: 35,582,057	N237D	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtif2	A	G	11: 29,540,683	I462M	probably benign	Het
Nrip1	T	C	16: 76,293,344	I442V	probably damaging	Het
Olfr1082	A	T	2: 86,594,104	C241*	probably null	Het
Olfr1415	T	A	1: 92,491,402	M118L	possibly damaging	Het
Olfr741	G	A	14: 50,485,598	A47T	probably benign	Het
Otogl	T	A	10: 107,878,064	Y498F	probably damaging	Het
Pbx3	A	T	2: 34,176,820	F351I	probably benign	Het
Pcdh18	T	C	3: 49,756,405	T154A	probably benign	Het
Pex5l	A	T	3: 32,950,876		probably null	Het
Plec	T	C	15: 76,188,232	I718V	probably benign	Het
Pparg	T	A	6: 115,450,980	Y143N	probably damaging	Het
Prl2c5	A	G	13: 13,185,792	I12V	probably benign	Het
Rcor3	T	A	1: 192,120,111	Q246L	probably benign	Het
Rnf214	A	T	9: 45,869,448		probably benign	Het
S1pr5	A	T	9: 21,244,129	S334T	probably benign	Het
Scg3	C	T	9: 75,682,167	S35N	possibly damaging	Het
Sept5	A	T	16: 18,625,210	L19Q	probably damaging	Het
Serpinb7	T	C	1: 107,428,295	F16S	probably damaging	Het
Sipa1l3	A	T	7: 29,339,126	S365R	probably damaging	Het
Slc27a1	T	C	8: 71,580,703		probably null	Het
Slc2a10	C	A	2: 165,515,213	H264Q	probably benign	Het
Slc9a3	A	G	13: 74,161,770	I526V	probably benign	Het
Smchd1	T	C	17: 71,389,771	D1203G	probably damaging	Het
Sult1b1	A	G	5: 87,520,841	W181R	probably damaging	Het
Supt6	A	G	11: 78,219,877		probably benign	Het
Tcf12	C	A	9: 71,868,215	A418S	probably damaging	Het
Tesk1	C	T	4: 43,443,576	R48C	probably damaging	Het
Tiam2	A	G	17: 3,437,235	Q677R	probably damaging	Het
Tspan8	C	T	10: 115,833,225	A55V	probably damaging	Het
Txndc11	T	C	16: 11,088,404	N421D	probably damaging	Het
Vmn1r201	A	G	13: 22,474,631	N5S	probably benign	Het
Vmn2r120	T	A	17: 57,525,826	I118L	probably benign	Het
Vps13b	A	T	15: 35,674,959		probably benign	Het
Wdfy3	A	G	5: 101,894,999	V1962A	probably damaging	Het
Zswim8	C	T	14: 20,710,747	R107*	probably null	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
R2024:Emc1	UTSW	4	139360946	missense	possibly damaging	0.95
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
R9610:Emc1	UTSW	4	139363724	missense	probably benign	0.38
R9611:Emc1	UTSW	4	139363724	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- CTTGGGAAAGCTCAGGTCTAAGG -3'
(R):5'- TAGATCTGAGTCGCTCTTCTGC -3'

Sequencing Primer
(F):5'- AGCTCAGGTCTAAGGGCTCAG -3'
(R):5'- CCCGGAAGAGCACACTTTG -3'

Posted On

2014-06-23