Mutagenetix > Incidental Mutation

Incidental Mutation 'R1512:Emc1'

168403

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

MMRRC Submission

039559-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R1512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139079898-139106041 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 139087495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137103 (fasta)

Gene Model

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

AlphaFold

Q8C7X2

Predicted Effect

probably null
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 null
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 null
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

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 null
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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

95% (79/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,086,295 (GRCm39)	D40E	probably benign	Het
Acsf2	C	T	11: 94,452,224 (GRCm39)		probably benign	Het
Adamts19	C	T	18: 59,181,917 (GRCm39)	H1119Y	possibly damaging	Het
Akap6	A	G	12: 52,983,937 (GRCm39)	D827G	probably damaging	Het
Ankrd33b	T	C	15: 31,367,375 (GRCm39)	D55G	probably damaging	Het
Ano5	T	A	7: 51,229,316 (GRCm39)	H569Q	probably benign	Het
Aox1	A	G	1: 58,346,510 (GRCm39)	D548G	probably benign	Het
Baz2a	A	G	10: 127,960,021 (GRCm39)	D1433G	possibly damaging	Het
BC031181	T	G	18: 75,141,767 (GRCm39)	V8G	probably damaging	Het
Bicdl2	A	T	17: 23,887,083 (GRCm39)	M457L	probably damaging	Het
C130074G19Rik	T	C	1: 184,615,103 (GRCm39)	D29G	probably damaging	Het
Cd200r1	A	T	16: 44,586,390 (GRCm39)	T7S	probably benign	Het
Cdc37	A	G	9: 21,053,712 (GRCm39)		probably benign	Het
Cmtr2	T	C	8: 110,949,267 (GRCm39)	S526P	probably damaging	Het
Cntn2	G	T	1: 132,451,430 (GRCm39)	A433D	probably damaging	Het
Cntnap5a	T	C	1: 115,828,680 (GRCm39)	S35P	probably benign	Het
Csf3r	A	G	4: 125,923,777 (GRCm39)	T96A	possibly damaging	Het
Ctbs	A	G	3: 146,160,720 (GRCm39)	N96D	probably benign	Het
Cyp26b1	C	A	6: 84,553,979 (GRCm39)	V213L	probably benign	Het
Dach1	A	G	14: 98,138,835 (GRCm39)	L536P	probably damaging	Het
Dcaf6	T	C	1: 165,179,589 (GRCm39)	Q517R	probably benign	Het
Dnah1	G	T	14: 31,014,994 (GRCm39)	Q1733K	probably damaging	Het
Dnah17	A	T	11: 117,985,841 (GRCm39)	I1416N	probably benign	Het
Dock11	G	A	X: 35,283,688 (GRCm39)	R1102H	probably damaging	Het
Dpp8	T	C	9: 64,971,096 (GRCm39)		probably benign	Het
Emc8	A	G	8: 121,384,983 (GRCm39)	L76P	possibly damaging	Het
Emx2	T	C	19: 59,448,035 (GRCm39)	Y130H	possibly damaging	Het
Fbf1	C	T	11: 116,038,753 (GRCm39)	R815Q	probably damaging	Het
Foxb2	G	A	19: 16,849,878 (GRCm39)	P376L	probably damaging	Het
Gabrb1	C	A	5: 72,266,047 (GRCm39)	L202I	probably damaging	Het
Gabrb1	T	A	5: 72,266,048 (GRCm39)	L202Q	probably damaging	Het
Grin2c	T	A	11: 115,144,676 (GRCm39)	I617F	probably damaging	Het
Gtf2h3	T	A	5: 124,728,933 (GRCm39)	V164E	probably damaging	Het
Gusb	T	C	5: 130,029,731 (GRCm39)	Q88R	probably damaging	Het
Hormad2	T	A	11: 4,374,788 (GRCm39)	K75N	probably damaging	Het
Il33	A	G	19: 29,929,390 (GRCm39)	T38A	possibly damaging	Het
Ivns1abp	A	T	1: 151,236,687 (GRCm39)	Q416L	possibly damaging	Het
Ivns1abp	G	C	1: 151,236,688 (GRCm39)	Q416H	probably benign	Het
Kcnh5	T	A	12: 75,166,711 (GRCm39)	H178L	probably benign	Het
Kif21b	A	G	1: 136,080,543 (GRCm39)	N579S	probably benign	Het
Kif26a	G	C	12: 112,113,389 (GRCm39)	R95P	possibly damaging	Het
Kl	A	G	5: 150,912,062 (GRCm39)	I604V	probably benign	Het
Klhl24	A	G	16: 19,941,686 (GRCm39)	K545E	probably damaging	Het
Mcm3ap	A	G	10: 76,306,347 (GRCm39)	I153M	probably damaging	Het
Meis1	T	G	11: 18,831,682 (GRCm39)	D452A	probably damaging	Het
Msantd4	C	T	9: 4,384,138 (GRCm39)	P153L	probably benign	Het
Myot	A	G	18: 44,475,422 (GRCm39)	E181G	probably damaging	Het
Nf1	T	C	11: 79,281,195 (GRCm39)	F150S	probably damaging	Het
Nyap2	T	A	1: 81,219,566 (GRCm39)	S529R	probably damaging	Het
Or10d3	T	C	9: 39,461,390 (GRCm39)	Y259C	probably damaging	Het
Or12e10	A	T	2: 87,640,988 (GRCm39)	T275S	probably benign	Het
Or2y1c	A	G	11: 49,361,286 (GRCm39)	I103V	probably benign	Het
Or8b56	T	A	9: 38,739,660 (GRCm39)	Y224*	probably null	Het
Pcnt	C	T	10: 76,240,496 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,455,289 (GRCm39)		probably null	Het
Pkdcc	A	T	17: 83,527,473 (GRCm39)	Y217F	possibly damaging	Het
Pnpla6	C	A	8: 3,585,459 (GRCm39)		probably benign	Het
Polr3gl	T	C	3: 96,488,190 (GRCm39)	M26V	probably benign	Het
Ppp1r13b	T	C	12: 111,838,842 (GRCm39)	N12S	possibly damaging	Het
Ppp1r26	G	A	2: 28,341,528 (GRCm39)	R386K	probably benign	Het
Prdm10	A	G	9: 31,248,697 (GRCm39)	E355G	probably damaging	Het
Prex2	T	C	1: 11,131,554 (GRCm39)	F41S	possibly damaging	Het
Prkar1b	G	T	5: 139,036,428 (GRCm39)	Y231*	probably null	Het
Prkdc	A	T	16: 15,505,268 (GRCm39)	I857L	probably benign	Het
Psg21	A	T	7: 18,390,425 (GRCm39)	N10K	probably benign	Het
Rapgef3	A	T	15: 97,655,382 (GRCm39)	V444E	probably benign	Het
Rnf17	A	T	14: 56,705,243 (GRCm39)	T716S	probably benign	Het
Rps6ka1	C	T	4: 133,578,315 (GRCm39)	R577H	probably damaging	Het
Scn1a	A	C	2: 66,161,629 (GRCm39)	N306K	possibly damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Ssu2	A	G	6: 112,364,959 (GRCm39)	M1T	probably null	Het
Stag3	A	T	5: 138,296,247 (GRCm39)	T437S	probably benign	Het
Tal2	A	G	4: 53,786,107 (GRCm39)	Y96C	probably benign	Het
Thoc3	A	T	13: 54,613,991 (GRCm39)		probably null	Het
Tle1	T	C	4: 72,059,495 (GRCm39)	D19G	probably damaging	Het
Trpm4	A	G	7: 44,964,468 (GRCm39)	I690T	probably benign	Het
Trpm6	A	T	19: 18,853,295 (GRCm39)	M1772L	probably benign	Het
Unc5b	G	A	10: 60,667,254 (GRCm39)		probably benign	Het
Usf3	G	T	16: 44,041,561 (GRCm39)	V2014F	probably damaging	Het
Utp18	C	T	11: 93,776,390 (GRCm39)	A32T	probably benign	Het
Wdfy4	A	G	14: 32,682,765 (GRCm39)	V2981A	probably damaging	Het
Zfp608	A	G	18: 55,079,738 (GRCm39)	V349A	probably damaging	Het
Znfx1	A	C	2: 166,898,237 (GRCm39)	I229S	probably benign	Het

Other mutations in Emc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Emc1	APN	4	139,082,393 (GRCm39)	splice site	probably benign
IGL00898:Emc1	APN	4	139,098,941 (GRCm39)	missense	probably damaging	1.00
IGL01481:Emc1	APN	4	139,089,410 (GRCm39)	missense	probably benign	0.00
IGL02174:Emc1	APN	4	139,098,979 (GRCm39)	missense	possibly damaging	0.95
IGL02264:Emc1	APN	4	139,102,775 (GRCm39)	missense	probably damaging	1.00
IGL02501:Emc1	APN	4	139,098,295 (GRCm39)	missense	probably benign	0.00
IGL02697:Emc1	APN	4	139,079,955 (GRCm39)	missense	probably benign
IGL03355:Emc1	APN	4	139,098,904 (GRCm39)	splice site	probably benign
IGL03386:Emc1	APN	4	139,091,092 (GRCm39)	critical splice donor site	probably null
PIT4480001:Emc1	UTSW	4	139,086,588 (GRCm39)	missense	possibly damaging	0.69
R0023:Emc1	UTSW	4	139,098,320 (GRCm39)	missense	probably damaging	1.00
R0023:Emc1	UTSW	4	139,098,320 (GRCm39)	missense	probably damaging	1.00
R0051:Emc1	UTSW	4	139,102,474 (GRCm39)	missense	possibly damaging	0.81
R0094:Emc1	UTSW	4	139,087,796 (GRCm39)	missense	probably damaging	0.99
R0613:Emc1	UTSW	4	139,102,383 (GRCm39)	splice site	probably benign
R1464:Emc1	UTSW	4	139,098,248 (GRCm39)	missense	probably damaging	0.97
R1464:Emc1	UTSW	4	139,098,248 (GRCm39)	missense	probably damaging	0.97
R1702:Emc1	UTSW	4	139,102,512 (GRCm39)	missense	probably damaging	1.00
R1839:Emc1	UTSW	4	139,087,796 (GRCm39)	missense	probably damaging	0.98
R1843:Emc1	UTSW	4	139,102,823 (GRCm39)	missense	probably benign	0.02
R1850:Emc1	UTSW	4	139,086,684 (GRCm39)	splice site	probably benign
R2024:Emc1	UTSW	4	139,088,257 (GRCm39)	missense	possibly damaging	0.95
R2196:Emc1	UTSW	4	139,093,841 (GRCm39)	missense	probably benign	0.08
R2912:Emc1	UTSW	4	139,092,571 (GRCm39)	missense	possibly damaging	0.51
R3696:Emc1	UTSW	4	139,092,697 (GRCm39)	missense	possibly damaging	0.46
R3697:Emc1	UTSW	4	139,092,697 (GRCm39)	missense	possibly damaging	0.46
R3698:Emc1	UTSW	4	139,092,697 (GRCm39)	missense	possibly damaging	0.46
R3803:Emc1	UTSW	4	139,094,474 (GRCm39)	missense	possibly damaging	0.91
R3923:Emc1	UTSW	4	139,090,496 (GRCm39)	nonsense	probably null
R4738:Emc1	UTSW	4	139,089,513 (GRCm39)	missense	possibly damaging	0.52
R4914:Emc1	UTSW	4	139,102,476 (GRCm39)	nonsense	probably null
R5033:Emc1	UTSW	4	139,099,007 (GRCm39)	missense	probably damaging	1.00
R5322:Emc1	UTSW	4	139,081,557 (GRCm39)	missense	probably damaging	1.00
R5375:Emc1	UTSW	4	139,093,802 (GRCm39)	missense	probably damaging	0.96
R5483:Emc1	UTSW	4	139,102,687 (GRCm39)	missense	probably damaging	1.00
R5587:Emc1	UTSW	4	139,089,459 (GRCm39)	missense	probably damaging	0.98
R5687:Emc1	UTSW	4	139,102,691 (GRCm39)	missense	probably damaging	1.00
R5938:Emc1	UTSW	4	139,084,931 (GRCm39)	missense	probably benign
R6056:Emc1	UTSW	4	139,081,533 (GRCm39)	missense	possibly damaging	0.51
R6170:Emc1	UTSW	4	139,093,689 (GRCm39)	missense	probably benign	0.01
R6174:Emc1	UTSW	4	139,093,842 (GRCm39)	missense	probably benign	0.01
R6208:Emc1	UTSW	4	139,081,582 (GRCm39)	missense	probably damaging	0.99
R6340:Emc1	UTSW	4	139,092,874 (GRCm39)	missense	probably damaging	1.00
R6371:Emc1	UTSW	4	139,098,976 (GRCm39)	nonsense	probably null
R6889:Emc1	UTSW	4	139,092,661 (GRCm39)	missense	probably damaging	0.97
R7592:Emc1	UTSW	4	139,087,877 (GRCm39)	missense	probably benign	0.00
R7699:Emc1	UTSW	4	139,082,181 (GRCm39)	missense	probably benign
R7715:Emc1	UTSW	4	139,098,934 (GRCm39)	missense	probably damaging	1.00
R7984:Emc1	UTSW	4	139,102,760 (GRCm39)	missense	probably damaging	1.00
R8112:Emc1	UTSW	4	139,094,498 (GRCm39)	missense	probably benign	0.00
R8325:Emc1	UTSW	4	139,092,521 (GRCm39)	missense	possibly damaging	0.94
R8387:Emc1	UTSW	4	139,088,600 (GRCm39)	missense	probably benign
R8751:Emc1	UTSW	4	139,097,279 (GRCm39)	missense	possibly damaging	0.58
R9032:Emc1	UTSW	4	139,094,474 (GRCm39)	missense	possibly damaging	0.91
R9085:Emc1	UTSW	4	139,094,474 (GRCm39)	missense	possibly damaging	0.91
R9474:Emc1	UTSW	4	139,093,705 (GRCm39)	missense	probably damaging	0.98
R9482:Emc1	UTSW	4	139,088,201 (GRCm39)	missense	probably damaging	0.96
R9610:Emc1	UTSW	4	139,091,035 (GRCm39)	missense	probably benign	0.38
R9611:Emc1	UTSW	4	139,091,035 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- ATCTCTCCACAGGTCAGGGTTTGG -3'
(R):5'- AGAGTGAACAGTTTACCCCTCCCG -3'

Sequencing Primer
(F):5'- TAGATGAGGCTGTCCTGGT -3'
(R):5'- ACCATCAAGACTAGGTTGTCTGC -3'

Posted On

2014-04-13