Mutagenetix > Incidental Mutation

Incidental Mutation 'R6056:Emc1'

484379

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

MMRRC Submission

044223-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6056 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

139079898-139106041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139081533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 54 (K54E)

Ref Sequence

ENSEMBL: ENSMUSP00000080888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030513] [ENSMUST00000042096] [ENSMUST00000082262] [ENSMUST00000102503] [ENSMUST00000179784] [ENSMUST00000147999] [ENSMUST00000155257]

AlphaFold

Q8C7X2

Predicted Effect

probably benign
Transcript: ENSMUST00000030513

SMART Domains

Protein: ENSMUSP00000030513
Gene: ENSMUSG00000028741

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L10	18	121	7.9e-23	PFAM
low complexity region	222	238	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042096
AA Change: K54E

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: K54E

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

possibly damaging
Transcript: ENSMUST00000082262
AA Change: K54E

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: K54E

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: ENSMUST00000102503

SMART Domains

Protein: ENSMUSP00000099561
Gene: ENSMUSG00000028741

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L10	18	121	4.6e-24	PFAM
low complexity region	223	239	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131052

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179784
AA Change: K54E

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: K54E

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

noncoding transcript
Transcript: ENSMUST00000139749

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: ENSMUST00000155257

SMART Domains

Protein: ENSMUSP00000121453
Gene: ENSMUSG00000028741

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L10	1	61	4.9e-13	PFAM

Meta Mutation Damage Score

0.4089

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

96% (99/103)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,115 (GRCm39)	W162R	probably benign	Het
4930438A08Rik	C	A	11: 58,184,464 (GRCm39)	P394H	probably damaging	Het
Aggf1	C	T	13: 95,508,123 (GRCm39)	C81Y	probably benign	Het
Agxt2	A	T	15: 10,378,963 (GRCm39)	D188V	probably damaging	Het
Angpt2	T	C	8: 18,748,132 (GRCm39)	K376R	probably benign	Het
Anxa5	A	G	3: 36,504,840 (GRCm39)	S241P	probably damaging	Het
Aox3	A	T	1: 58,209,018 (GRCm39)	K850N	probably damaging	Het
Arid5a	T	C	1: 36,358,473 (GRCm39)	M415T	probably benign	Het
Aspa	T	A	11: 73,199,578 (GRCm39)	N233I	probably damaging	Het
Atp4b	C	T	8: 13,438,782 (GRCm39)	R198Q	probably damaging	Het
Atp8b2	A	T	3: 89,853,528 (GRCm39)	V719E	possibly damaging	Het
Bltp2	C	A	11: 78,162,210 (GRCm39)	L691I	possibly damaging	Het
Cacna1s	T	G	1: 136,033,574 (GRCm39)	V1017G	probably damaging	Het
Chrna4	G	T	2: 180,671,235 (GRCm39)	Q174K	probably damaging	Het
Chrnb1	A	T	11: 69,677,765 (GRCm39)	V329D	probably damaging	Het
Chst14	T	C	2: 118,758,214 (GRCm39)	L336P	probably damaging	Het
Clec2e	T	C	6: 129,077,772 (GRCm39)	D22G	probably benign	Het
Csrnp2	A	C	15: 100,380,263 (GRCm39)	S343A	probably benign	Het
Dapl1	C	A	2: 59,315,057 (GRCm39)	A2E	probably damaging	Het
Dlec1	G	T	9: 118,950,991 (GRCm39)	R519L	probably damaging	Het
Dmgdh	T	A	13: 93,845,251 (GRCm39)	F415I	possibly damaging	Het
Dmgdh	T	C	13: 93,888,834 (GRCm39)	V824A	probably damaging	Het
Dnah11	T	G	12: 117,892,191 (GRCm39)	T3661P	probably benign	Het
Dnah3	A	G	7: 119,629,254 (GRCm39)	F1434L	probably damaging	Het
Dnajc11	C	A	4: 152,062,583 (GRCm39)		probably benign	Het
Dot1l	A	G	10: 80,621,929 (GRCm39)	E527G	probably damaging	Het
Drc7	T	C	8: 95,801,679 (GRCm39)	L680P	probably damaging	Het
Dysf	T	C	6: 84,083,844 (GRCm39)	Y742H	probably benign	Het
Ece1	A	G	4: 137,688,958 (GRCm39)	Y665C	probably damaging	Het
Enoph1	C	T	5: 100,215,760 (GRCm39)	T247M	probably damaging	Het
Exoc2	T	C	13: 31,084,812 (GRCm39)	K383R	probably benign	Het
Fam227b	A	T	2: 125,962,972 (GRCm39)	H181Q	probably damaging	Het
Fsip2	A	T	2: 82,816,017 (GRCm39)	M3917L	probably benign	Het
Gtf3a	T	A	5: 146,892,338 (GRCm39)		probably benign	Het
Hgfac	T	A	5: 35,198,973 (GRCm39)	C11*	probably null	Het
Hmcn1	C	A	1: 150,539,660 (GRCm39)	A2944S	probably damaging	Het
Hps5	T	A	7: 46,416,521 (GRCm39)	Y947F	probably benign	Het
Ighv2-5	A	T	12: 113,649,120 (GRCm39)	I111K	probably benign	Het
Inpp5e	A	T	2: 26,297,860 (GRCm39)	L247*	probably null	Het
Kbtbd11	T	C	8: 15,077,577 (GRCm39)	S59P	probably benign	Het
Kctd19	G	A	8: 106,123,082 (GRCm39)	H111Y	probably damaging	Het
Kif1a	T	C	1: 92,952,370 (GRCm39)	D1303G	probably damaging	Het
Kif7	A	G	7: 79,363,842 (GRCm39)	V22A	possibly damaging	Het
Lrit3	A	T	3: 129,583,004 (GRCm39)	C328S	probably damaging	Het
Lrrc37a	G	T	11: 103,388,484 (GRCm39)	Q2314K	unknown	Het
LTO1	G	T	7: 144,469,023 (GRCm39)	V17L	possibly damaging	Het
Lurap1	G	T	4: 115,994,599 (GRCm39)	P211T	possibly damaging	Het
Mbd2	T	A	18: 70,713,874 (GRCm39)	N5K	possibly damaging	Het
Mbtps1	A	C	8: 120,242,341 (GRCm39)	L894V	probably benign	Het
Mefv	G	A	16: 3,525,906 (GRCm39)	S787F	possibly damaging	Het
Miip	T	A	4: 147,946,792 (GRCm39)	I289F	probably damaging	Het
Mogat2	T	A	7: 98,872,720 (GRCm39)	I155F	possibly damaging	Het
Mpp3	C	A	11: 101,902,515 (GRCm39)		probably null	Het
Mrrf	A	G	2: 36,067,233 (GRCm39)	K220E	probably damaging	Het
Mtmr6	C	T	14: 60,535,619 (GRCm39)	P485L	probably damaging	Het
Mtor	G	A	4: 148,621,892 (GRCm39)	R1896K	probably benign	Het
Myh3	C	T	11: 66,978,371 (GRCm39)	P453S	probably benign	Het
Nebl	A	G	2: 17,455,045 (GRCm39)	V112A	probably benign	Het
Nmnat2	G	A	1: 152,950,480 (GRCm39)	W55*	probably null	Het
Nprl3	A	G	11: 32,217,432 (GRCm39)	S37P	probably damaging	Het
Or4a73	T	C	2: 89,421,445 (GRCm39)	N5D	possibly damaging	Het
Pcdhga4	T	G	18: 37,819,383 (GRCm39)	S311A	probably benign	Het
Pcdhgb6	T	C	18: 37,876,165 (GRCm39)	V291A	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,712,570 (GRCm39)	E884G	probably damaging	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Phf12	A	G	11: 77,900,341 (GRCm39)	T146A	probably benign	Het
Polr3k	C	G	2: 181,506,281 (GRCm39)	N10K	probably damaging	Het
Prickle4	C	A	17: 48,001,135 (GRCm39)	G144C	probably damaging	Het
Ptpn6	T	C	6: 124,709,398 (GRCm39)	Y25C	probably damaging	Het
Rad1	A	G	15: 10,488,160 (GRCm39)	I95V	probably damaging	Het
Rad23b	A	G	4: 55,382,540 (GRCm39)	T248A	probably benign	Het
Rapgef3	T	C	15: 97,656,742 (GRCm39)	D299G	probably damaging	Het
Rcc2	T	G	4: 140,444,335 (GRCm39)	V342G	possibly damaging	Het
Rgs3	G	T	4: 62,544,143 (GRCm39)	R136L	probably damaging	Het
Scube2	A	T	7: 109,432,220 (GRCm39)	C399*	probably null	Het
Serpinb3d	T	C	1: 107,007,452 (GRCm39)	Y178C	probably damaging	Het
Slc1a7	A	G	4: 107,869,458 (GRCm39)	T508A	probably benign	Het
Slc29a4	C	T	5: 142,705,832 (GRCm39)	R439C	probably damaging	Het
Sntg2	A	G	12: 30,362,560 (GRCm39)	I62T	probably benign	Het
Sowaha	G	A	11: 53,369,914 (GRCm39)	P274L	probably damaging	Het
Sptan1	A	G	2: 29,886,794 (GRCm39)	N869S	probably benign	Het
Stx18	C	A	5: 38,263,908 (GRCm39)	A64D	probably damaging	Het
Stxbp5	A	G	10: 9,646,430 (GRCm39)	V94A	probably benign	Het
Sult1a1	T	A	7: 126,275,624 (GRCm39)		probably null	Het
Susd1	G	T	4: 59,379,687 (GRCm39)	H313Q	possibly damaging	Het
Tdrd9	A	T	12: 111,951,475 (GRCm39)	K88N	probably damaging	Het
Tlr5	A	C	1: 182,801,603 (GRCm39)	R302S	possibly damaging	Het
Tnr	C	T	1: 159,714,479 (GRCm39)	T786I	probably damaging	Het
Tprg1l	A	G	4: 154,244,552 (GRCm39)	S148P	probably damaging	Het
Trpc4ap	T	A	2: 155,512,994 (GRCm39)	N127I	probably damaging	Het
Tulp2	T	A	7: 45,139,797 (GRCm39)		probably null	Het
Uggt2	C	T	14: 119,273,381 (GRCm39)		probably null	Het
Ulk4	T	A	9: 121,102,021 (GRCm39)	Y19F	probably damaging	Het
Upf1	T	C	8: 70,785,687 (GRCm39)	Y1053C	probably damaging	Het
Vars2	A	T	17: 35,976,680 (GRCm39)	H223Q	probably benign	Het
Vmn2r106	T	A	17: 20,487,806 (GRCm39)		probably null	Het
Ythdc2	T	A	18: 44,973,277 (GRCm39)	F305I	probably damaging	Het
Zfp281	T	C	1: 136,553,178 (GRCm39)	F52S	possibly damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp335	A	T	2: 164,737,018 (GRCm39)		probably null	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
R1512:Emc1	UTSW	4	139,087,495 (GRCm39)	splice site	probably null
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
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'- TCTGAGTACGTTGCACAGAACTC -3'
(R):5'- AAGGCAGTGCGACAAATTTACC -3'

Posted On

2017-07-14