Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:Emc1'

200932

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

MMRRC Submission

039518-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139079898-139106041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139098248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 740 (N740S)

Ref Sequence

ENSEMBL: ENSMUSP00000049034 (fasta)

Gene Model

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

AlphaFold

Q8C7X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000042096
AA Change: N740S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: N740S

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 damaging
Transcript: ENSMUST00000082262
AA Change: N743S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: N743S

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

possibly damaging
Transcript: ENSMUST00000179784
AA Change: N743S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: N743S

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: 95.0%
20x: 91.7%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	A	G	12: 31,234,914 (GRCm39)		noncoding transcript	Het
Abca2	T	G	2: 25,337,846 (GRCm39)		probably benign	Het
Adamts8	T	A	9: 30,862,673 (GRCm39)	W86R	probably benign	Het
Adh1	A	G	3: 137,994,508 (GRCm39)		probably null	Het
Adipor2	A	T	6: 119,338,804 (GRCm39)	W150R	probably damaging	Het
Aff4	T	A	11: 53,263,351 (GRCm39)	S124T	probably damaging	Het
Ahnak	G	T	19: 8,982,260 (GRCm39)	K1181N	probably damaging	Het
Ak2	C	A	4: 128,896,152 (GRCm39)		probably benign	Het
Alkbh5	A	G	11: 60,429,873 (GRCm39)	I209V	probably benign	Het
Ankrd11	T	C	8: 123,619,463 (GRCm39)	E1442G	probably damaging	Het
Apba2	T	A	7: 64,345,297 (GRCm39)	D162E	probably benign	Het
Asic3	G	A	5: 24,618,819 (GRCm39)	G37E	probably damaging	Het
AU040320	A	T	4: 126,685,824 (GRCm39)	K133N	possibly damaging	Het
C1qtnf7	A	G	5: 43,766,481 (GRCm39)	S34G	probably benign	Het
Carf	A	G	1: 60,165,065 (GRCm39)		probably benign	Het
Ccdc148	T	A	2: 58,796,374 (GRCm39)	R463*	probably null	Het
Ccdc148	T	C	2: 58,824,455 (GRCm39)	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,576,263 (GRCm39)	I142T	probably benign	Het
Cd274	T	C	19: 29,359,992 (GRCm39)		probably benign	Het
Chrna10	G	A	7: 101,763,454 (GRCm39)	P114S	probably damaging	Het
Chst10	A	G	1: 38,904,772 (GRCm39)	I311T	probably damaging	Het
Cpne9	T	C	6: 113,271,698 (GRCm39)	Y353H	probably damaging	Het
Cubn	G	T	2: 13,330,099 (GRCm39)	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,903,827 (GRCm39)	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,671,478 (GRCm39)	T117A	probably damaging	Het
Ddah1	A	T	3: 145,559,029 (GRCm39)	K96*	probably null	Het
Ddx5	A	C	11: 106,675,711 (GRCm39)	D326E	probably benign	Het
Dlg2	T	C	7: 91,617,406 (GRCm39)	S323P	probably damaging	Het
Dnaaf1	C	T	8: 120,306,049 (GRCm39)	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,914,147 (GRCm39)	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,091,366 (GRCm39)	T642A	probably benign	Het
Dnajc18	A	G	18: 35,813,900 (GRCm39)	S290P	possibly damaging	Het
Dscam	T	A	16: 96,602,453 (GRCm39)	H663L	possibly damaging	Het
Eefsec	C	T	6: 88,353,182 (GRCm39)		probably benign	Het
Enpp2	C	T	15: 54,727,208 (GRCm39)	G541D	probably damaging	Het
Fam234b	C	T	6: 135,205,490 (GRCm39)	T485I	probably benign	Het
Fbxl13	A	T	5: 21,688,989 (GRCm39)	I773K	probably benign	Het
Fmo4	A	G	1: 162,621,924 (GRCm39)	F429S	possibly damaging	Het
Fndc3b	A	G	3: 27,494,334 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,930,116 (GRCm39)	S277G	probably damaging	Het
Gaa	A	G	11: 119,163,810 (GRCm39)	I221V	probably benign	Het
Gnptab	A	G	10: 88,281,616 (GRCm39)		probably benign	Het
Gphn	T	A	12: 78,659,738 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,881,447 (GRCm39)	E345G	probably damaging	Het
Ifna4	G	T	4: 88,760,237 (GRCm39)	R47I	probably damaging	Het
Igsf21	C	A	4: 139,761,836 (GRCm39)	A281S	probably benign	Het
Ikzf3	T	A	11: 98,407,731 (GRCm39)	I37L	probably benign	Het
Inpp5d	A	T	1: 87,625,827 (GRCm39)		probably benign	Het
Jag1	T	C	2: 136,957,568 (GRCm39)	E48G	probably damaging	Het
Jarid2	G	T	13: 45,001,857 (GRCm39)	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,369,605 (GRCm39)	L125P	probably damaging	Het
Kif21b	A	G	1: 136,083,891 (GRCm39)	K713E	possibly damaging	Het
Layn	T	A	9: 50,968,886 (GRCm39)	S286C	probably damaging	Het
Lepr	T	A	4: 101,592,878 (GRCm39)	D164E	probably benign	Het
Macroh2a1	A	T	13: 56,230,949 (GRCm39)	S310T	probably damaging	Het
Map3k1	T	C	13: 111,892,405 (GRCm39)	H950R	possibly damaging	Het
Map4k5	C	A	12: 69,852,124 (GRCm39)	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 119,851,742 (GRCm39)	S895T	probably benign	Het
Mthfr	T	A	4: 148,138,029 (GRCm39)		probably benign	Het
Naca	T	A	10: 127,884,157 (GRCm39)	M2157K	probably damaging	Het
Nav2	T	C	7: 49,011,952 (GRCm39)	I61T	probably damaging	Het
Nkx2-5	C	A	17: 27,058,253 (GRCm39)	A234S	probably benign	Het
Nol8	G	A	13: 49,830,264 (GRCm39)	S1116N	probably benign	Het
Nphp3	T	C	9: 103,909,078 (GRCm39)		probably benign	Het
Nppa	T	C	4: 148,085,304 (GRCm39)	S5P	probably benign	Het
Nup210	A	G	6: 91,030,551 (GRCm39)	V123A	possibly damaging	Het
Or13a21	G	T	7: 139,999,286 (GRCm39)	N133K	probably benign	Het
Osbpl11	A	G	16: 33,049,455 (GRCm39)	K604R	probably damaging	Het
Osbpl1a	C	T	18: 13,047,615 (GRCm39)	S113N	probably benign	Het
P2rx4	C	A	5: 122,852,602 (GRCm39)	P92Q	probably damaging	Het
Pde9a	A	T	17: 31,692,136 (GRCm39)	Q148L	probably benign	Het
Phf21b	T	A	15: 84,689,160 (GRCm39)	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,515,990 (GRCm39)	F977I	probably damaging	Het
Pkd1l3	A	G	8: 110,363,059 (GRCm39)		probably benign	Het
Potefam1	A	G	2: 111,055,748 (GRCm39)		probably null	Het
Pp2d1	T	G	17: 53,823,015 (GRCm39)	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,843,527 (GRCm39)	E415G	probably damaging	Het
Pramel19	T	A	4: 101,798,503 (GRCm39)	L158Q	probably damaging	Het
Prkg1	A	G	19: 30,556,270 (GRCm39)	S559P	probably damaging	Het
Prss45	A	T	9: 110,670,019 (GRCm39)	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,883,517 (GRCm39)	N849K	probably damaging	Het
Rnf121	A	G	7: 101,680,782 (GRCm39)	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,699,368 (GRCm39)	N502S	probably damaging	Het
Sap25	T	A	5: 137,640,622 (GRCm39)	Y167*	probably null	Het
Sdk2	G	A	11: 113,720,906 (GRCm39)	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,792,896 (GRCm39)	V302A	probably benign	Het
Skor1	T	A	9: 63,047,393 (GRCm39)	M865L	possibly damaging	Het
Slc25a45	T	C	19: 5,929,928 (GRCm39)		probably benign	Het
Slc2a3	A	G	6: 122,714,269 (GRCm39)		probably benign	Het
Slc35g1	C	A	19: 38,391,665 (GRCm39)	L316I	probably benign	Het
Slco1a8	C	T	6: 141,938,243 (GRCm39)	W225*	probably null	Het
Spint4	T	A	2: 164,540,568 (GRCm39)	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,389,154 (GRCm39)	D178V	probably benign	Het
Stoml1	A	G	9: 58,167,709 (GRCm39)		probably benign	Het
Tbc1d2	T	A	4: 46,606,491 (GRCm39)	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,400,197 (GRCm39)		probably null	Het
Teddm2	C	T	1: 153,726,277 (GRCm39)	W146*	probably null	Het
Ttn	T	A	2: 76,589,338 (GRCm39)	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274 (GRCm39)	T102A	probably damaging	Het
Uxs1	G	A	1: 43,804,076 (GRCm39)	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,204,681 (GRCm39)	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,463,348 (GRCm39)	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,242,217 (GRCm39)	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,200,914 (GRCm39)	L137F	probably benign	Het
Vmn2r105	G	A	17: 20,449,004 (GRCm39)		probably benign	Het
Vps13b	C	T	15: 35,709,630 (GRCm39)	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,415,019 (GRCm39)	H347R	probably benign	Het
Wnk2	G	A	13: 49,235,451 (GRCm39)	P655S	probably damaging	Het
Zan	T	G	5: 137,418,191 (GRCm39)	D2969A	unknown	Het
Zbtb24	A	G	10: 41,331,075 (GRCm39)	H334R	probably damaging	Het
Zfp108	A	G	7: 23,959,973 (GRCm39)	D188G	probably benign	Het
Zfp784	A	T	7: 5,038,800 (GRCm39)	C253S	possibly damaging	Het
Zfr	T	G	15: 12,146,458 (GRCm39)	C336W	probably damaging	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
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
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'- TGCATCATAGGGCTTCTGAGAGGAC -3'
(R):5'- GCTGTTTCCAGAAAGGACATGCGAC -3'

Sequencing Primer
(F):5'- GGACACACTAGGCGTTCAG -3'
(R):5'- ACATGCGACTTGGGGAC -3'

Posted On

2014-05-23