Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03386:Emc1'

420883

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL03386

Quality Score

Status

Chromosome

Chromosomal Location

139352587-139378730 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 139363781 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 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

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI481877	T	C	4: 59,069,315 (GRCm38)	K704E	possibly damaging	Het
Arid2	T	C	15: 96,361,574 (GRCm38)	F236L	probably damaging	Het
AU018091	T	C	7: 3,161,267 (GRCm38)	Y274C	probably damaging	Het
BC024139	A	G	15: 76,121,745 (GRCm38)	F419L	probably benign	Het
Cd300ld	T	G	11: 114,984,172 (GRCm38)	D212A	probably benign	Het
Ces1g	T	C	8: 93,325,812 (GRCm38)	H283R	probably benign	Het
Chac2	T	A	11: 30,977,720 (GRCm38)	K66N	probably benign	Het
Eml6	G	A	11: 29,749,934 (GRCm38)	A1734V	probably benign	Het
Erich3	G	A	3: 154,739,239 (GRCm38)	E548K	possibly damaging	Het
Gm3604	T	A	13: 62,370,167 (GRCm38)	E105D	possibly damaging	Het
Gpr158	A	G	2: 21,826,246 (GRCm38)	K719R	probably damaging	Het
Heatr6	T	C	11: 83,759,377 (GRCm38)	S220P	probably damaging	Het
Kcnip4	T	C	5: 48,482,547 (GRCm38)	Y74C	probably damaging	Het
Kmt2b	T	C	7: 30,573,971 (GRCm38)	H2380R	possibly damaging	Het
Lars2	A	T	9: 123,453,390 (GRCm38)	K680*	probably null	Het
Macc1	T	A	12: 119,445,863 (GRCm38)	M122K	probably benign	Het
Pbrm1	A	G	14: 31,050,092 (GRCm38)	D381G	probably damaging	Het
Phf11d	A	G	14: 59,361,860 (GRCm38)		probably benign	Het
Qrsl1	A	G	10: 43,876,550 (GRCm38)	Y426H	possibly damaging	Het
Riok1	T	A	13: 38,057,237 (GRCm38)	L456*	probably null	Het
Rps6kc1	A	G	1: 190,799,570 (GRCm38)	L745P	probably damaging	Het
Sh3tc2	A	T	18: 61,973,311 (GRCm38)	H137L	probably benign	Het
Shroom3	T	A	5: 92,948,483 (GRCm38)		probably benign	Het
Stac2	T	A	11: 98,041,140 (GRCm38)	Q103L	possibly damaging	Het
Thnsl1	G	A	2: 21,211,548 (GRCm38)	A38T	probably benign	Het
Traf3ip2	A	G	10: 39,645,708 (GRCm38)	I421V	probably benign	Het
Vmn2r14	T	C	5: 109,220,484 (GRCm38)	D214G	possibly damaging	Het

Other mutations in Emc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Emc1	APN	4	139,355,082 (GRCm38)	splice site	probably benign
IGL00898:Emc1	APN	4	139,371,630 (GRCm38)	missense	probably damaging	1.00
IGL01481:Emc1	APN	4	139,362,099 (GRCm38)	missense	probably benign	0.00
IGL02174:Emc1	APN	4	139,371,668 (GRCm38)	missense	possibly damaging	0.95
IGL02264:Emc1	APN	4	139,375,464 (GRCm38)	missense	probably damaging	1.00
IGL02501:Emc1	APN	4	139,370,984 (GRCm38)	missense	probably benign	0.00
IGL02697:Emc1	APN	4	139,352,644 (GRCm38)	missense	probably benign
IGL03355:Emc1	APN	4	139,371,593 (GRCm38)	splice site	probably benign
PIT4480001:Emc1	UTSW	4	139,359,277 (GRCm38)	missense	possibly damaging	0.69
R0023:Emc1	UTSW	4	139,371,009 (GRCm38)	missense	probably damaging	1.00
R0023:Emc1	UTSW	4	139,371,009 (GRCm38)	missense	probably damaging	1.00
R0051:Emc1	UTSW	4	139,375,163 (GRCm38)	missense	possibly damaging	0.81
R0094:Emc1	UTSW	4	139,360,485 (GRCm38)	missense	probably damaging	0.99
R0613:Emc1	UTSW	4	139,375,072 (GRCm38)	splice site	probably benign
R1464:Emc1	UTSW	4	139,370,937 (GRCm38)	missense	probably damaging	0.97
R1464:Emc1	UTSW	4	139,370,937 (GRCm38)	missense	probably damaging	0.97
R1512:Emc1	UTSW	4	139,360,184 (GRCm38)	splice site	probably null
R1702:Emc1	UTSW	4	139,375,201 (GRCm38)	missense	probably damaging	1.00
R1839:Emc1	UTSW	4	139,360,485 (GRCm38)	missense	probably damaging	0.98
R1843:Emc1	UTSW	4	139,375,512 (GRCm38)	missense	probably benign	0.02
R1850:Emc1	UTSW	4	139,359,373 (GRCm38)	splice site	probably benign
R2024:Emc1	UTSW	4	139,360,946 (GRCm38)	missense	possibly damaging	0.95
R2196:Emc1	UTSW	4	139,366,530 (GRCm38)	missense	probably benign	0.08
R2912:Emc1	UTSW	4	139,365,260 (GRCm38)	missense	possibly damaging	0.51
R3696:Emc1	UTSW	4	139,365,386 (GRCm38)	missense	possibly damaging	0.46
R3697:Emc1	UTSW	4	139,365,386 (GRCm38)	missense	possibly damaging	0.46
R3698:Emc1	UTSW	4	139,365,386 (GRCm38)	missense	possibly damaging	0.46
R3803:Emc1	UTSW	4	139,367,163 (GRCm38)	missense	possibly damaging	0.91
R3923:Emc1	UTSW	4	139,363,185 (GRCm38)	nonsense	probably null
R4738:Emc1	UTSW	4	139,362,202 (GRCm38)	missense	possibly damaging	0.52
R4914:Emc1	UTSW	4	139,375,165 (GRCm38)	nonsense	probably null
R5033:Emc1	UTSW	4	139,371,696 (GRCm38)	missense	probably damaging	1.00
R5322:Emc1	UTSW	4	139,354,246 (GRCm38)	missense	probably damaging	1.00
R5375:Emc1	UTSW	4	139,366,491 (GRCm38)	missense	probably damaging	0.96
R5483:Emc1	UTSW	4	139,375,376 (GRCm38)	missense	probably damaging	1.00
R5587:Emc1	UTSW	4	139,362,148 (GRCm38)	missense	probably damaging	0.98
R5687:Emc1	UTSW	4	139,375,380 (GRCm38)	missense	probably damaging	1.00
R5938:Emc1	UTSW	4	139,357,620 (GRCm38)	missense	probably benign
R6056:Emc1	UTSW	4	139,354,222 (GRCm38)	missense	possibly damaging	0.51
R6170:Emc1	UTSW	4	139,366,378 (GRCm38)	missense	probably benign	0.01
R6174:Emc1	UTSW	4	139,366,531 (GRCm38)	missense	probably benign	0.01
R6208:Emc1	UTSW	4	139,354,271 (GRCm38)	missense	probably damaging	0.99
R6340:Emc1	UTSW	4	139,365,563 (GRCm38)	missense	probably damaging	1.00
R6371:Emc1	UTSW	4	139,371,665 (GRCm38)	nonsense	probably null
R6889:Emc1	UTSW	4	139,365,350 (GRCm38)	missense	probably damaging	0.97
R7592:Emc1	UTSW	4	139,360,566 (GRCm38)	missense	probably benign	0.00
R7699:Emc1	UTSW	4	139,354,870 (GRCm38)	missense	probably benign
R7715:Emc1	UTSW	4	139,371,623 (GRCm38)	missense	probably damaging	1.00
R7984:Emc1	UTSW	4	139,375,449 (GRCm38)	missense	probably damaging	1.00
R8112:Emc1	UTSW	4	139,367,187 (GRCm38)	missense	probably benign	0.00
R8325:Emc1	UTSW	4	139,365,210 (GRCm38)	missense	possibly damaging	0.94
R8387:Emc1	UTSW	4	139,361,289 (GRCm38)	missense	probably benign
R8751:Emc1	UTSW	4	139,369,968 (GRCm38)	missense	possibly damaging	0.58
R9032:Emc1	UTSW	4	139,367,163 (GRCm38)	missense	possibly damaging	0.91
R9085:Emc1	UTSW	4	139,367,163 (GRCm38)	missense	possibly damaging	0.91
R9474:Emc1	UTSW	4	139,366,394 (GRCm38)	missense	probably damaging	0.98
R9482:Emc1	UTSW	4	139,360,890 (GRCm38)	missense	probably damaging	0.96
R9610:Emc1	UTSW	4	139,363,724 (GRCm38)	missense	probably benign	0.38
R9611:Emc1	UTSW	4	139,363,724 (GRCm38)	missense	probably benign	0.38

Posted On

2016-08-02