Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02264:Emc1'

286858

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 #

IGL02264

Quality Score

Status

Chromosome

Chromosomal Location

139352587-139378730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139375464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 978 (F978S)

Ref Sequence

ENSEMBL: ENSMUSP00000080888 (fasta)

Gene Model

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

AlphaFold

Q8C7X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000042096
AA Change: F975S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: F975S

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: F978S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: F978S

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 damaging
Transcript: ENSMUST00000179784
AA Change: F978S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: F978S

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: ENSMUST00000181556

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,542,369		probably null	Het
Abhd17b	T	C	19: 21,678,432	L26P	probably damaging	Het
Abtb1	A	G	6: 88,836,535	V407A	probably benign	Het
Adamts17	C	A	7: 67,047,459		probably null	Het
Arhgap21	G	T	2: 20,860,039		probably null	Het
Brwd1	T	C	16: 96,019,456	D1290G	probably damaging	Het
Btbd6	A	G	12: 112,976,969	T49A	probably damaging	Het
Carmil1	C	T	13: 24,075,716	V702I	possibly damaging	Het
Cts8	T	A	13: 61,250,958	I245F	probably damaging	Het
D230025D16Rik	C	T	8: 105,234,546	A71V	possibly damaging	Het
Dclre1a	T	A	19: 56,544,293	N623I	possibly damaging	Het
Dnah9	A	T	11: 66,080,488		probably benign	Het
Fam185a	G	A	5: 21,480,394	V363I	possibly damaging	Het
Iglc2	G	T	16: 19,198,647	S69R	probably damaging	Het
Ints5	T	C	19: 8,895,712	V345A	probably benign	Het
Kif21b	T	A	1: 136,159,757	L937Q	probably damaging	Het
Lrba	A	G	3: 86,780,262	R2825G	probably damaging	Het
Map1a	A	G	2: 121,307,313	E2870G	probably damaging	Het
Olfr1233	G	T	2: 89,339,684	T206K	probably benign	Het
Olfr1287	A	G	2: 111,449,862	T241A	probably benign	Het
Olfr259	C	T	2: 87,107,441		probably benign	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Pcsk1	C	A	13: 75,105,959	T210K	probably damaging	Het
Slco5a1	A	G	1: 12,871,995	V809A	probably benign	Het
Synm	T	C	7: 67,734,396	T1173A	probably damaging	Het
Tbc1d9b	T	C	11: 50,149,757	I367T	probably damaging	Het
Tmem169	T	A	1: 72,300,955	Y181*	probably null	Het
Trp73	G	T	4: 154,064,428	F289L	probably null	Het
Ttll9	A	G	2: 153,000,135	Y303C	probably damaging	Het
Ubr4	G	T	4: 139,455,628	E3577*	probably null	Het
Zbtb3	T	G	19: 8,803,365	V114G	probably 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
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
IGL03386:Emc1	APN	4	139,363,781 (GRCm38)	critical splice donor site	probably null
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

2015-04-16