Mutagenetix > Incidental Mutation

Incidental Mutation 'R3698:Emc1'

269883

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R3698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139079898-139106041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 139092697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 546 (S546A)

Ref Sequence

ENSEMBL: ENSMUSP00000080888 (fasta)

Gene Model

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

AlphaFold

Q8C7X2

Predicted Effect

probably benign
Transcript: ENSMUST00000042096
AA Change: S543A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: S543A

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: S546A

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: S546A

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 benign
Transcript: ENSMUST00000179784
AA Change: S546A

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: S546A

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

0.0739

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	C	A	19: 56,904,955 (GRCm39)	S549I	possibly damaging	Het
Aldh4a1	A	G	4: 139,369,562 (GRCm39)	H371R	possibly damaging	Het
Arpc1a	G	T	5: 145,033,001 (GRCm39)	K103N	probably damaging	Het
Btg3	A	G	16: 78,161,722 (GRCm39)	S136P	probably benign	Het
Ckap5	C	A	2: 91,450,511 (GRCm39)	T2014K	probably benign	Het
Dennd10	A	G	19: 60,821,054 (GRCm39)		probably null	Het
G3bp2	T	C	5: 92,204,139 (GRCm39)	E316G	possibly damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Il6st	T	G	13: 112,640,916 (GRCm39)	D897E	probably benign	Het
Ipo13	A	G	4: 117,757,890 (GRCm39)	L767P	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl13	G	A	X: 23,114,422 (GRCm39)	T94I	probably benign	Het
Morc2a	A	T	11: 3,629,672 (GRCm39)	K364*	probably null	Het
Nat8f2	T	A	6: 85,844,778 (GRCm39)	T195S	probably benign	Het
Nckipsd	G	A	9: 108,688,320 (GRCm39)	G83S	probably damaging	Het
Nfu1	A	G	6: 86,992,634 (GRCm39)	T83A	probably damaging	Het
Nid1	G	A	13: 13,661,344 (GRCm39)	C748Y	probably damaging	Het
Or1af1	C	T	2: 37,110,188 (GRCm39)	P229L	probably damaging	Het
Or5w15	T	C	2: 87,568,360 (GRCm39)	T103A	probably benign	Het
Rgs22	C	T	15: 36,100,038 (GRCm39)	V226I	probably benign	Het
Slc13a4	T	A	6: 35,251,892 (GRCm39)	I467F	probably benign	Het
Stat2	T	A	10: 128,114,662 (GRCm39)	L253Q	probably benign	Het
Tnxb	G	T	17: 34,909,407 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,564,595 (GRCm39)	R28514H	probably damaging	Het
Usp15	T	C	10: 123,017,643 (GRCm39)	D51G	probably damaging	Het
Uvrag	T	C	7: 98,589,150 (GRCm39)	E417G	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
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
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'- ATGTTCCTGAAACGCCTGTC -3'
(R):5'- TGCACCATCAGCTTAAAGGAG -3'

Sequencing Primer
(F):5'- GTCGTCCCAGCTCATCCTG -3'
(R):5'- CTGGCTTAACATTGGGCAGATAC -3'

Posted On

2015-03-18