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: 0.967) question?

Stock #

R3698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139352587-139378730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 139365386 bp (GRCm38)

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: 56,916,523 (GRCm38)	S549I	possibly damaging	Het
Aldh4a1	A	G	4: 139,642,251 (GRCm38)	H371R	possibly damaging	Het
Arpc1a	G	T	5: 145,096,191 (GRCm38)	K103N	probably damaging	Het
Btg3	A	G	16: 78,364,834 (GRCm38)	S136P	probably benign	Het
Ckap5	C	A	2: 91,620,166 (GRCm38)	T2014K	probably benign	Het
Fam45a	A	G	19: 60,832,616 (GRCm38)		probably null	Het
G3bp2	T	C	5: 92,056,280 (GRCm38)	E316G	possibly damaging	Het
Il12a	TCAC	TC	3: 68,697,987 (GRCm38)		probably null	Het
Il6st	T	G	13: 112,504,382 (GRCm38)	D897E	probably benign	Het
Ipo13	A	G	4: 117,900,693 (GRCm38)	L767P	probably damaging	Het
Kcnd3	C	T	3: 105,658,766 (GRCm38)	A421V	probably damaging	Het
Klhl13	G	A	X: 23,248,183 (GRCm38)	T94I	probably benign	Het
Morc2a	A	T	11: 3,679,672 (GRCm38)	K364*	probably null	Het
Nat8f2	T	A	6: 85,867,796 (GRCm38)	T195S	probably benign	Het
Nckipsd	G	A	9: 108,811,121 (GRCm38)	G83S	probably damaging	Het
Nfu1	A	G	6: 87,015,652 (GRCm38)	T83A	probably damaging	Het
Nid1	G	A	13: 13,486,759 (GRCm38)	C748Y	probably damaging	Het
Olfr1138	T	C	2: 87,738,016 (GRCm38)	T103A	probably benign	Het
Olfr366	C	T	2: 37,220,176 (GRCm38)	P229L	probably damaging	Het
Rgs22	C	T	15: 36,099,892 (GRCm38)	V226I	probably benign	Het
Slc13a4	T	A	6: 35,274,957 (GRCm38)	I467F	probably benign	Het
Stat2	T	A	10: 128,278,793 (GRCm38)	L253Q	probably benign	Het
Tnxb	G	T	17: 34,690,433 (GRCm38)		probably null	Het
Ttn	C	T	2: 76,734,251 (GRCm38)	R28514H	probably damaging	Het
Usp15	T	C	10: 123,181,738 (GRCm38)	D51G	probably damaging	Het
Uvrag	T	C	7: 98,939,943 (GRCm38)	E417G	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
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
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
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

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