Mutagenetix > Incidental Mutation

Incidental Mutation 'R8325:Emc1'

644039

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139352587-139378730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139365210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 487 (M487K)

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: M484K

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: M484K

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: M487K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: M487K

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: M487K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: M487K

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (51/51)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	T	C	15: 89,569,751	V97A	probably benign	Het
Agrn	C	T	4: 156,173,662	G1081D	probably benign	Het
Ang2	A	G	14: 51,195,503	S141P	probably damaging	Het
Ap3b2	T	C	7: 81,484,489		probably null	Het
Apba2	A	T	7: 64,695,982	T307S	probably benign	Het
AU019823	T	C	9: 50,610,308	I104M	probably benign	Het
Cadm2	T	A	16: 66,815,450	N84Y	possibly damaging	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Ccdc62	T	C	5: 123,954,385	C478R	probably benign	Het
Cep290	A	C	10: 100,517,808	H801P	probably benign	Het
Chfr	T	A	5: 110,162,763	Y555*	probably null	Het
Cmas	T	C	6: 142,771,339		probably null	Het
Cmtm7	T	C	9: 114,763,347	I61V	probably benign	Het
Cyb5d2	A	G	11: 72,778,825	S236P	possibly damaging	Het
Dcp1b	C	T	6: 119,215,436	Q438*	probably null	Het
Dgcr8	T	C	16: 18,258,285	Q678R	probably damaging	Het
Gm7361	T	C	5: 26,262,156	S258P	probably damaging	Het
Hbs1l	A	G	10: 21,307,649	I96M	probably benign	Het
Ifi27l2a	G	A	12: 103,442,885	A49V	unknown	Het
Igkv10-96	T	C	6: 68,632,104	Y69C	possibly damaging	Het
Igsf10	A	T	3: 59,318,533	V2573D	probably damaging	Het
Kcng3	T	C	17: 83,631,578	N14S	possibly damaging	Het
Kif20a	A	G	18: 34,626,922	T94A	possibly damaging	Het
Lcp2	T	A	11: 34,082,394	V324E	probably benign	Het
Lmod3	T	C	6: 97,247,418	K481E	probably benign	Het
Met	A	G	6: 17,571,672	E1330G	probably damaging	Het
Mroh1	GCCCAGGCCCC	GCC	15: 76,432,215		probably null	Het
Mss51	T	C	14: 20,484,703	D333G	possibly damaging	Het
Nav3	A	G	10: 109,705,603	V1933A	probably benign	Het
Nbas	A	G	12: 13,288,795	Y212C	probably damaging	Het
Npsr1	C	T	9: 24,286,822		probably benign	Het
Nt5e	A	G	9: 88,363,562	E295G	probably benign	Het
Olfr1160	A	T	2: 88,006,193	L186Q	probably damaging	Het
Olfr449	T	C	6: 42,838,190	F103S	probably damaging	Het
Papss1	A	G	3: 131,582,611	T136A	probably benign	Het
Pcdha1	A	T	18: 36,930,814	D177V	possibly damaging	Het
Pcolce2	A	T	9: 95,692,920	S308C	probably damaging	Het
Pdhx	G	T	2: 103,042,252	P162T	probably benign	Het
Plin3	C	T	17: 56,286,268	R98Q	probably benign	Het
Prr36	T	C	8: 4,212,982	T895A	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf213	A	G	11: 119,430,445	N1243S		Het
Serpinb1b	A	T	13: 33,093,601	K272N	probably benign	Het
Sez6l	A	T	5: 112,428,116		probably null	Het
Syne1	A	T	10: 5,146,257	M739K	probably benign	Het
Tbc1d9	G	A	8: 83,240,038		probably null	Het
Trp53inp1	A	G	4: 11,164,561	D35G	probably damaging	Het
Trpc7	A	G	13: 56,804,711	V549A	probably damaging	Het
Usp18	T	C	6: 121,253,810	L66S	probably damaging	Het
Vmn1r238	C	T	18: 3,122,529	S295N	probably benign	Het
Vmn2r29	T	C	7: 7,241,942	D311G	probably damaging	Het
Vmn2r91	C	A	17: 18,136,363	A764D	probably damaging	Het
Wdfy4	T	A	14: 32,967,487	I3031F		Het
Wdr7	A	G	18: 63,778,464		probably null	Het

Other mutations in Emc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Emc1	APN	4	139355082	splice site	probably benign
IGL00898:Emc1	APN	4	139371630	missense	probably damaging	1.00
IGL01481:Emc1	APN	4	139362099	missense	probably benign	0.00
IGL02174:Emc1	APN	4	139371668	missense	possibly damaging	0.95
IGL02264:Emc1	APN	4	139375464	missense	probably damaging	1.00
IGL02501:Emc1	APN	4	139370984	missense	probably benign	0.00
IGL02697:Emc1	APN	4	139352644	missense	probably benign
IGL03355:Emc1	APN	4	139371593	splice site	probably benign
IGL03386:Emc1	APN	4	139363781	critical splice donor site	probably null
PIT4480001:Emc1	UTSW	4	139359277	missense	possibly damaging	0.69
R0023:Emc1	UTSW	4	139371009	missense	probably damaging	1.00
R0023:Emc1	UTSW	4	139371009	missense	probably damaging	1.00
R0051:Emc1	UTSW	4	139375163	missense	possibly damaging	0.81
R0094:Emc1	UTSW	4	139360485	missense	probably damaging	0.99
R0613:Emc1	UTSW	4	139375072	splice site	probably benign
R1464:Emc1	UTSW	4	139370937	missense	probably damaging	0.97
R1464:Emc1	UTSW	4	139370937	missense	probably damaging	0.97
R1512:Emc1	UTSW	4	139360184	splice site	probably null
R1702:Emc1	UTSW	4	139375201	missense	probably damaging	1.00
R1839:Emc1	UTSW	4	139360485	missense	probably damaging	0.98
R1843:Emc1	UTSW	4	139375512	missense	probably benign	0.02
R1850:Emc1	UTSW	4	139359373	splice site	probably benign
R2024:Emc1	UTSW	4	139360946	missense	possibly damaging	0.95
R2196:Emc1	UTSW	4	139366530	missense	probably benign	0.08
R2912:Emc1	UTSW	4	139365260	missense	possibly damaging	0.51
R3696:Emc1	UTSW	4	139365386	missense	possibly damaging	0.46
R3697:Emc1	UTSW	4	139365386	missense	possibly damaging	0.46
R3698:Emc1	UTSW	4	139365386	missense	possibly damaging	0.46
R3803:Emc1	UTSW	4	139367163	missense	possibly damaging	0.91
R3923:Emc1	UTSW	4	139363185	nonsense	probably null
R4738:Emc1	UTSW	4	139362202	missense	possibly damaging	0.52
R4914:Emc1	UTSW	4	139375165	nonsense	probably null
R5033:Emc1	UTSW	4	139371696	missense	probably damaging	1.00
R5322:Emc1	UTSW	4	139354246	missense	probably damaging	1.00
R5375:Emc1	UTSW	4	139366491	missense	probably damaging	0.96
R5483:Emc1	UTSW	4	139375376	missense	probably damaging	1.00
R5587:Emc1	UTSW	4	139362148	missense	probably damaging	0.98
R5687:Emc1	UTSW	4	139375380	missense	probably damaging	1.00
R5938:Emc1	UTSW	4	139357620	missense	probably benign
R6056:Emc1	UTSW	4	139354222	missense	possibly damaging	0.51
R6170:Emc1	UTSW	4	139366378	missense	probably benign	0.01
R6174:Emc1	UTSW	4	139366531	missense	probably benign	0.01
R6208:Emc1	UTSW	4	139354271	missense	probably damaging	0.99
R6340:Emc1	UTSW	4	139365563	missense	probably damaging	1.00
R6371:Emc1	UTSW	4	139371665	nonsense	probably null
R6889:Emc1	UTSW	4	139365350	missense	probably damaging	0.97
R7592:Emc1	UTSW	4	139360566	missense	probably benign	0.00
R7699:Emc1	UTSW	4	139354870	missense	probably benign
R7715:Emc1	UTSW	4	139371623	missense	probably damaging	1.00
R7984:Emc1	UTSW	4	139375449	missense	probably damaging	1.00
R8112:Emc1	UTSW	4	139367187	missense	probably benign	0.00
R8387:Emc1	UTSW	4	139361289	missense	probably benign
R8751:Emc1	UTSW	4	139369968	missense	possibly damaging	0.58
R9032:Emc1	UTSW	4	139367163	missense	possibly damaging	0.91
R9085:Emc1	UTSW	4	139367163	missense	possibly damaging	0.91
R9474:Emc1	UTSW	4	139366394	missense	probably damaging	0.98
R9482:Emc1	UTSW	4	139360890	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GATTCTAGGTAGGTGAAGTCCTAG -3'
(R):5'- AGGCTGTTACCGTCACCATC -3'

Sequencing Primer
(F):5'- TAGGTGAAGTCCTAGGAGCC -3'
(R):5'- ACCATCATTTTCTGCAGGTTGAAC -3'

Posted On

2020-09-02