Mutagenetix > Incidental Mutation

Incidental Mutation 'R5322:Emc1'

404892

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

MMRRC Submission

042905-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139352587-139378730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139354246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 62 (N62Y)

Ref Sequence

ENSEMBL: ENSMUSP00000080888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030513] [ENSMUST00000042096] [ENSMUST00000082262] [ENSMUST00000102503] [ENSMUST00000147999] [ENSMUST00000155257] [ENSMUST00000179784]

AlphaFold

Q8C7X2

Predicted Effect

probably benign
Transcript: ENSMUST00000030513

SMART Domains

Protein: ENSMUSP00000030513
Gene: ENSMUSG00000028741

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L10	18	121	7.9e-23	PFAM
low complexity region	222	238	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000042096
AA Change: N62Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: N62Y

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: N62Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: N62Y

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: ENSMUST00000102503

SMART Domains

Protein: ENSMUSP00000099561
Gene: ENSMUSG00000028741

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L10	18	121	4.6e-24	PFAM
low complexity region	223	239	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144335

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: ENSMUST00000155257

SMART Domains

Protein: ENSMUSP00000121453
Gene: ENSMUSG00000028741

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L10	1	61	4.9e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179784
AA Change: N62Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: N62Y

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	G	9: 94,520,562	I349T	probably benign	Het
Adamts3	C	T	5: 89,707,300		probably null	Het
Ankar	T	C	1: 72,690,386		probably null	Het
Ankrd60	T	A	2: 173,568,817	K303N	possibly damaging	Het
Appbp2	A	G	11: 85,196,064		probably null	Het
Arvcf	T	C	16: 18,397,643	M176T	probably benign	Het
Cachd1	T	C	4: 100,952,122	I268T	probably damaging	Het
Ccdc66	A	G	14: 27,482,527	S933P	probably damaging	Het
Cfi	C	T	3: 129,873,040	P471S	probably damaging	Het
Ckmt2	G	T	13: 91,861,772	T143K	possibly damaging	Het
Cnksr3	A	T	10: 7,135,078	D15E	probably damaging	Het
Copb2	A	T	9: 98,585,976	K680N	probably benign	Het
D2hgdh	T	C	1: 93,829,898		probably null	Het
Dcn	A	T	10: 97,517,602	T338S	probably benign	Het
Dnah10	G	A	5: 124,773,566	G1644D	probably damaging	Het
Dnah5	A	G	15: 28,384,244	I3045V	probably benign	Het
Dock3	G	A	9: 106,901,829	T307I	probably benign	Het
Dock5	A	T	14: 67,770,266	I1498N	probably benign	Het
Enpp6	C	A	8: 47,068,915	H295N	probably benign	Het
Epha10	A	G	4: 124,885,748	Y129C	probably damaging	Het
Fbn2	A	T	18: 58,039,315	D2139E	probably benign	Het
Fbxl12	A	T	9: 20,639,008	V140E	probably damaging	Het
Fignl1	A	T	11: 11,801,571	F495I	probably damaging	Het
Gm43302	C	T	5: 105,217,481	A554T	probably benign	Het
Gpr157	A	G	4: 150,098,852	N160D	probably benign	Het
Il1rn	G	A	2: 24,348,629		probably null	Het
Kctd13	T	A	7: 126,929,206	L51Q	probably damaging	Het
Kndc1	T	C	7: 139,936,809	F1561L	probably damaging	Het
Mast2	A	G	4: 116,333,411		probably null	Het
Mib1	A	G	18: 10,792,975	H637R	probably damaging	Het
Moxd1	A	T	10: 24,244,253	N93I	possibly damaging	Het
Mycbp2	T	C	14: 103,185,683		probably null	Het
Myot	T	C	18: 44,354,149	F351S	probably benign	Het
N4bp2	T	A	5: 65,790,457	N143K	possibly damaging	Het
Olfr1018	T	A	2: 85,823,187	I72N	probably damaging	Het
Olfr147	A	T	9: 38,403,566	I228F	probably damaging	Het
Olfr243	T	A	7: 103,717,112	W173R	probably benign	Het
Olfr455	T	C	6: 42,539,016	D2G	probably benign	Het
Olfr623	T	C	7: 103,660,672	I193V	possibly damaging	Het
Olfr666	C	T	7: 104,893,164	V155I	probably benign	Het
Olfr917	T	A	9: 38,665,206	I213L	probably benign	Het
Patl1	C	T	19: 11,920,859	R134*	probably null	Het
Paxbp1	T	C	16: 91,015,162	I887V	probably benign	Het
Pi4kb	G	A	3: 94,994,249	R436Q	probably benign	Het
Pla2g3	A	G	11: 3,488,686	E112G	probably benign	Het
Ppp2r2a	A	G	14: 67,038,873		probably null	Het
Rela	T	A	19: 5,645,380	S311R	possibly damaging	Het
Sidt1	T	A	16: 44,281,622		probably benign	Het
Smco2	T	C	6: 146,871,287	L329P	probably damaging	Het
Speer4f1	A	T	5: 17,477,349	I77F	possibly damaging	Het
Tex14	A	G	11: 87,511,472	I462V	probably benign	Het
Tmem260	C	T	14: 48,486,849	R385W	probably damaging	Het
Trrap	T	C	5: 144,844,224	V2974A	probably damaging	Het
Usp47	C	T	7: 112,053,269	T31I	probably damaging	Het
Zc2hc1a	A	G	3: 7,551,421	N247S	probably benign	Het
Zeb2	A	C	2: 44,997,095	M582R	probably damaging	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
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
R8325:Emc1	UTSW	4	139365210	missense	possibly damaging	0.94
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'- ACGTTGCACAGAACTCTTGC -3'
(R):5'- AATTACAAAGGCAGTGCGAC -3'

Sequencing Primer
(F):5'- GCACAGAACTCTTGCGTATG -3'
(R):5'- GTGCGACAAATTTACCCAGTG -3'

Posted On

2016-07-22