Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02174:Emc1'

283042

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

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL02174

Quality Score

Status

Chromosome

Chromosomal Location

139352587-139378730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139371668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 821 (Y821H)

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: Y818H

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: Y818H

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: Y821H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: Y821H

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

possibly damaging
Transcript: ENSMUST00000179784
AA Change: Y821H

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: Y821H

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,500,742	I1199V	probably damaging	Het
Adgrv1	G	A	13: 81,427,664	T4861I	probably benign	Het
Ampd2	T	C	3: 108,080,285	D108G	probably damaging	Het
Azin1	A	G	15: 38,493,486	F298L	probably benign	Het
Bag1	T	A	4: 40,941,555	E123D	possibly damaging	Het
Cabs1	A	G	5: 87,980,480	E330G	probably benign	Het
Ccdc33	T	C	9: 58,033,655	K435E	probably benign	Het
Clip2	T	G	5: 134,494,264	K943T	probably damaging	Het
Cmya5	T	C	13: 93,048,907	I3527V	possibly damaging	Het
Cyp2w1	C	T	5: 139,355,629	R244C	probably benign	Het
Dcaf13	C	A	15: 39,138,149	A284E	probably damaging	Het
Ddx31	T	A	2: 28,859,029	L279Q	probably damaging	Het
Dgki	A	G	6: 37,032,921	L497P	probably damaging	Het
Dnah12	A	T	14: 26,706,917	I233F	probably benign	Het
Dpp6	G	T	5: 27,721,087	G720*	probably null	Het
E430018J23Rik	G	A	7: 127,392,353	T154I	possibly damaging	Het
Esr1	C	T	10: 4,998,003	R519W	probably damaging	Het
Gamt	A	T	10: 80,258,396	V227E	possibly damaging	Het
Habp2	A	G	19: 56,311,737	Q206R	probably damaging	Het
Ihh	A	G	1: 74,950,946	I90T	probably damaging	Het
Kif20b	T	C	19: 34,934,458		probably benign	Het
Lcp2	T	C	11: 34,050,966		probably benign	Het
Lyrm2	A	G	4: 32,800,649	I29V	probably benign	Het
Macf1	T	C	4: 123,491,794	D1168G	probably damaging	Het
Mocos	T	C	18: 24,695,896	S753P	probably benign	Het
Myo3a	A	G	2: 22,332,393	E367G	probably benign	Het
Ndor1	G	A	2: 25,249,194	A255V	possibly damaging	Het
Nfat5	C	T	8: 107,339,051	P148S	probably damaging	Het
Olfr1043	T	A	2: 86,162,098	M284L	possibly damaging	Het
Olfr1226	A	T	2: 89,193,368	F222Y	probably benign	Het
Olfr5	T	C	7: 6,480,439	Y239C	probably benign	Het
Olfr890	A	T	9: 38,143,785	T217S	possibly damaging	Het
Pappa2	C	T	1: 158,761,618	C1679Y	probably damaging	Het
Pcdhb2	T	A	18: 37,296,498	I508N	probably damaging	Het
Pkd2l1	G	A	19: 44,157,268	T172I	probably benign	Het
Pld5	A	G	1: 176,274,744	V44A	possibly damaging	Het
Prss44	T	C	9: 110,817,131	W309R	probably damaging	Het
Rc3h2	A	T	2: 37,411,225	N88K	probably benign	Het
Rspry1	A	G	8: 94,633,140	I102M	possibly damaging	Het
Stab2	A	G	10: 86,859,742		probably null	Het
Tbx3	C	A	5: 119,675,584	Y228*	probably null	Het
Tcf15	G	T	2: 152,144,145		probably benign	Het
Tmem41b	A	G	7: 109,978,796	S94P	possibly damaging	Het
Trmt10b	A	T	4: 45,308,508	I223F	possibly damaging	Het
Tyrp1	G	T	4: 80,844,826	G317*	probably null	Het
Urod	T	A	4: 116,990,282		probably benign	Het
Vwf	G	T	6: 125,555,395	R52L	probably damaging	Het
Wnk2	C	A	13: 49,057,167	Q232H	probably damaging	Het
Zbtb10	C	A	3: 9,251,812	P228Q	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
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
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

Posted On

2015-04-16