Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Emc1'

207411

Institutional Source

Beutler Lab

Gene Symbol

Emc1

Ensembl Gene

ENSMUSG00000078517

Gene Name

ER membrane protein complex subunit 1

Synonyms

C230096C10Rik

MMRRC Submission

039868-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1843 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

139352587-139378730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139375512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 994 (R994Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137103 (fasta)

Gene Model

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

AlphaFold

Q8C7X2

Predicted Effect

probably benign
Transcript: ENSMUST00000042096
AA Change: R991Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: R991Q

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 benign
Transcript: ENSMUST00000082262
AA Change: R994Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: R994Q

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: R994Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: R994Q

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

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 105,708,974	T88M	probably damaging	Het
9130011E15Rik	A	C	19: 45,975,252	S42R	probably benign	Het
9430038I01Rik	A	G	7: 137,377,066		probably benign	Het
Adgra3	A	C	5: 49,961,492	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,544,533	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,314	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,271,595	K360E	probably damaging	Het
Anks1b	T	A	10: 90,512,889		probably null	Het
Apob	T	C	12: 8,007,602	F2028S	possibly damaging	Het
Arap3	G	A	18: 37,975,583	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,518,050	Y135H	probably damaging	Het
Atp1a1	T	C	3: 101,582,017	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,322,821	M497L	probably benign	Het
Ces5a	C	T	8: 93,514,231	V413M	probably damaging	Het
Chd5	A	T	4: 152,385,806	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,010,794	N1500K	probably benign	Het
Chmp7	G	T	14: 69,719,799	D303E	probably benign	Het
Chrnb4	A	T	9: 55,034,818	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,388,152	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,877,528	I207T	probably benign	Het
Dcp1a	A	G	14: 30,518,983	E250G	probably damaging	Het
Ddx20	T	C	3: 105,679,082	Q649R	probably benign	Het
Defb12	T	A	8: 19,112,738	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,729,760	I85N	probably damaging	Het
Duox2	C	T	2: 122,292,258		probably null	Het
E430018J23Rik	A	C	7: 127,391,488	D442E	probably benign	Het
Ebi3	T	A	17: 55,956,679	Y197N	probably damaging	Het
Ercc6	G	T	14: 32,546,820	M530I	probably damaging	Het
Evl	T	A	12: 108,652,996	D70E	probably damaging	Het
Fam35a	A	G	14: 34,267,803	I382T	probably benign	Het
Fbln2	A	G	6: 91,265,775	N819S	probably damaging	Het
Foxk2	A	G	11: 121,285,537	I170V	probably benign	Het
Gfm1	T	C	3: 67,435,610	V159A	probably damaging	Het
Gm10837	A	G	14: 122,490,765	T18A	unknown	Het
Gm12887	A	T	4: 121,622,030	V25E	probably damaging	Het
Hectd4	A	G	5: 121,297,180	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,636,632	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,545,567	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,704,270		probably null	Het
Invs	T	A	4: 48,422,035	I889N	probably damaging	Het
Kcnq1	A	T	7: 143,183,120	M209L	probably benign	Het
Klra7	A	G	6: 130,229,994	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,333,526		probably benign	Het
Lrif1	T	A	3: 106,732,811	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,227,173		probably null	Het
Lypd6	T	A	2: 50,188,762	I90N	possibly damaging	Het
Mbp	A	G	18: 82,584,122	D174G	probably damaging	Het
Megf9	G	T	4: 70,534,785	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,869,586	T1155S	probably benign	Het
Nlrp6	T	A	7: 140,923,093	C371S	probably damaging	Het
Nosip	T	A	7: 45,077,309		probably null	Het
Nox3	G	T	17: 3,669,878	P344H	probably damaging	Het
Nup210l	T	C	3: 90,172,086	V959A	probably damaging	Het
Olfr1360	C	A	13: 21,674,672	V91L	probably benign	Het
Olfr1475	A	G	19: 13,479,931	I89T	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,077	I211F	probably damaging	Het
Olfr267	T	C	4: 58,785,384	I113V	probably benign	Het
Olfr959	A	G	9: 39,572,735	Y175H	possibly damaging	Het
Osbpl3	A	C	6: 50,370,143	S25A	probably damaging	Het
Otog	G	A	7: 46,246,283	C107Y	probably damaging	Het
Pax7	G	A	4: 139,784,491	R260C	probably damaging	Het
Pbrm1	A	T	14: 31,038,957	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,192,225		probably null	Het
Pcnx	T	C	12: 81,980,935	L1585P	probably damaging	Het
Pde4c	C	T	8: 70,747,950	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pgm2	A	T	4: 99,961,478	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,343,505	H814R	probably benign	Het
Pknox2	A	T	9: 36,954,831	M5K	possibly damaging	Het
Pole	G	A	5: 110,330,835		probably null	Het
Polr1b	A	G	2: 129,102,966	I61V	probably benign	Het
Prelp	T	C	1: 133,914,757	K217E	probably damaging	Het
Prkce	C	T	17: 86,475,546	Q202*	probably null	Het
Psmd2	T	G	16: 20,656,582	M370R	probably benign	Het
Rimklb	A	T	6: 122,464,009	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,754,674	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,598,752	M1L	probably benign	Het
Scrn1	A	G	6: 54,522,841	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,950,675	S461G	probably benign	Het
Serpina1c	T	A	12: 103,895,023	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,671,381	P346L	probably benign	Het
Slc9a3r2	C	T	17: 24,641,719	S150N	possibly damaging	Het
Spg21	G	T	9: 65,465,336	V17F	probably damaging	Het
Spink5	A	T	18: 43,999,891	M525L	probably benign	Het
Sun2	T	C	15: 79,737,563	T155A	probably benign	Het
Tchh	T	A	3: 93,446,780	F1176I	unknown	Het
Tex15	T	A	8: 33,576,654	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,317,804	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,276,780	N139S	probably benign	Het
Tns2	C	T	15: 102,113,133		probably null	Het
Trim66	T	C	7: 109,475,839	E405G	probably damaging	Het
Trpc4	T	A	3: 54,279,994	F456I	probably benign	Het
Tspo2	T	C	17: 48,448,790	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,121,554	C304*	probably null	Het
Vgll4	A	T	6: 114,862,795	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,244,470	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,597,921	S587A	probably benign	Het
Vps4b	C	A	1: 106,778,982	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,229,564	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zswim5	G	T	4: 116,877,699	E80D	unknown	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
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
R9482:Emc1	UTSW	4	139360890	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATTCCTGACTGAATCTGAGGTGC -3'
(R):5'- GTGTTCCCGAAGCACTTCTC -3'

Sequencing Primer
(F):5'- TGGCTGCTCACTGGCTGTC -3'
(R):5'- TTCTCCATGAAGGTGCACC -3'

Posted On

2014-06-23