Incidental Mutation 'R1843:Emc1'
ID 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
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R1843 (G1)
Quality Score 219
Status Not validated
Chromosome 4
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik C T 8: 105,708,974 (GRCm38) T88M probably damaging Het
9130011E15Rik A C 19: 45,975,252 (GRCm38) S42R probably benign Het
9430038I01Rik A G 7: 137,377,066 (GRCm38) probably benign Het
Adgra3 A C 5: 49,961,492 (GRCm38) S905A probably damaging Het
Adgrv1 A G 13: 81,544,533 (GRCm38) Y1618H probably damaging Het
Anapc15-ps T C 10: 95,673,314 (GRCm38) T26A probably benign Het
Ankrd13d T C 19: 4,271,595 (GRCm38) K360E probably damaging Het
Anks1b T A 10: 90,512,889 (GRCm38) probably null Het
Apob T C 12: 8,007,602 (GRCm38) F2028S possibly damaging Het
Arap3 G A 18: 37,975,583 (GRCm38) R1265W probably damaging Het
Arhgef37 A G 18: 61,518,050 (GRCm38) Y135H probably damaging Het
Atp1a1 T C 3: 101,582,017 (GRCm38) T760A probably benign Het
Cdc42bpb T A 12: 111,322,821 (GRCm38) M497L probably benign Het
Ces5a C T 8: 93,514,231 (GRCm38) V413M probably damaging Het
Chd5 A T 4: 152,385,806 (GRCm38) Y1903F probably damaging Het
Chd9 T A 8: 91,010,794 (GRCm38) N1500K probably benign Het
Chmp7 G T 14: 69,719,799 (GRCm38) D303E probably benign Het
Chrnb4 A T 9: 55,034,818 (GRCm38) Y391N possibly damaging Het
Crtc1 T C 8: 70,388,152 (GRCm38) T475A probably benign Het
Cyp2c69 A G 19: 39,877,528 (GRCm38) I207T probably benign Het
Dcp1a A G 14: 30,518,983 (GRCm38) E250G probably damaging Het
Ddx20 T C 3: 105,679,082 (GRCm38) Q649R probably benign Het
Defb12 T A 8: 19,112,738 (GRCm38) K59N probably damaging Het
Dpy19l3 A T 7: 35,729,760 (GRCm38) I85N probably damaging Het
Duox2 C T 2: 122,292,258 (GRCm38) probably null Het
E430018J23Rik A C 7: 127,391,488 (GRCm38) D442E probably benign Het
Ebi3 T A 17: 55,956,679 (GRCm38) Y197N probably damaging Het
Ercc6 G T 14: 32,546,820 (GRCm38) M530I probably damaging Het
Evl T A 12: 108,652,996 (GRCm38) D70E probably damaging Het
Fam35a A G 14: 34,267,803 (GRCm38) I382T probably benign Het
Fbln2 A G 6: 91,265,775 (GRCm38) N819S probably damaging Het
Foxk2 A G 11: 121,285,537 (GRCm38) I170V probably benign Het
Gfm1 T C 3: 67,435,610 (GRCm38) V159A probably damaging Het
Gm10837 A G 14: 122,490,765 (GRCm38) T18A unknown Het
Gm12887 A T 4: 121,622,030 (GRCm38) V25E probably damaging Het
Hectd4 A G 5: 121,297,180 (GRCm38) H985R possibly damaging Het
Hsfy2 A G 1: 56,636,632 (GRCm38) Y249H possibly damaging Het
Hspg2 T C 4: 137,545,567 (GRCm38) V2639A probably damaging Het
Igf2r A G 17: 12,704,270 (GRCm38) probably null Het
Invs T A 4: 48,422,035 (GRCm38) I889N probably damaging Het
Kcnq1 A T 7: 143,183,120 (GRCm38) M209L probably benign Het
Klra7 A G 6: 130,229,994 (GRCm38) I48T possibly damaging Het
Krt26 CTAGTA CTA 11: 99,333,526 (GRCm38) probably benign Het
Lrif1 T A 3: 106,732,811 (GRCm38) V404D probably damaging Het
Lrriq1 T A 10: 103,227,173 (GRCm38) probably null Het
Lypd6 T A 2: 50,188,762 (GRCm38) I90N possibly damaging Het
Mbp A G 18: 82,584,122 (GRCm38) D174G probably damaging Het
Megf9 G T 4: 70,534,785 (GRCm38) P13Q probably damaging Het
Myo15b A T 11: 115,869,586 (GRCm38) T1155S probably benign Het
Nlrp6 T A 7: 140,923,093 (GRCm38) C371S probably damaging Het
Nosip T A 7: 45,077,309 (GRCm38) probably null Het
Nox3 G T 17: 3,669,878 (GRCm38) P344H probably damaging Het
Nup210l T C 3: 90,172,086 (GRCm38) V959A probably damaging Het
Olfr1360 C A 13: 21,674,672 (GRCm38) V91L probably benign Het
Olfr1475 A G 19: 13,479,931 (GRCm38) I89T probably benign Het
Olfr175-ps1 T A 16: 58,824,077 (GRCm38) I211F probably damaging Het
Olfr267 T C 4: 58,785,384 (GRCm38) I113V probably benign Het
Olfr959 A G 9: 39,572,735 (GRCm38) Y175H possibly damaging Het
Osbpl3 A C 6: 50,370,143 (GRCm38) S25A probably damaging Het
Otog G A 7: 46,246,283 (GRCm38) C107Y probably damaging Het
Pax7 G A 4: 139,784,491 (GRCm38) R260C probably damaging Het
Pbrm1 A T 14: 31,038,957 (GRCm38) I224F probably damaging Het
Pcdh1 T A 18: 38,192,225 (GRCm38) probably null Het
Pcnx T C 12: 81,980,935 (GRCm38) L1585P probably damaging Het
Pde4c C T 8: 70,747,950 (GRCm38) H362Y probably damaging Het
Pdlim2 C T 14: 70,164,779 (GRCm38) R296H probably damaging Het
Pgm2 A T 4: 99,961,478 (GRCm38) Q90L probably damaging Het
Phlpp1 A G 1: 106,343,505 (GRCm38) H814R probably benign Het
Pknox2 A T 9: 36,954,831 (GRCm38) M5K possibly damaging Het
Pole G A 5: 110,330,835 (GRCm38) probably null Het
Polr1b A G 2: 129,102,966 (GRCm38) I61V probably benign Het
Prelp T C 1: 133,914,757 (GRCm38) K217E probably damaging Het
Prkce C T 17: 86,475,546 (GRCm38) Q202* probably null Het
Psmd2 T G 16: 20,656,582 (GRCm38) M370R probably benign Het
Rimklb A T 6: 122,464,009 (GRCm38) H68Q probably damaging Het
Rnasel A G 1: 153,754,674 (GRCm38) D312G possibly damaging Het
Rxrg A T 1: 167,598,752 (GRCm38) M1L probably benign Het
Scrn1 A G 6: 54,522,841 (GRCm38) F220L possibly damaging Het
Scyl3 A G 1: 163,950,675 (GRCm38) S461G probably benign Het
Serpina1c T A 12: 103,895,023 (GRCm38) T411S probably benign Het
Serpinb6d C T 13: 33,671,381 (GRCm38) P346L probably benign Het
Slc9a3r2 C T 17: 24,641,719 (GRCm38) S150N possibly damaging Het
Spg21 G T 9: 65,465,336 (GRCm38) V17F probably damaging Het
Spink5 A T 18: 43,999,891 (GRCm38) M525L probably benign Het
Sun2 T C 15: 79,737,563 (GRCm38) T155A probably benign Het
Tchh T A 3: 93,446,780 (GRCm38) F1176I unknown Het
Tex15 T A 8: 33,576,654 (GRCm38) D2037E probably benign Het
Tfdp2 T C 9: 96,317,804 (GRCm38) C392R possibly damaging Het
Tmem30c T C 16: 57,276,780 (GRCm38) N139S probably benign Het
Tns2 C T 15: 102,113,133 (GRCm38) probably null Het
Trim66 T C 7: 109,475,839 (GRCm38) E405G probably damaging Het
Trpc4 T A 3: 54,279,994 (GRCm38) F456I probably benign Het
Tspo2 T C 17: 48,448,790 (GRCm38) D108G possibly damaging Het
Tyk2 A T 9: 21,121,554 (GRCm38) C304* probably null Het
Vgll4 A T 6: 114,862,795 (GRCm38) S185T probably benign Het
Vmn2r94 A C 17: 18,244,470 (GRCm38) S519R probably benign Het
Vmn2r96 T G 17: 18,597,921 (GRCm38) S587A probably benign Het
Vps4b C A 1: 106,778,982 (GRCm38) A287S possibly damaging Het
Yeats2 C T 16: 20,229,564 (GRCm38) P1332S probably benign Het
Zfp462 T G 4: 55,010,010 (GRCm38) S659A possibly damaging Het
Zfp507 C T 7: 35,793,725 (GRCm38) R631Q probably damaging Het
Zswim5 G T 4: 116,877,699 (GRCm38) E80D unknown Het
Other mutations in Emc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R3698: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'- ATTCCTGACTGAATCTGAGGTGC -3'
(R):5'- GTGTTCCCGAAGCACTTCTC -3'

Sequencing Primer
(F):5'- TGGCTGCTCACTGGCTGTC -3'
(R):5'- TTCTCCATGAAGGTGCACC -3'
Posted On 2014-06-23