Incidental Mutation 'IGL03355:Emc1'
ID 419931
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
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL03355
Quality Score
Status
Chromosome 4
Chromosomal Location 139079898-139106041 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 139098904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517

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
SMART Domains Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517

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
SMART Domains Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt1 T C X: 45,418,624 (GRCm39) V213A probably benign Het
Adam28 A T 14: 68,872,252 (GRCm39) probably benign Het
Apeh T C 9: 107,963,644 (GRCm39) H557R probably benign Het
Atmin T A 8: 117,684,164 (GRCm39) L608* probably null Het
B3gnt5 A T 16: 19,587,903 (GRCm39) M41L probably benign Het
Best3 T C 10: 116,829,010 (GRCm39) F97L possibly damaging Het
Chmp1b2 C A X: 106,831,889 (GRCm39) V180F possibly damaging Het
Col7a1 G A 9: 108,807,228 (GRCm39) V2486M unknown Het
Crym T C 7: 119,798,536 (GRCm39) probably null Het
Cubn T C 2: 13,482,868 (GRCm39) probably null Het
Dnah7b A G 1: 46,158,464 (GRCm39) D349G probably benign Het
Eea1 T C 10: 95,878,074 (GRCm39) probably benign Het
Eps8 T C 6: 137,489,143 (GRCm39) probably benign Het
Ereg A G 5: 91,236,440 (GRCm39) probably benign Het
Faah G A 4: 115,859,725 (GRCm39) P369S probably benign Het
Fam135a A T 1: 24,068,249 (GRCm39) N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 (GRCm39) S622P probably damaging Het
Gm10030 A G 9: 110,835,841 (GRCm39) noncoding transcript Het
Gpr179 A T 11: 97,228,434 (GRCm39) S1240R possibly damaging Het
Hax1 A T 3: 89,904,754 (GRCm39) H146Q possibly damaging Het
Ift46 A G 9: 44,693,445 (GRCm39) N31D possibly damaging Het
Kel C T 6: 41,675,821 (GRCm39) probably null Het
Khk A T 5: 31,086,904 (GRCm39) I108L probably benign Het
Morc4 T C X: 138,750,431 (GRCm39) N375S probably null Het
Mta3 A T 17: 84,107,474 (GRCm39) probably benign Het
Nacc2 T C 2: 25,952,249 (GRCm39) K369R probably damaging Het
Nkap T C X: 36,403,323 (GRCm39) probably benign Het
Obscn A T 11: 58,928,618 (GRCm39) L6016Q probably damaging Het
Or52e2 T C 7: 102,804,408 (GRCm39) E182G probably damaging Het
Or8c9 A T 9: 38,240,952 (GRCm39) Q20L probably benign Het
Pde4c T A 8: 71,199,244 (GRCm39) L182Q probably damaging Het
Pla2g10 G T 16: 13,548,284 (GRCm39) probably null Het
Rap1gap2 T A 11: 74,303,170 (GRCm39) I426F probably damaging Het
Rbm33 C A 5: 28,596,059 (GRCm39) probably benign Het
Rnf139 C A 15: 58,771,881 (GRCm39) D635E probably benign Het
Sar1a T C 10: 61,520,718 (GRCm39) V15A possibly damaging Het
Scarb1 A C 5: 125,366,766 (GRCm39) S56A probably benign Het
Scn3a T C 2: 65,290,912 (GRCm39) K1945E possibly damaging Het
Sec62 G A 3: 30,864,071 (GRCm39) G118R unknown Het
Sgce T A 6: 4,689,738 (GRCm39) Q356L probably damaging Het
Slco4c1 A T 1: 96,770,232 (GRCm39) Y277* probably null Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Sphkap A T 1: 83,258,224 (GRCm39) I173N probably damaging Het
Spred3 C T 7: 28,860,997 (GRCm39) C394Y unknown Het
Stra6l A G 4: 45,873,689 (GRCm39) D283G probably benign Het
Tipin A T 9: 64,195,406 (GRCm39) Q4L probably benign Het
Tmprss11c T A 5: 86,379,730 (GRCm39) I380F probably benign Het
Tymp T C 15: 89,259,219 (GRCm39) D195G possibly damaging Het
Ugt2b34 T A 5: 87,054,544 (GRCm39) Y79F probably benign Het
Vmn2r16 T A 5: 109,511,580 (GRCm39) S596T possibly damaging Het
Wdhd1 A G 14: 47,481,346 (GRCm39) S1024P possibly damaging Het
Other mutations in Emc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Emc1 APN 4 139,082,393 (GRCm39) splice site probably benign
IGL00898:Emc1 APN 4 139,098,941 (GRCm39) missense probably damaging 1.00
IGL01481:Emc1 APN 4 139,089,410 (GRCm39) missense probably benign 0.00
IGL02174:Emc1 APN 4 139,098,979 (GRCm39) missense possibly damaging 0.95
IGL02264:Emc1 APN 4 139,102,775 (GRCm39) missense probably damaging 1.00
IGL02501:Emc1 APN 4 139,098,295 (GRCm39) missense probably benign 0.00
IGL02697:Emc1 APN 4 139,079,955 (GRCm39) missense probably benign
IGL03386:Emc1 APN 4 139,091,092 (GRCm39) critical splice donor site probably null
PIT4480001:Emc1 UTSW 4 139,086,588 (GRCm39) missense possibly damaging 0.69
R0023:Emc1 UTSW 4 139,098,320 (GRCm39) missense probably damaging 1.00
R0023:Emc1 UTSW 4 139,098,320 (GRCm39) missense probably damaging 1.00
R0051:Emc1 UTSW 4 139,102,474 (GRCm39) missense possibly damaging 0.81
R0094:Emc1 UTSW 4 139,087,796 (GRCm39) missense probably damaging 0.99
R0613:Emc1 UTSW 4 139,102,383 (GRCm39) splice site probably benign
R1464:Emc1 UTSW 4 139,098,248 (GRCm39) missense probably damaging 0.97
R1464:Emc1 UTSW 4 139,098,248 (GRCm39) missense probably damaging 0.97
R1512:Emc1 UTSW 4 139,087,495 (GRCm39) splice site probably null
R1702:Emc1 UTSW 4 139,102,512 (GRCm39) missense probably damaging 1.00
R1839:Emc1 UTSW 4 139,087,796 (GRCm39) missense probably damaging 0.98
R1843:Emc1 UTSW 4 139,102,823 (GRCm39) missense probably benign 0.02
R1850:Emc1 UTSW 4 139,086,684 (GRCm39) splice site probably benign
R2024:Emc1 UTSW 4 139,088,257 (GRCm39) missense possibly damaging 0.95
R2196:Emc1 UTSW 4 139,093,841 (GRCm39) missense probably benign 0.08
R2912:Emc1 UTSW 4 139,092,571 (GRCm39) missense possibly damaging 0.51
R3696:Emc1 UTSW 4 139,092,697 (GRCm39) missense possibly damaging 0.46
R3697:Emc1 UTSW 4 139,092,697 (GRCm39) missense possibly damaging 0.46
R3698:Emc1 UTSW 4 139,092,697 (GRCm39) missense possibly damaging 0.46
R3803:Emc1 UTSW 4 139,094,474 (GRCm39) missense possibly damaging 0.91
R3923:Emc1 UTSW 4 139,090,496 (GRCm39) nonsense probably null
R4738:Emc1 UTSW 4 139,089,513 (GRCm39) missense possibly damaging 0.52
R4914:Emc1 UTSW 4 139,102,476 (GRCm39) nonsense probably null
R5033:Emc1 UTSW 4 139,099,007 (GRCm39) missense probably damaging 1.00
R5322:Emc1 UTSW 4 139,081,557 (GRCm39) missense probably damaging 1.00
R5375:Emc1 UTSW 4 139,093,802 (GRCm39) missense probably damaging 0.96
R5483:Emc1 UTSW 4 139,102,687 (GRCm39) missense probably damaging 1.00
R5587:Emc1 UTSW 4 139,089,459 (GRCm39) missense probably damaging 0.98
R5687:Emc1 UTSW 4 139,102,691 (GRCm39) missense probably damaging 1.00
R5938:Emc1 UTSW 4 139,084,931 (GRCm39) missense probably benign
R6056:Emc1 UTSW 4 139,081,533 (GRCm39) missense possibly damaging 0.51
R6170:Emc1 UTSW 4 139,093,689 (GRCm39) missense probably benign 0.01
R6174:Emc1 UTSW 4 139,093,842 (GRCm39) missense probably benign 0.01
R6208:Emc1 UTSW 4 139,081,582 (GRCm39) missense probably damaging 0.99
R6340:Emc1 UTSW 4 139,092,874 (GRCm39) missense probably damaging 1.00
R6371:Emc1 UTSW 4 139,098,976 (GRCm39) nonsense probably null
R6889:Emc1 UTSW 4 139,092,661 (GRCm39) missense probably damaging 0.97
R7592:Emc1 UTSW 4 139,087,877 (GRCm39) missense probably benign 0.00
R7699:Emc1 UTSW 4 139,082,181 (GRCm39) missense probably benign
R7715:Emc1 UTSW 4 139,098,934 (GRCm39) missense probably damaging 1.00
R7984:Emc1 UTSW 4 139,102,760 (GRCm39) missense probably damaging 1.00
R8112:Emc1 UTSW 4 139,094,498 (GRCm39) missense probably benign 0.00
R8325:Emc1 UTSW 4 139,092,521 (GRCm39) missense possibly damaging 0.94
R8387:Emc1 UTSW 4 139,088,600 (GRCm39) missense probably benign
R8751:Emc1 UTSW 4 139,097,279 (GRCm39) missense possibly damaging 0.58
R9032:Emc1 UTSW 4 139,094,474 (GRCm39) missense possibly damaging 0.91
R9085:Emc1 UTSW 4 139,094,474 (GRCm39) missense possibly damaging 0.91
R9474:Emc1 UTSW 4 139,093,705 (GRCm39) missense probably damaging 0.98
R9482:Emc1 UTSW 4 139,088,201 (GRCm39) missense probably damaging 0.96
R9610:Emc1 UTSW 4 139,091,035 (GRCm39) missense probably benign 0.38
R9611:Emc1 UTSW 4 139,091,035 (GRCm39) missense probably benign 0.38
Posted On 2016-08-02