Incidental Mutation 'R8325:Emc1'
ID 644039
Institutional Source Beutler Lab
Gene Symbol Emc1
Ensembl Gene ENSMUSG00000078517
Gene Name ER membrane protein complex subunit 1
Synonyms C230096C10Rik
MMRRC Submission 067857-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R8325 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 139352587-139378730 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139365210 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 487 (M487K)
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: M484K

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: M484K

DomainStartEndE-ValueType
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: M487K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: M487K

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: M487K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: M487K

DomainStartEndE-ValueType
Pfam:PQQ_2 21 258 5.3e-9 PFAM
Pfam:DUF1620 790 996 1.1e-66 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (51/51)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr T C 15: 89,569,751 (GRCm38) V97A probably benign Het
Agrn C T 4: 156,173,662 (GRCm38) G1081D probably benign Het
Ang2 A G 14: 51,195,503 (GRCm38) S141P probably damaging Het
Ap3b2 T C 7: 81,484,489 (GRCm38) probably null Het
Apba2 A T 7: 64,695,982 (GRCm38) T307S probably benign Het
AU019823 T C 9: 50,610,308 (GRCm38) I104M probably benign Het
Cadm2 T A 16: 66,815,450 (GRCm38) N84Y possibly damaging Het
Camsap1 T C 2: 25,939,363 (GRCm38) D783G probably benign Het
Ccdc62 T C 5: 123,954,385 (GRCm38) C478R probably benign Het
Cep290 A C 10: 100,517,808 (GRCm38) H801P probably benign Het
Chfr T A 5: 110,162,763 (GRCm38) Y555* probably null Het
Cmas T C 6: 142,771,339 (GRCm38) probably null Het
Cmtm7 T C 9: 114,763,347 (GRCm38) I61V probably benign Het
Cyb5d2 A G 11: 72,778,825 (GRCm38) S236P possibly damaging Het
Dcp1b C T 6: 119,215,436 (GRCm38) Q438* probably null Het
Dgcr8 T C 16: 18,258,285 (GRCm38) Q678R probably damaging Het
Gm7361 T C 5: 26,262,156 (GRCm38) S258P probably damaging Het
Hbs1l A G 10: 21,307,649 (GRCm38) I96M probably benign Het
Ifi27l2a G A 12: 103,442,885 (GRCm38) A49V unknown Het
Igkv10-96 T C 6: 68,632,104 (GRCm38) Y69C possibly damaging Het
Igsf10 A T 3: 59,318,533 (GRCm38) V2573D probably damaging Het
Kcng3 T C 17: 83,631,578 (GRCm38) N14S possibly damaging Het
Kif20a A G 18: 34,626,922 (GRCm38) T94A possibly damaging Het
Lcp2 T A 11: 34,082,394 (GRCm38) V324E probably benign Het
Lmod3 T C 6: 97,247,418 (GRCm38) K481E probably benign Het
Met A G 6: 17,571,672 (GRCm38) E1330G probably damaging Het
Mroh1 GCCCAGGCCCC GCC 15: 76,432,215 (GRCm38) probably null Het
Mss51 T C 14: 20,484,703 (GRCm38) D333G possibly damaging Het
Nav3 A G 10: 109,705,603 (GRCm38) V1933A probably benign Het
Nbas A G 12: 13,288,795 (GRCm38) Y212C probably damaging Het
Npsr1 C T 9: 24,286,822 (GRCm38) probably benign Het
Nt5e A G 9: 88,363,562 (GRCm38) E295G probably benign Het
Olfr1160 A T 2: 88,006,193 (GRCm38) L186Q probably damaging Het
Olfr449 T C 6: 42,838,190 (GRCm38) F103S probably damaging Het
Papss1 A G 3: 131,582,611 (GRCm38) T136A probably benign Het
Pcdha1 A T 18: 36,930,814 (GRCm38) D177V possibly damaging Het
Pcolce2 A T 9: 95,692,920 (GRCm38) S308C probably damaging Het
Pdhx G T 2: 103,042,252 (GRCm38) P162T probably benign Het
Plin3 C T 17: 56,286,268 (GRCm38) R98Q probably benign Het
Prr36 T C 8: 4,212,982 (GRCm38) T895A probably benign Het
Repin1 G T 6: 48,597,345 (GRCm38) E403* probably null Het
Rnf213 A G 11: 119,430,445 (GRCm38) N1243S Het
Serpinb1b A T 13: 33,093,601 (GRCm38) K272N probably benign Het
Sez6l A T 5: 112,428,116 (GRCm38) probably null Het
Syne1 A T 10: 5,146,257 (GRCm38) M739K probably benign Het
Tbc1d9 G A 8: 83,240,038 (GRCm38) probably null Het
Trp53inp1 A G 4: 11,164,561 (GRCm38) D35G probably damaging Het
Trpc7 A G 13: 56,804,711 (GRCm38) V549A probably damaging Het
Usp18 T C 6: 121,253,810 (GRCm38) L66S probably damaging Het
Vmn1r238 C T 18: 3,122,529 (GRCm38) S295N probably benign Het
Vmn2r29 T C 7: 7,241,942 (GRCm38) D311G probably damaging Het
Vmn2r91 C A 17: 18,136,363 (GRCm38) A764D probably damaging Het
Wdfy4 T A 14: 32,967,487 (GRCm38) I3031F Het
Wdr7 A G 18: 63,778,464 (GRCm38) probably null 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
R1843:Emc1 UTSW 4 139,375,512 (GRCm38) missense probably benign 0.02
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
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'- GATTCTAGGTAGGTGAAGTCCTAG -3'
(R):5'- AGGCTGTTACCGTCACCATC -3'

Sequencing Primer
(F):5'- TAGGTGAAGTCCTAGGAGCC -3'
(R):5'- ACCATCATTTTCTGCAGGTTGAAC -3'
Posted On 2020-09-02