Incidental Mutation 'R6170:Emc1'
ID 490370
Institutional Source Beutler Lab
Gene Symbol Emc1
Ensembl Gene ENSMUSG00000078517
Gene Name ER membrane protein complex subunit 1
Synonyms C230096C10Rik
MMRRC Submission 044431-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R6170 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 139352587-139378730 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139366378 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 600 (T600A)
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: T597A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: T597A

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: T600A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: T600A

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: T600A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: T600A

DomainStartEndE-ValueType
Pfam:PQQ_2 21 258 5.3e-9 PFAM
Pfam:DUF1620 790 996 1.1e-66 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (68/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,348,572 (GRCm38) S90R probably benign Het
4930430A15Rik A G 2: 111,227,948 (GRCm38) Y167H probably benign Het
4930523C07Rik C A 1: 160,075,173 (GRCm38) N4K possibly damaging Het
Adgrl2 A G 3: 148,823,009 (GRCm38) S1167P probably damaging Het
Akr1e1 T C 13: 4,602,724 (GRCm38) D94G possibly damaging Het
Anln T C 9: 22,368,497 (GRCm38) N466D probably benign Het
Atp9b T A 18: 80,877,347 (GRCm38) I231L probably benign Het
Bpifb3 T A 2: 153,919,637 (GRCm38) M2K unknown Het
Btbd3 T C 2: 138,278,942 (GRCm38) L12P probably damaging Het
Btnl6 T A 17: 34,515,506 (GRCm38) Y94F probably damaging Het
Cab39 T A 1: 85,818,455 (GRCm38) L19* probably null Het
Cacna2d2 A G 9: 107,527,334 (GRCm38) D1114G probably damaging Het
Cdcp3 A T 7: 131,174,487 (GRCm38) probably null Het
Cdh11 A G 8: 102,634,810 (GRCm38) V632A probably benign Het
Cemip T G 7: 83,947,230 (GRCm38) T1109P possibly damaging Het
Col7a1 C A 9: 108,966,443 (GRCm38) P1522Q unknown Het
Colgalt1 C T 8: 71,621,870 (GRCm38) L409F probably damaging Het
Crtc2 A G 3: 90,259,600 (GRCm38) M125V probably benign Het
Cyp2b19 T G 7: 26,759,094 (GRCm38) M78R possibly damaging Het
Cyp4a12a A C 4: 115,327,446 (GRCm38) D308A possibly damaging Het
D16Ertd472e T C 16: 78,545,267 (GRCm38) T242A probably benign Het
Ddah1 A G 3: 145,891,506 (GRCm38) D166G probably benign Het
Dmtn T C 14: 70,617,355 (GRCm38) D60G probably damaging Het
Dsg1a A T 18: 20,335,986 (GRCm38) D607V probably damaging Het
Ebf1 T A 11: 44,883,885 (GRCm38) N236K probably damaging Het
Fbxo33 T C 12: 59,204,649 (GRCm38) N360S probably benign Het
Fbxw5 A G 2: 25,503,603 (GRCm38) D72G possibly damaging Het
Fhad1 T A 4: 141,890,952 (GRCm38) K1388* probably null Het
Fzd7 A G 1: 59,483,845 (GRCm38) M296V probably benign Het
Gdpd3 T C 7: 126,771,164 (GRCm38) I257T probably benign Het
Glt28d2 T G 3: 85,871,941 (GRCm38) D75A possibly damaging Het
Gm14295 G A 2: 176,811,144 (GRCm38) probably benign Het
Gm28729 A G 9: 96,519,441 (GRCm38) I98T probably damaging Het
Gm4924 C T 10: 82,377,231 (GRCm38) Q288* probably null Het
Gpr150 T C 13: 76,056,557 (GRCm38) M90V probably damaging Het
Ireb2 G A 9: 54,887,372 (GRCm38) V331I probably benign Het
Lpcat2b A T 5: 107,433,894 (GRCm38) Y363F probably benign Het
Me2 T C 18: 73,785,781 (GRCm38) I410V probably benign Het
Naxe T C 3: 88,058,230 (GRCm38) E58G probably damaging Het
Nlrp10 T A 7: 108,924,464 (GRCm38) D603V probably benign Het
Nlrp1b T A 11: 71,156,079 (GRCm38) Y1149F probably damaging Het
Nrg1 A G 8: 31,818,480 (GRCm38) Y503H probably damaging Het
Nxpe4 C T 9: 48,392,804 (GRCm38) P64S probably benign Het
Pkd1l3 A T 8: 109,623,179 (GRCm38) T219S unknown Het
Plagl1 T C 10: 13,127,231 (GRCm38) L81P probably damaging Het
Poglut3 T C 9: 53,399,742 (GRCm38) V481A possibly damaging Het
Polq A G 16: 37,045,812 (GRCm38) Q457R possibly damaging Het
Ppargc1a C A 5: 51,473,911 (GRCm38) A459S probably damaging Het
Ppp1r13l A G 7: 19,370,437 (GRCm38) D253G probably benign Het
Prl2c2 T A 13: 13,002,172 (GRCm38) N55Y probably damaging Het
Prlr T C 15: 10,328,849 (GRCm38) F470S probably benign Het
Serpina12 T C 12: 104,038,241 (GRCm38) D44G probably benign Het
Sfxn1 T G 13: 54,106,507 (GRCm38) S291R probably benign Het
Sipa1l1 A G 12: 82,341,672 (GRCm38) D224G probably benign Het
Slc30a7 A G 3: 115,990,743 (GRCm38) F123S probably damaging Het
Spata31f1a A G 4: 42,849,345 (GRCm38) V937A probably benign Het
Stox2 T A 8: 47,192,020 (GRCm38) M802L probably benign Het
Tmem150a G A 6: 72,356,745 (GRCm38) R30H probably benign Het
Tmem210 G A 2: 25,288,764 (GRCm38) probably null Het
Tor3a T C 1: 156,656,573 (GRCm38) N269S possibly damaging Het
Trp63 A C 16: 25,884,853 (GRCm38) N423T probably benign Het
Vmn2r60 A G 7: 42,135,621 (GRCm38) I86V possibly damaging Het
Vmn2r74 T C 7: 85,957,140 (GRCm38) I333V probably benign Het
Vwa7 C A 17: 35,021,210 (GRCm38) H385N possibly damaging Het
Wdr1 T C 5: 38,529,671 (GRCm38) probably null Het
Wdr31 A G 4: 62,463,424 (GRCm38) Y57H probably damaging Het
Zbtb44 T A 9: 31,053,382 (GRCm38) H29Q probably damaging Het
Zfp532 T A 18: 65,624,438 (GRCm38) S481T probably damaging Het
Zfp955b G T 17: 33,302,110 (GRCm38) R184S probably benign 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
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'- GCTAGACTTGGAGCTGGAAG -3'
(R):5'- ACAACAAACGGGCTGTCTG -3'

Sequencing Primer
(F):5'- GAAGCAGTCCCATCAGCCTAGG -3'
(R):5'- CAACAAACGGGCTGTCTGGTATG -3'
Posted On 2017-10-10