Incidental Mutation 'R5322:Emc1'
ID 404892
Institutional Source Beutler Lab
Gene Symbol Emc1
Ensembl Gene ENSMUSG00000078517
Gene Name ER membrane protein complex subunit 1
Synonyms C230096C10Rik
MMRRC Submission 042905-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R5322 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 139352587-139378730 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139354246 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 62 (N62Y)
Ref Sequence ENSEMBL: ENSMUSP00000080888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030513] [ENSMUST00000042096] [ENSMUST00000082262] [ENSMUST00000102503] [ENSMUST00000147999] [ENSMUST00000155257] [ENSMUST00000179784]
AlphaFold Q8C7X2
Predicted Effect probably benign
Transcript: ENSMUST00000030513
SMART Domains Protein: ENSMUSP00000030513
Gene: ENSMUSG00000028741

DomainStartEndE-ValueType
Pfam:Ribosomal_L10 18 121 7.9e-23 PFAM
low complexity region 222 238 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000042096
AA Change: N62Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517
AA Change: N62Y

DomainStartEndE-ValueType
Pfam:PQQ_2 21 258 5.3e-9 PFAM
Pfam:DUF1620 787 993 1.1e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000082262
AA Change: N62Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517
AA Change: N62Y

DomainStartEndE-ValueType
Pfam:PQQ_2 21 258 4.7e-10 PFAM
Pfam:DUF1620 791 996 1.1e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102503
SMART Domains Protein: ENSMUSP00000099561
Gene: ENSMUSG00000028741

DomainStartEndE-ValueType
Pfam:Ribosomal_L10 18 121 4.6e-24 PFAM
low complexity region 223 239 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144335
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: ENSMUST00000155257
SMART Domains Protein: ENSMUSP00000121453
Gene: ENSMUSG00000028741

DomainStartEndE-ValueType
Pfam:Ribosomal_L10 1 61 4.9e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179784
AA Change: N62Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517
AA Change: N62Y

DomainStartEndE-ValueType
Pfam:PQQ_2 21 258 5.3e-9 PFAM
Pfam:DUF1620 790 996 1.1e-66 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190002N15Rik A G 9: 94,520,562 (GRCm38) I349T probably benign Het
Adamts3 C T 5: 89,707,300 (GRCm38) probably null Het
Ankar T C 1: 72,690,386 (GRCm38) probably null Het
Ankrd60 T A 2: 173,568,817 (GRCm38) K303N possibly damaging Het
Appbp2 A G 11: 85,196,064 (GRCm38) probably null Het
Arvcf T C 16: 18,397,643 (GRCm38) M176T probably benign Het
Cachd1 T C 4: 100,952,122 (GRCm38) I268T probably damaging Het
Ccdc66 A G 14: 27,482,527 (GRCm38) S933P probably damaging Het
Cfi C T 3: 129,873,040 (GRCm38) P471S probably damaging Het
Ckmt2 G T 13: 91,861,772 (GRCm38) T143K possibly damaging Het
Cnksr3 A T 10: 7,135,078 (GRCm38) D15E probably damaging Het
Copb2 A T 9: 98,585,976 (GRCm38) K680N probably benign Het
D2hgdh T C 1: 93,829,898 (GRCm38) probably null Het
Dcn A T 10: 97,517,602 (GRCm38) T338S probably benign Het
Dnah10 G A 5: 124,773,566 (GRCm38) G1644D probably damaging Het
Dnah5 A G 15: 28,384,244 (GRCm38) I3045V probably benign Het
Dock3 G A 9: 106,901,829 (GRCm38) T307I probably benign Het
Dock5 A T 14: 67,770,266 (GRCm38) I1498N probably benign Het
Enpp6 C A 8: 47,068,915 (GRCm38) H295N probably benign Het
Epha10 A G 4: 124,885,748 (GRCm38) Y129C probably damaging Het
Fbn2 A T 18: 58,039,315 (GRCm38) D2139E probably benign Het
Fbxl12 A T 9: 20,639,008 (GRCm38) V140E probably damaging Het
Fignl1 A T 11: 11,801,571 (GRCm38) F495I probably damaging Het
Gm43302 C T 5: 105,217,481 (GRCm38) A554T probably benign Het
Gpr157 A G 4: 150,098,852 (GRCm38) N160D probably benign Het
Il1rn G A 2: 24,348,629 (GRCm38) probably null Het
Kctd13 T A 7: 126,929,206 (GRCm38) L51Q probably damaging Het
Kndc1 T C 7: 139,936,809 (GRCm38) F1561L probably damaging Het
Mast2 A G 4: 116,333,411 (GRCm38) probably null Het
Mib1 A G 18: 10,792,975 (GRCm38) H637R probably damaging Het
Moxd1 A T 10: 24,244,253 (GRCm38) N93I possibly damaging Het
Mycbp2 T C 14: 103,185,683 (GRCm38) probably null Het
Myot T C 18: 44,354,149 (GRCm38) F351S probably benign Het
N4bp2 T A 5: 65,790,457 (GRCm38) N143K possibly damaging Het
Olfr1018 T A 2: 85,823,187 (GRCm38) I72N probably damaging Het
Olfr147 A T 9: 38,403,566 (GRCm38) I228F probably damaging Het
Olfr243 T A 7: 103,717,112 (GRCm38) W173R probably benign Het
Olfr455 T C 6: 42,539,016 (GRCm38) D2G probably benign Het
Olfr623 T C 7: 103,660,672 (GRCm38) I193V possibly damaging Het
Olfr666 C T 7: 104,893,164 (GRCm38) V155I probably benign Het
Olfr917 T A 9: 38,665,206 (GRCm38) I213L probably benign Het
Patl1 C T 19: 11,920,859 (GRCm38) R134* probably null Het
Paxbp1 T C 16: 91,015,162 (GRCm38) I887V probably benign Het
Pi4kb G A 3: 94,994,249 (GRCm38) R436Q probably benign Het
Pla2g3 A G 11: 3,488,686 (GRCm38) E112G probably benign Het
Ppp2r2a A G 14: 67,038,873 (GRCm38) probably null Het
Rela T A 19: 5,645,380 (GRCm38) S311R possibly damaging Het
Sidt1 T A 16: 44,281,622 (GRCm38) probably benign Het
Smco2 T C 6: 146,871,287 (GRCm38) L329P probably damaging Het
Speer4f1 A T 5: 17,477,349 (GRCm38) I77F possibly damaging Het
Tex14 A G 11: 87,511,472 (GRCm38) I462V probably benign Het
Tmem260 C T 14: 48,486,849 (GRCm38) R385W probably damaging Het
Trrap T C 5: 144,844,224 (GRCm38) V2974A probably damaging Het
Usp47 C T 7: 112,053,269 (GRCm38) T31I probably damaging Het
Zc2hc1a A G 3: 7,551,421 (GRCm38) N247S probably benign Het
Zeb2 A C 2: 44,997,095 (GRCm38) M582R probably damaging 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
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'- ACGTTGCACAGAACTCTTGC -3'
(R):5'- AATTACAAAGGCAGTGCGAC -3'

Sequencing Primer
(F):5'- GCACAGAACTCTTGCGTATG -3'
(R):5'- GTGCGACAAATTTACCCAGTG -3'
Posted On 2016-07-22