Incidental Mutation 'R1715:Emc8'
ID190940
Institutional Source Beutler Lab
Gene Symbol Emc8
Ensembl Gene ENSMUSG00000031819
Gene NameER membrane protein complex subunit 8
SynonymsCox4nb, Fam158b, Noc4
MMRRC Submission 039748-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.535) question?
Stock #R1715 (G1)
Quality Score148
Status Not validated
Chromosome8
Chromosomal Location120653914-120668573 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120658555 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 146 (N146S)
Ref Sequence ENSEMBL: ENSMUSP00000034277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034277] [ENSMUST00000127664] [ENSMUST00000180417] [ENSMUST00000181333] [ENSMUST00000181334] [ENSMUST00000181950]
Predicted Effect probably benign
Transcript: ENSMUST00000034277
AA Change: N146S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000034277
Gene: ENSMUSG00000031819
AA Change: N146S

DomainStartEndE-ValueType
Pfam:UPF0172 3 199 4.2e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180417
SMART Domains Protein: ENSMUSP00000137767
Gene: ENSMUSG00000031819

DomainStartEndE-ValueType
Pfam:UPF0172 1 103 1.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180909
Predicted Effect unknown
Transcript: ENSMUST00000181111
AA Change: N74S
Predicted Effect probably benign
Transcript: ENSMUST00000181333
SMART Domains Protein: ENSMUSP00000137785
Gene: ENSMUSG00000097919

DomainStartEndE-ValueType
Pfam:UPF0172 1 79 4.9e-29 PFAM
Pfam:DUF4597 93 155 2.5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181334
SMART Domains Protein: ENSMUSP00000137850
Gene: ENSMUSG00000031819

DomainStartEndE-ValueType
Pfam:UPF0172 1 101 6.8e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181474
Predicted Effect unknown
Transcript: ENSMUST00000181836
AA Change: N81S
Predicted Effect probably benign
Transcript: ENSMUST00000181950
SMART Domains Protein: ENSMUSP00000137970
Gene: ENSMUSG00000031819

DomainStartEndE-ValueType
Pfam:UPF0172 1 74 1.7e-29 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,199,824 probably null Het
2210010C04Rik A G 6: 41,032,936 probably null Het
2410089E03Rik T A 15: 8,226,900 probably null Het
Abca8a G A 11: 110,091,580 T12M probably damaging Het
Alms1 T A 6: 85,629,052 Y2561* probably null Het
Atp10a G A 7: 58,786,505 V348I probably damaging Het
Best2 T C 8: 85,011,223 Y181C probably benign Het
Btaf1 T A 19: 36,969,121 D442E probably damaging Het
C330027C09Rik C T 16: 49,005,719 T383I probably benign Het
Carmil3 T G 14: 55,504,532 V1153G probably benign Het
Cc2d2a A G 5: 43,718,661 I993M probably damaging Het
Ccng1 G A 11: 40,752,114 P169S probably benign Het
Cmtr2 T C 8: 110,222,798 L580P probably damaging Het
Col22a1 T C 15: 72,006,981 E109G possibly damaging Het
Crispld2 G T 8: 120,023,649 W264L possibly damaging Het
Cyp2c38 T C 19: 39,404,795 H276R probably benign Het
Dag1 A T 9: 108,208,715 V409E possibly damaging Het
Glt8d1 T C 14: 31,011,521 V321A possibly damaging Het
Gm5174 C T 10: 86,656,912 noncoding transcript Het
Hdac10 G T 15: 89,126,709 probably null Het
Hectd4 A G 5: 121,344,818 D3144G possibly damaging Het
Ifna11 C T 4: 88,820,236 S93L probably damaging Het
Il16 T C 7: 83,648,728 N431S probably benign Het
Irf8 A T 8: 120,754,388 E237V probably damaging Het
Lrp1b A G 2: 41,185,981 Y1769H probably damaging Het
Lrrc9 A G 12: 72,477,299 N761D probably damaging Het
Mbtps1 T C 8: 119,542,730 Y207C probably benign Het
Myo9a A G 9: 59,832,300 E765G probably damaging Het
Nlrp3 A G 11: 59,543,351 D80G probably damaging Het
Olfr361 G A 2: 37,085,176 P191S probably damaging Het
Olfr697 G C 7: 106,741,548 P129A probably damaging Het
Olfr830 A T 9: 18,875,794 I156F probably benign Het
Pcyt2 T A 11: 120,615,851 probably null Het
Plxnd1 T C 6: 115,968,681 T944A probably benign Het
Psd4 A T 2: 24,405,332 I833F probably damaging Het
Psmd7 A G 8: 107,581,185 I222T probably benign Het
Rap2b A G 3: 61,365,190 E45G probably damaging Het
Rbm22 T C 18: 60,560,844 S7P possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,651,666 probably benign Het
Rfx4 A G 10: 84,844,280 N107S probably damaging Het
Ripk2 T A 4: 16,155,192 probably null Het
Rpgrip1 T A 14: 52,140,691 C499S possibly damaging Het
Scarf1 T C 11: 75,524,044 S515P probably damaging Het
Sgip1 T C 4: 102,915,059 V215A probably benign Het
Sis T C 3: 72,889,010 I1813V possibly damaging Het
Slc17a3 A T 13: 23,856,741 T317S probably benign Het
Slc35e1 T C 8: 72,483,977 N340S probably benign Het
Smg6 A G 11: 74,929,430 I176V probably benign Het
Smim17 T C 7: 6,429,326 L89S probably damaging Het
Synm T C 7: 67,736,303 N95S probably damaging Het
Tdrd9 A G 12: 112,036,439 K841E possibly damaging Het
Tep1 G T 14: 50,854,567 F570L possibly damaging Het
Tgm3 G A 2: 130,026,814 probably null Het
Tra2b T C 16: 22,252,746 Y128C possibly damaging Het
Vmn2r17 T C 5: 109,428,244 V327A probably benign Het
Wdr20rt A T 12: 65,227,314 D344V probably damaging Het
Zfp940 A G 7: 29,844,938 C515R probably damaging Het
Other mutations in Emc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Emc8 APN 8 120659006 missense probably damaging 1.00
R0057:Emc8 UTSW 8 120659083 intron probably benign
R1512:Emc8 UTSW 8 120658244 missense possibly damaging 0.96
R3789:Emc8 UTSW 8 120658130 missense probably benign 0.06
R4668:Emc8 UTSW 8 120667779 missense probably damaging 1.00
R5418:Emc8 UTSW 8 120658603 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGCTGAAGCATCCATGCGAC -3'
(R):5'- TGGTGGTGGCCCAGTAAATACCAG -3'

Sequencing Primer
(F):5'- GCATCCATGCGACCAGAAAC -3'
(R):5'- ACTCTGCTCAGCTTTGTAGAAAGG -3'
Posted On2014-05-14