Incidental Mutation 'R0025:Emc7'
ID 40747
Institutional Source Beutler Lab
Gene Symbol Emc7
Ensembl Gene ENSMUSG00000055943
Gene Name ER membrane protein complex subunit 7
Synonyms 2900064A13Rik
MMRRC Submission 038320-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R0025 (G1)
Quality Score 206
Status Validated
Chromosome 2
Chromosomal Location 112285342-112302507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 112289830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 87 (D87Y)
Ref Sequence ENSEMBL: ENSMUSP00000068610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069747]
AlphaFold Q9EP72
Predicted Effect probably damaging
Transcript: ENSMUST00000069747
AA Change: D87Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068610
Gene: ENSMUSG00000055943
AA Change: D87Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 23 39 N/A INTRINSIC
Pfam:DUF2012 55 167 1.7e-37 PFAM
low complexity region 218 239 N/A INTRINSIC
Meta Mutation Damage Score 0.5858 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
Validation Efficiency 98% (115/117)
MGI Phenotype PHENOTYPE: Homozygous mice are not viable. Male heterozygous mice exhibited an increased anxiety-like response during stress-induced hyperthermia testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A T 7: 119,257,538 (GRCm39) T435S probably damaging Het
Agtpbp1 G A 13: 59,648,014 (GRCm39) T602I probably benign Het
Ahnak2 T A 12: 112,749,154 (GRCm39) D231V probably damaging Het
Ampd3 G A 7: 110,392,876 (GRCm39) D215N probably benign Het
Ankrd17 T C 5: 90,398,264 (GRCm39) D1762G probably damaging Het
Asb8 C T 15: 98,040,552 (GRCm39) V37I possibly damaging Het
Bicra T C 7: 15,721,436 (GRCm39) T694A possibly damaging Het
Btnl6 A T 17: 34,733,273 (GRCm39) M234K probably benign Het
Ccnb1 A T 13: 100,916,289 (GRCm39) V336D probably damaging Het
Cdca8 A T 4: 124,815,047 (GRCm39) L190Q possibly damaging Het
Cep290 A T 10: 100,373,693 (GRCm39) L1324F probably damaging Het
Ces1f T C 8: 93,998,513 (GRCm39) E161G probably benign Het
Ces2g A G 8: 105,692,628 (GRCm39) probably benign Het
Cfap74 C T 4: 155,510,572 (GRCm39) R386C probably benign Het
Clec3b A G 9: 122,986,090 (GRCm39) T163A probably benign Het
Cntnap4 T G 8: 113,529,796 (GRCm39) L668R probably damaging Het
Col27a1 A G 4: 63,194,214 (GRCm39) D857G probably damaging Het
Csf1 A G 3: 107,655,960 (GRCm39) V245A probably benign Het
Ctss A G 3: 95,457,448 (GRCm39) Y302C probably damaging Het
Cyb5d1 A G 11: 69,285,792 (GRCm39) probably null Het
Cyp1a2 A G 9: 57,589,344 (GRCm39) S157P probably damaging Het
Cyp2b9 A T 7: 25,900,238 (GRCm39) T349S probably benign Het
Dennd6b T C 15: 89,070,386 (GRCm39) I428V probably benign Het
Denr A G 5: 124,065,298 (GRCm39) probably benign Het
Dnah9 G A 11: 65,860,781 (GRCm39) probably benign Het
Dock3 G T 9: 106,790,467 (GRCm39) Q1419K possibly damaging Het
Dph3b-ps A T 13: 106,683,375 (GRCm39) noncoding transcript Het
Enah T C 1: 181,740,938 (GRCm39) E462G possibly damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Enpp6 A G 8: 47,519,035 (GRCm39) K268E probably damaging Het
Eps15l1 T G 8: 73,135,341 (GRCm39) probably benign Het
Fam151a T C 4: 106,605,371 (GRCm39) Y578H probably benign Het
Fmn2 T C 1: 174,618,880 (GRCm39) V1512A probably damaging Het
Focad C A 4: 88,327,196 (GRCm39) N168K probably benign Het
Fyco1 A G 9: 123,658,074 (GRCm39) C701R probably damaging Het
Gabbr1 G T 17: 37,378,102 (GRCm39) probably benign Het
Golga7b A T 19: 42,255,278 (GRCm39) E76V probably damaging Het
Gucy2d A G 7: 98,116,959 (GRCm39) D924G probably benign Het
H2-M9 A G 17: 36,952,647 (GRCm39) F133S probably damaging Het
Hc A G 2: 34,876,304 (GRCm39) Y1581H probably damaging Het
Herc3 C T 6: 58,851,293 (GRCm39) P514L probably damaging Het
Hormad1 T C 3: 95,492,436 (GRCm39) probably benign Het
Iigp1 T A 18: 60,523,859 (GRCm39) S326T possibly damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Kcnk7 T G 19: 5,757,042 (GRCm39) *344G probably null Het
Kif13a A G 13: 46,939,987 (GRCm39) probably null Het
Kif1a A C 1: 92,970,080 (GRCm39) I1027S probably damaging Het
Kif2c G T 4: 117,022,714 (GRCm39) H416Q probably damaging Het
Liat1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 11: 75,890,941 (GRCm39) probably benign Het
Map3k1 A G 13: 111,892,663 (GRCm39) V864A probably benign Het
Mark2 T C 19: 7,263,287 (GRCm39) D160G probably damaging Het
Mbd4 A G 6: 115,821,529 (GRCm39) probably null Het
Micu1 A G 10: 59,624,699 (GRCm39) probably null Het
Mink1 T C 11: 70,503,868 (GRCm39) W1263R probably damaging Het
Mov10 A C 3: 104,711,919 (GRCm39) L224R probably damaging Het
Ndel1 T C 11: 68,726,999 (GRCm39) E226G probably damaging Het
Neb A T 2: 52,112,786 (GRCm39) V4336E probably damaging Het
Nln T A 13: 104,173,399 (GRCm39) K602N probably damaging Het
Nlrp14 A T 7: 106,780,465 (GRCm39) probably benign Het
Nmd3 A T 3: 69,655,654 (GRCm39) D445V probably damaging Het
Nop14 T C 5: 34,801,297 (GRCm39) I625V probably benign Het
Notch1 T C 2: 26,360,943 (GRCm39) Q1134R probably damaging Het
Nr4a2 T C 2: 56,998,627 (GRCm39) I392M probably benign Het
Or13n4 A G 7: 106,422,963 (GRCm39) F257L possibly damaging Het
Or4f6 T A 2: 111,839,365 (GRCm39) L55F probably damaging Het
Or8b57 A G 9: 40,003,549 (GRCm39) S234P probably damaging Het
Osbp T C 19: 11,961,322 (GRCm39) Y454H probably damaging Het
Pak4 G A 7: 28,263,708 (GRCm39) R343C probably damaging Het
Pak5 T C 2: 135,942,704 (GRCm39) K479E possibly damaging Het
Pard3 C A 8: 127,888,058 (GRCm39) D73E probably damaging Het
Pcdh10 T C 3: 45,334,934 (GRCm39) V416A possibly damaging Het
Plek A C 11: 16,935,594 (GRCm39) W261G probably damaging Het
Pmp22 A T 11: 63,049,076 (GRCm39) probably null Het
Prph2 A C 17: 47,230,697 (GRCm39) K197Q probably benign Het
Prss45 T A 9: 110,669,962 (GRCm39) L257Q probably damaging Het
Psmb6 C A 11: 70,417,171 (GRCm39) H73Q probably benign Het
Rin2 T C 2: 145,720,752 (GRCm39) probably benign Het
Rps6kb1 A T 11: 86,402,413 (GRCm39) probably null Het
Scn10a C A 9: 119,499,550 (GRCm39) D248Y probably damaging Het
Scn4a C T 11: 106,215,386 (GRCm39) V1197I probably benign Het
Siglecf A T 7: 43,001,349 (GRCm39) I106F probably benign Het
Sik1 A G 17: 32,066,249 (GRCm39) probably benign Het
Slc22a21 T G 11: 53,870,514 (GRCm39) N57T probably damaging Het
Slc36a2 A G 11: 55,053,621 (GRCm39) L339P probably damaging Het
Slc4a9 G T 18: 36,664,719 (GRCm39) probably benign Het
Smg1 G A 7: 117,811,666 (GRCm39) T104I possibly damaging Het
Stc2 A T 11: 31,315,559 (GRCm39) probably null Het
Stx18 T A 5: 38,249,908 (GRCm39) Y74N probably damaging Het
Stxbp5 A T 10: 9,638,492 (GRCm39) H1102Q probably damaging Het
Tnfaip8l2 G A 3: 95,047,339 (GRCm39) L175F probably damaging Het
Tom1l2 T C 11: 60,120,960 (GRCm39) K450E probably damaging Het
Tpo T C 12: 30,150,389 (GRCm39) Q497R probably benign Het
Tprg1l G T 4: 154,244,802 (GRCm39) probably benign Het
Triml2 A G 8: 43,638,469 (GRCm39) M146V probably benign Het
Tsc2 A G 17: 24,849,978 (GRCm39) probably benign Het
Tut7 A T 13: 59,953,142 (GRCm39) D99E probably benign Het
Vit G A 17: 78,907,264 (GRCm39) G229R probably benign Het
Vmn2r19 C T 6: 123,308,506 (GRCm39) L528F probably benign Het
Vwf T A 6: 125,659,775 (GRCm39) I2658N probably benign Het
Wdfy3 T C 5: 101,992,912 (GRCm39) D3341G probably damaging Het
Wdr36 T A 18: 32,992,360 (GRCm39) D632E probably damaging Het
Wdr47 G T 3: 108,545,307 (GRCm39) A733S probably damaging Het
Zfp458 T A 13: 67,405,962 (GRCm39) H156L probably damaging Het
Zfp654 A G 16: 64,605,181 (GRCm39) V466A probably benign Het
Zfp804b T C 5: 6,821,665 (GRCm39) E466G probably damaging Het
Zfp941 T C 7: 140,393,185 (GRCm39) D58G probably benign Het
Other mutations in Emc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Emc7 APN 2 112,295,119 (GRCm39) missense probably damaging 1.00
R0452:Emc7 UTSW 2 112,297,314 (GRCm39) splice site probably benign
R0714:Emc7 UTSW 2 112,293,277 (GRCm39) missense possibly damaging 0.93
R4524:Emc7 UTSW 2 112,285,609 (GRCm39) missense probably damaging 0.99
R5953:Emc7 UTSW 2 112,289,903 (GRCm39) missense probably damaging 1.00
R7643:Emc7 UTSW 2 112,285,624 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTGGAGCATAAAATGTAGGGCCAAC -3'
(R):5'- AGCCTCAGTGCTCAGATTACAAACAAG -3'

Sequencing Primer
(F):5'- gggaagaggggcagaaac -3'
(R):5'- ACTGTGGTTTAAGTAAGAAACTCTC -3'
Posted On 2013-05-23