Incidental Mutation 'R5953:Emc7'
ID470985
Institutional Source Beutler Lab
Gene Symbol Emc7
Ensembl Gene ENSMUSG00000055943
Gene NameER membrane protein complex subunit 7
Synonyms
MMRRC Submission 043245-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.938) question?
Stock #R5953 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location112454997-112472162 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 112459558 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 111 (I111N)
Ref Sequence ENSEMBL: ENSMUSP00000068610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069747]
Predicted Effect probably damaging
Transcript: ENSMUST00000069747
AA Change: I111N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068610
Gene: ENSMUSG00000055943
AA Change: I111N

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 120,361,018 S675T probably damaging Het
Acvr2a T C 2: 48,890,404 L212P probably damaging Het
Adamts14 T C 10: 61,207,446 T751A probably damaging Het
Adgrf2 T C 17: 42,710,338 N532D probably damaging Het
Asns T C 6: 7,682,285 E220G probably benign Het
Cd209d A T 8: 3,877,979 probably null Het
Cenpp T C 13: 49,652,685 D2G probably damaging Het
Cenps C A 4: 149,130,201 probably benign Het
Clec4a3 G T 6: 122,969,492 V232L probably benign Het
Cntln C T 4: 85,049,919 H792Y possibly damaging Het
Cobl T A 11: 12,256,220 T470S probably benign Het
Cym T A 3: 107,213,467 D274V probably damaging Het
Elac2 G A 11: 64,999,223 C627Y probably benign Het
Eya4 T A 10: 23,151,973 Y310F probably damaging Het
Fam217b C T 2: 178,420,360 S39F probably damaging Het
Fam234b G T 6: 135,225,707 R353L possibly damaging Het
Focad A G 4: 88,229,335 I404V probably benign Het
Il1rl1 T A 1: 40,442,673 D180E probably benign Het
Il2rb A T 15: 78,484,982 C256* probably null Het
Intu A C 3: 40,679,550 L404F probably damaging Het
Jmy G A 13: 93,499,116 T64M possibly damaging Het
Mpl C A 4: 118,454,510 S302I possibly damaging Het
Mpl T A 4: 118,454,511 S302C probably damaging Het
Muc2 G T 7: 141,701,382 D241Y probably damaging Het
Nlrp3 C T 11: 59,546,791 H99Y probably benign Het
Olfr1474 A T 19: 13,471,368 I133F possibly damaging Het
Olfr812 C G 10: 129,842,614 V143L probably benign Het
Pglyrp1 A T 7: 18,890,313 I174F probably damaging Het
Pi4ka A T 16: 17,281,951 I1936N probably damaging Het
Plekhm3 C T 1: 64,937,895 E139K probably damaging Het
Pomk C A 8: 25,983,048 L292F probably damaging Het
Ptpru A G 4: 131,776,837 I1103T probably damaging Het
Pygl T C 12: 70,219,627 D38G probably damaging Het
Rapsn T C 2: 91,041,963 V214A probably benign Het
S100a9 T A 3: 90,692,927 K54M probably damaging Het
Sdk2 A G 11: 113,793,744 Y1964H probably damaging Het
Slc17a5 T C 9: 78,557,498 N331S probably damaging Het
Snx9 T A 17: 5,908,402 C252S probably damaging Het
Snx9 G T 17: 5,908,403 C252F probably damaging Het
Trem1 A T 17: 48,237,192 M82L probably benign Het
Other mutations in Emc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Emc7 APN 2 112464774 missense probably damaging 1.00
R0025:Emc7 UTSW 2 112459485 missense probably damaging 0.99
R0452:Emc7 UTSW 2 112466969 splice site probably benign
R0714:Emc7 UTSW 2 112462932 missense possibly damaging 0.93
R4524:Emc7 UTSW 2 112455264 missense probably damaging 0.99
R7643:Emc7 UTSW 2 112455279 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACGTGCTTTCAAACAGGG -3'
(R):5'- GTACTTTCCCTCTACAGTAAGTAACC -3'

Sequencing Primer
(F):5'- TTTCAAACAGGGAAAGACTAAGGTGC -3'
(R):5'- GGGGGATTCAATTTCAAAGCCTC -3'
Posted On2017-03-31