Incidental Mutation 'IGL03211:Emc2'
ID413299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emc2
Ensembl Gene ENSMUSG00000022337
Gene NameER membrane protein complex subunit 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.921) question?
Stock #IGL03211
Quality Score
Status
Chromosome15
Chromosomal Location43477229-43527763 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 43507672 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 131 (R131*)
Ref Sequence ENSEMBL: ENSMUSP00000022962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022962]
Predicted Effect probably null
Transcript: ENSMUST00000022962
AA Change: R131*
SMART Domains Protein: ENSMUSP00000022962
Gene: ENSMUSG00000022337
AA Change: R131*

DomainStartEndE-ValueType
coiled coil region 13 36 N/A INTRINSIC
Pfam:TPR_2 88 120 6.8e-5 PFAM
Pfam:TPR_19 98 151 5.9e-8 PFAM
Pfam:TPR_19 131 198 3.7e-8 PFAM
Pfam:TPR_2 155 188 2.4e-6 PFAM
Pfam:TPR_8 155 188 1.4e-4 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp7 C T 2: 172,872,883 V378I possibly damaging Het
Cd209b G T 8: 3,918,830 probably benign Het
Cilp A T 9: 65,280,175 Q1184L probably benign Het
Cysltr2 A T 14: 73,029,715 M185K possibly damaging Het
Dcaf6 A G 1: 165,422,933 F121L possibly damaging Het
Dnajc8 T A 4: 132,544,737 Y95N possibly damaging Het
Ebf3 A G 7: 137,231,304 V214A probably benign Het
Elavl3 A G 9: 22,018,678 V310A probably damaging Het
Hcn4 G A 9: 58,858,151 V639M unknown Het
Kif21a T G 15: 90,997,963 D46A possibly damaging Het
Kitl T C 10: 100,080,859 S175P probably benign Het
Klhl32 C T 4: 24,792,616 probably null Het
Plcg1 C T 2: 160,759,691 T972I possibly damaging Het
Prdm13 T C 4: 21,678,492 H666R probably damaging Het
Rap1gap G A 4: 137,715,846 probably null Het
Rdh7 T C 10: 127,887,623 N121S probably benign Het
Ric8b T A 10: 85,001,793 I488N probably damaging Het
Slc38a2 A T 15: 96,698,272 probably null Het
Slc9a9 G A 9: 95,137,990 probably benign Het
Tk2 T A 8: 104,243,441 I64F probably damaging Het
Virma G A 4: 11,548,770 W1776* probably null Het
Vrk1 C T 12: 106,036,588 A15V probably benign Het
Wdfy3 T C 5: 101,844,912 probably benign Het
Wfdc10 T C 2: 164,657,252 V94A probably benign Het
Zfp780b A T 7: 27,963,175 C652S possibly damaging Het
Other mutations in Emc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Emc2 APN 15 43511749 missense probably damaging 1.00
IGL02815:Emc2 APN 15 43507930 splice site probably benign
IGL03238:Emc2 APN 15 43507853 splice site probably null
R0433:Emc2 UTSW 15 43497124 splice site probably null
R1965:Emc2 UTSW 15 43527467 missense probably damaging 1.00
R2373:Emc2 UTSW 15 43513758 missense probably damaging 1.00
R2507:Emc2 UTSW 15 43511698 critical splice acceptor site probably null
R4986:Emc2 UTSW 15 43511784 missense probably benign 0.29
R5212:Emc2 UTSW 15 43510844 missense probably damaging 1.00
R5368:Emc2 UTSW 15 43511811 critical splice donor site probably null
R5751:Emc2 UTSW 15 43497057 splice site probably null
R8136:Emc2 UTSW 15 43511806 missense probably benign 0.07
Posted On2016-08-02