Incidental Mutation 'IGL00422:Ide'
ID332377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ide
Ensembl Gene ENSMUSG00000056999
Gene Nameinsulin degrading enzyme
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00422
Quality Score
Status
Chromosome19
Chromosomal Location37268743-37337852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37276532 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 903 (I903V)
Gene Model predicted gene model for transcript(s):
Predicted Effect unknown
Transcript: ENSMUST00000131070
AA Change: I903V
SMART Domains Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: I903V

DomainStartEndE-ValueType
Pfam:Peptidase_M16 42 180 8.1e-49 PFAM
Pfam:Peptidase_M16_C 205 385 2.1e-25 PFAM
Pfam:Peptidase_M16_M 389 671 1.9e-106 PFAM
Pfam:Peptidase_M16_C 674 857 9.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154339
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a disruption of this gene display beta amyloid accumulations in the brain, hyperinsulinemia and glucose intolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Ajuba A T 14: 54,571,769 Y400* probably null Het
Cckar T A 5: 53,699,829 D342V possibly damaging Het
Cdc123 A G 2: 5,798,449 V253A probably benign Het
Cep162 T C 9: 87,227,167 D461G probably benign Het
Chd7 G A 4: 8,859,106 E2399K probably damaging Het
Cln8 G A 8: 14,896,637 C217Y probably benign Het
Dchs1 A G 7: 105,758,029 V2119A possibly damaging Het
Dhx33 T C 11: 71,001,620 S108G probably benign Het
Dip2a T A 10: 76,313,236 M194L probably benign Het
Dnah11 T C 12: 118,068,096 K1779R probably damaging Het
Fads3 T G 19: 10,055,681 F328V possibly damaging Het
Flad1 A G 3: 89,405,853 probably null Het
Gm5346 A G 8: 43,626,351 F279L probably damaging Het
Gm7535 G T 17: 17,911,888 probably benign Het
Gnpat A G 8: 124,885,013 E513G probably damaging Het
H2-M5 A G 17: 36,987,840 I238T probably damaging Het
Hoxd12 G A 2: 74,675,427 R114Q probably damaging Het
Ifi209 T G 1: 173,638,963 D120E possibly damaging Het
Map3k10 T C 7: 27,668,469 D248G probably damaging Het
Mat2b C A 11: 40,687,738 G41C probably damaging Het
Mfsd4a T C 1: 132,040,594 I369V probably benign Het
Myom1 T A 17: 71,126,098 V1480E probably damaging Het
Myom2 A T 8: 15,069,490 D127V probably damaging Het
Olfml2b T A 1: 170,669,066 V422E probably damaging Het
Pkn3 G A 2: 30,081,104 A228T probably damaging Het
Rad17 A T 13: 100,629,525 I365K probably benign Het
Rad17 A T 13: 100,629,523 S366T probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Slco1a6 A C 6: 142,161,017 C15G probably benign Het
Spag9 T A 11: 94,097,866 F571I probably benign Het
Ttc27 T A 17: 74,780,816 C459S probably damaging Het
Washc2 A G 6: 116,256,676 T888A probably benign Het
Zcchc7 A T 4: 44,931,318 H490L possibly damaging Het
Other mutations in Ide
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01924:Ide APN 19 37272164 missense unknown
IGL01925:Ide APN 19 37277897 missense unknown
IGL02616:Ide APN 19 37298056 missense unknown
R0738:Ide UTSW 19 37277965 nonsense probably null
R1509:Ide UTSW 19 37285204 critical splice donor site probably null
R1557:Ide UTSW 19 37280761 splice site probably null
R2935:Ide UTSW 19 37325307 missense unknown
R4260:Ide UTSW 19 37329186 missense unknown
R4261:Ide UTSW 19 37329186 missense unknown
R4575:Ide UTSW 19 37272205 missense unknown
R4913:Ide UTSW 19 37329070 missense unknown
R4933:Ide UTSW 19 37277756 missense unknown
R4951:Ide UTSW 19 37285232 missense unknown
R5102:Ide UTSW 19 37314984 missense unknown
R5474:Ide UTSW 19 37272184 missense unknown
R5502:Ide UTSW 19 37330456 missense unknown
R5546:Ide UTSW 19 37272224 missense unknown
R5601:Ide UTSW 19 37314980 missense unknown
R5696:Ide UTSW 19 37318021 missense unknown
R5884:Ide UTSW 19 37272153 critical splice donor site probably null
R5983:Ide UTSW 19 37272150 splice site probably null
R6286:Ide UTSW 19 37278010 missense unknown
R7146:Ide UTSW 19 37295944 missense
R7224:Ide UTSW 19 37290761 missense
R7234:Ide UTSW 19 37290785 missense
Posted On2015-08-05