Incidental Mutation 'R6286:Ide'
ID 508254
Institutional Source Beutler Lab
Gene Symbol Ide
Ensembl Gene ENSMUSG00000056999
Gene Name insulin degrading enzyme
Synonyms 4833415K22Rik, 1300012G03Rik
MMRRC Submission 044456-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6286 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 37246142-37340010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37255409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 798 (Y798F)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000131070
AA Change: Y798F
SMART Domains Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: Y798F

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 98% (40/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 72,187,842 (GRCm39) M1300L probably damaging Het
C3 A T 17: 57,531,118 (GRCm39) I356N probably damaging Het
Cntnap5b T A 1: 100,182,798 (GRCm39) S276T possibly damaging Het
Cts7 C T 13: 61,500,584 (GRCm39) G321E probably damaging Het
Cyp11a1 G A 9: 57,924,701 (GRCm39) probably benign Het
Ddx4 T C 13: 112,750,269 (GRCm39) T421A probably damaging Het
Dnttip2 A G 3: 122,078,049 (GRCm39) T694A probably damaging Het
Eif3b G T 5: 140,405,566 (GRCm39) D151Y probably damaging Het
Fhad1 T A 4: 141,648,209 (GRCm39) E219V probably damaging Het
Gdf2 C T 14: 33,667,057 (GRCm39) R260C probably damaging Het
Gm14295 T C 2: 176,501,361 (GRCm39) Y284H possibly damaging Het
Gm45861 A G 8: 28,019,619 (GRCm39) T745A unknown Het
Grin2a G A 16: 9,579,639 (GRCm39) T208I possibly damaging Het
Llgl1 G A 11: 60,600,358 (GRCm39) G569D probably damaging Het
Mrpl9 G C 3: 94,351,097 (GRCm39) E92D probably benign Het
Muc16 T A 9: 18,555,685 (GRCm39) H3536L unknown Het
Nasp T C 4: 116,461,985 (GRCm39) Y526C probably damaging Het
Nfx1 A G 4: 40,986,728 (GRCm39) N404D probably damaging Het
Nsrp1 A G 11: 76,940,269 (GRCm39) I112T probably damaging Het
Or6c7 T C 10: 129,323,497 (GRCm39) L206P probably damaging Het
Or8b8 A T 9: 37,809,074 (GRCm39) I125F probably damaging Het
Oxsr1 A G 9: 119,093,948 (GRCm39) V235A probably damaging Het
Pamr1 C T 2: 102,471,293 (GRCm39) Q539* probably null Het
Pramel20 T A 4: 143,297,796 (GRCm39) V72D probably benign Het
Ptpn4 A G 1: 119,649,592 (GRCm39) probably null Het
Ranbp2 C T 10: 58,315,394 (GRCm39) A2038V probably benign Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Homo
Septin5 A G 16: 18,442,127 (GRCm39) V253A probably damaging Het
Skic3 T C 13: 76,291,359 (GRCm39) L993P probably damaging Het
Slc22a13 C A 9: 119,037,778 (GRCm39) E117* probably null Het
Slc9c1 T C 16: 45,398,194 (GRCm39) I653T probably benign Het
Slco6c1 T A 1: 97,053,445 (GRCm39) H152L possibly damaging Het
Sp2 A C 11: 96,852,372 (GRCm39) V184G probably benign Het
Taok1 T A 11: 77,444,599 (GRCm39) H492L probably benign Het
Tas2r110 G A 6: 132,845,490 (GRCm39) D174N probably benign Het
Trim24 G A 6: 37,896,426 (GRCm39) probably null Het
Ttn G A 2: 76,581,321 (GRCm39) R21445* probably null Het
Ttn A G 2: 76,605,967 (GRCm39) Y16502H probably damaging Het
Vmn2r84 A C 10: 130,226,737 (GRCm39) M367R possibly damaging Het
Zfp46 T C 4: 136,018,320 (GRCm39) S385P probably damaging Het
Other mutations in Ide
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Ide APN 19 37,253,931 (GRCm39) missense unknown
IGL01924:Ide APN 19 37,249,563 (GRCm39) missense unknown
IGL01925:Ide APN 19 37,255,296 (GRCm39) missense unknown
IGL02616:Ide APN 19 37,275,455 (GRCm39) missense unknown
R0738:Ide UTSW 19 37,255,364 (GRCm39) nonsense probably null
R1509:Ide UTSW 19 37,262,603 (GRCm39) critical splice donor site probably null
R1557:Ide UTSW 19 37,258,160 (GRCm39) splice site probably null
R2935:Ide UTSW 19 37,302,706 (GRCm39) missense unknown
R4260:Ide UTSW 19 37,306,585 (GRCm39) missense unknown
R4261:Ide UTSW 19 37,306,585 (GRCm39) missense unknown
R4575:Ide UTSW 19 37,249,604 (GRCm39) missense unknown
R4913:Ide UTSW 19 37,306,469 (GRCm39) missense unknown
R4933:Ide UTSW 19 37,255,155 (GRCm39) missense unknown
R4951:Ide UTSW 19 37,262,631 (GRCm39) missense unknown
R5102:Ide UTSW 19 37,292,383 (GRCm39) missense unknown
R5474:Ide UTSW 19 37,249,583 (GRCm39) missense unknown
R5502:Ide UTSW 19 37,307,855 (GRCm39) missense unknown
R5546:Ide UTSW 19 37,249,623 (GRCm39) missense unknown
R5601:Ide UTSW 19 37,292,379 (GRCm39) missense unknown
R5696:Ide UTSW 19 37,295,420 (GRCm39) missense unknown
R5884:Ide UTSW 19 37,249,552 (GRCm39) critical splice donor site probably null
R5983:Ide UTSW 19 37,249,549 (GRCm39) splice site probably null
R7146:Ide UTSW 19 37,273,343 (GRCm39) missense
R7224:Ide UTSW 19 37,268,160 (GRCm39) missense
R7234:Ide UTSW 19 37,268,184 (GRCm39) missense
R7695:Ide UTSW 19 37,306,435 (GRCm39) missense
R7771:Ide UTSW 19 37,275,525 (GRCm39) missense
R7811:Ide UTSW 19 37,307,910 (GRCm39) missense
R7893:Ide UTSW 19 37,261,550 (GRCm39) missense
R8289:Ide UTSW 19 37,290,953 (GRCm39) missense probably null
R8289:Ide UTSW 19 37,290,952 (GRCm39) missense
R8359:Ide UTSW 19 37,307,886 (GRCm39) missense
R8421:Ide UTSW 19 37,255,403 (GRCm39) missense
R8828:Ide UTSW 19 37,292,241 (GRCm39) missense
R8979:Ide UTSW 19 37,302,711 (GRCm39) missense
R9134:Ide UTSW 19 37,273,561 (GRCm39) intron probably benign
R9142:Ide UTSW 19 37,307,898 (GRCm39) missense
R9229:Ide UTSW 19 37,261,598 (GRCm39) missense
R9237:Ide UTSW 19 37,307,898 (GRCm39) missense
R9239:Ide UTSW 19 37,307,898 (GRCm39) missense
R9280:Ide UTSW 19 37,307,801 (GRCm39) intron probably benign
R9280:Ide UTSW 19 37,295,490 (GRCm39) missense
R9290:Ide UTSW 19 37,302,647 (GRCm39) missense
R9507:Ide UTSW 19 37,265,536 (GRCm39) missense
R9594:Ide UTSW 19 37,264,514 (GRCm39) missense
Z1176:Ide UTSW 19 37,292,890 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CAGTATTTAGCACACTCCGCAG -3'
(R):5'- TCAGGGAAACTTTCTGGTCC -3'

Sequencing Primer
(F):5'- TTAGCACACTCCGCAGAGAGTTTC -3'
(R):5'- GCCGAGGATGTACATGTA -3'
Posted On 2018-03-15