Incidental Mutation 'R4913:Ide'
ID 379762
Institutional Source Beutler Lab
Gene Symbol Ide
Ensembl Gene ENSMUSG00000056999
Gene Name insulin degrading enzyme
Synonyms 4833415K22Rik, 1300012G03Rik
MMRRC Submission 042515-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4913 (G1)
Quality Score 204
Status Not validated
Chromosome 19
Chromosomal Location 37246142-37340010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37306469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 101 (H101Q)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000131070
AA Change: H101Q
SMART Domains Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: H101Q

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: ENSMUST00000154308
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T A 4: 144,255,381 (GRCm39) M267K possibly damaging Het
Acsm5 T C 7: 119,133,566 (GRCm39) S244P probably damaging Het
Actr6 A G 10: 89,550,808 (GRCm39) F329L probably benign Het
Actrt3 A G 3: 30,652,588 (GRCm39) S169P probably benign Het
Agtpbp1 C A 13: 59,647,886 (GRCm39) G645C probably damaging Het
AI661453 C T 17: 47,779,480 (GRCm39) R1069* probably null Het
Akr1c6 T C 13: 4,504,524 (GRCm39) I303T probably benign Het
Arnt A G 3: 95,397,965 (GRCm39) R588G probably damaging Het
Atf1 A G 15: 100,149,979 (GRCm39) probably null Het
Casp12 T C 9: 5,358,726 (GRCm39) V318A probably damaging Het
Cblb C T 16: 51,986,392 (GRCm39) P545L possibly damaging Het
Cc2d2a A T 5: 43,896,665 (GRCm39) I1521F probably benign Het
Ccn2 T C 10: 24,473,225 (GRCm39) C255R probably damaging Het
Ccnb1ip1 T A 14: 51,029,601 (GRCm39) K154* probably null Het
Cd300a A T 11: 114,784,198 (GRCm39) K69* probably null Het
Cdin1 A G 2: 115,500,568 (GRCm39) probably null Het
Clec10a A G 11: 70,060,851 (GRCm39) Y78C probably damaging Het
Cnot1 T C 8: 96,489,695 (GRCm39) I503V possibly damaging Het
Cpa2 A G 6: 30,554,292 (GRCm39) H304R probably damaging Het
Crb2 A T 2: 37,680,257 (GRCm39) H395L probably benign Het
Dnah8 T A 17: 31,038,113 (GRCm39) N4257K probably damaging Het
Dnase2a G A 8: 85,635,477 (GRCm39) D25N probably damaging Het
Drd1 T C 13: 54,207,186 (GRCm39) T343A probably benign Het
Emid1 G A 11: 5,082,012 (GRCm39) T161I probably benign Het
Epn2 A G 11: 61,425,402 (GRCm39) probably null Het
Esp36 A T 17: 38,728,055 (GRCm39) N75K possibly damaging Het
Faf1 A G 4: 109,792,746 (GRCm39) S573G possibly damaging Het
Fam149a T G 8: 45,806,920 (GRCm39) S231R probably damaging Het
Fam78a T C 2: 31,959,774 (GRCm39) E112G probably damaging Het
Fgf18 T C 11: 33,084,316 (GRCm39) D46G probably benign Het
Fggy G A 4: 95,585,313 (GRCm39) probably null Het
Foxb1 T C 9: 69,666,859 (GRCm39) M224V probably benign Het
Gpr75 T C 11: 30,841,808 (GRCm39) C238R possibly damaging Het
Gsdmc3 A G 15: 63,730,122 (GRCm39) *481R probably null Het
H2az2 C A 11: 6,383,750 (GRCm39) A57S probably damaging Het
Hsd17b11 T C 5: 104,140,748 (GRCm39) I250V probably benign Het
Hus1 C A 11: 8,946,856 (GRCm39) L280F probably benign Het
Ido1 T C 8: 25,074,533 (GRCm39) D279G probably benign Het
Inpp5b T C 4: 124,674,214 (GRCm39) V307A probably benign Het
Ipo5 G A 14: 121,172,498 (GRCm39) V519I probably damaging Het
Krba1 T C 6: 48,383,891 (GRCm39) V239A probably benign Het
Lmod3 A G 6: 97,224,125 (GRCm39) probably null Het
Macf1 T C 4: 123,393,682 (GRCm39) D836G probably damaging Het
Malt1 G T 18: 65,609,351 (GRCm39) C774F probably damaging Het
Map2k4 C A 11: 65,600,758 (GRCm39) D58Y probably damaging Het
Mc2r T C 18: 68,540,411 (GRCm39) N294S probably benign Het
Mybpc1 A G 10: 88,389,116 (GRCm39) probably null Het
Mybpc3 A G 2: 90,956,609 (GRCm39) E637G possibly damaging Het
Narf A G 11: 121,135,469 (GRCm39) Q107R probably damaging Het
Nlrp3 G A 11: 59,440,064 (GRCm39) G547D probably benign Het
Nucb2 G T 7: 116,123,540 (GRCm39) G51* probably null Het
Or10al5 T A 17: 38,063,315 (GRCm39) V190D possibly damaging Het
Otog C A 7: 45,913,526 (GRCm39) D786E probably benign Het
Otogl T C 10: 107,712,716 (GRCm39) T543A probably damaging Het
Pgap6 T C 17: 26,339,513 (GRCm39) F584L probably damaging Het
Phf20l1 A G 15: 66,476,704 (GRCm39) N266S probably benign Het
Pink1 G T 4: 138,042,866 (GRCm39) S446* probably null Het
Pkp4 T G 2: 59,135,794 (GRCm39) H186Q probably damaging Het
Prl3b1 T C 13: 27,433,460 (GRCm39) V205A probably damaging Het
Prss32 T C 17: 24,078,157 (GRCm39) V281A probably damaging Het
Psd3 C T 8: 68,573,821 (GRCm39) C120Y probably damaging Het
Ptcra A G 17: 47,069,574 (GRCm39) L99P probably damaging Het
Rab3gap2 C T 1: 184,995,026 (GRCm39) T855I probably benign Het
Rabgap1l T C 1: 160,066,111 (GRCm39) E199G probably damaging Het
Rbm44 T A 1: 91,083,216 (GRCm39) C580S probably damaging Het
Resf1 C G 6: 149,230,887 (GRCm39) S1311C probably damaging Het
Rhoq T C 17: 87,302,493 (GRCm39) V143A probably benign Het
Sacs T A 14: 61,451,246 (GRCm39) Y4431N probably benign Het
Sec24b A T 3: 129,796,028 (GRCm39) S367T probably benign Het
Sema4c G A 1: 36,589,266 (GRCm39) S620F probably benign Het
Slc12a1 G A 2: 125,070,670 (GRCm39) G1054E probably damaging Het
Slc16a3 A G 11: 120,848,794 (GRCm39) R417G probably benign Het
Slc22a29 A T 19: 8,195,722 (GRCm39) S106T probably benign Het
Slc41a2 T C 10: 83,149,284 (GRCm39) T220A probably damaging Het
Tap1 T C 17: 34,412,468 (GRCm39) F474L possibly damaging Het
Tas2r106 G T 6: 131,655,422 (GRCm39) A143D probably benign Het
Tbx6 A T 7: 126,383,707 (GRCm39) probably null Het
Tfap2a T A 13: 40,870,706 (GRCm39) N402I probably damaging Het
Tle3 T A 9: 61,281,275 (GRCm39) V22E probably damaging Het
Trip4 T C 9: 65,765,639 (GRCm39) I353M probably damaging Het
Ubr2 C A 17: 47,270,385 (GRCm39) probably null Het
Ugdh A G 5: 65,580,791 (GRCm39) probably null Het
Uhrf1 T C 17: 56,622,478 (GRCm39) V431A probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Zfp820 T C 17: 22,038,200 (GRCm39) K376R probably benign 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
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
R6286:Ide UTSW 19 37,255,409 (GRCm39) missense unknown
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'- GACCTTTGCAAAACTCTATCTTTGC -3'
(R):5'- GCGTTGTCATGCTAAGAATTTCAAC -3'

Sequencing Primer
(F):5'- TTTGCAAAACTCTATCTTTGCTAAAC -3'
(R):5'- TGCTAAGAATTTCAACCCACTTAC -3'
Posted On 2016-04-15